Congenital malformations of the posterior fossa: a review of clinical and radiological features through an Illustrated guide / Malformações congênitas da fossa posterior: uma revisão das características clínicas e radiológicas por meio de um guia ilustrado

Congenital malformations of the posterior fossa (PF) encompass a wide spectrum of morphological anomalies that arise during embryonic development. This paper provides a narrative review of these most common disorders from a morphological approach based on the division into cystic (Dandy-Walker malformation, Blake's Pouch cyst, mega cisterna magna, arachnoid cyst, and cerebellar vermis hypoplasia) and non-cystic malformations (Joubert syndrome, rhomboencephalosynapsis, and pontocerebellar hypoplasia). The embryogenesis of PF structures is briefly outlined. While magnetic resonance imaging is the preferred modality for evaluation, computerized tomography and ultrasonography serve complementary roles. In conjunction with clinical aspects, specific radiological features, such as cerebellar vermis morphology, Torcular Herophili position, and the presence/absence of mass effect, are highlighted for accurate diagnosis. We also present some typical radiological findings in non-cystic malformations, such as molar tooth sign, diamondshaped fourth ventricle, and dragonfly-shaped cerebellum. This comprehensive review aims to assist radiologists, neuropediatricians, and general neurologists in recognizing and describing PF malformations, thereby facilitating appropriate management strategies.

As malformações congênitas da fossa posterior (FP) abrangem um amplo espectro de anomalias morfológicas que surgem durante o desenvolvimento embrionário. Este artigo fornece uma revisão narrativa desses distúrbios mais comuns a partir de uma abordagem morfológica baseada na divisão em malformações císticas (malformação de Dandy-Walker, cisto da bolsa de Blake, mega cisterna magna, cisto aracnoide e hipoplasia do vermis cerebelar) e não císticas (syndrome de Joubert, rombencefalossinapse e hipoplasia pontocerebelar). A embriogênese das estruturas da FP é brevemente descrita. Embora a ressonância magnética seja a modalidade preferida para avaliação, a tomografia computadorizada e a ultrassonografia desempenham funções complementares. Em conjunto com os aspectos clínicos, características radiológicas específicas, como a morfologia do vermis cerebelar, a posição da torcula Herophili e a presença/ausência de efeito de massa, são destacadas para um diagnóstico preciso. Apresentamos também alguns achados radiológicos típicos de malformações não císticas, como sinal do dente molar, quarto ventrículo em forma de diamante e cerebelo em forma de libélula. Esta revisão abrangente visa auxiliar radiologistas, neuropediatras e neurologistas gerais no reconhecimento e na descrição das malformações da FP, facilitando, assim, estratégias de manejo adequadas.

Eventos adversos em crianças submetidas a cirurgias orofaciais / Adverse events in children submitted to orofacial surgery / Eventos adversos en niños sometidos a cirugía orofacial

Objetivo: Identificar os eventos adversos no pós-operatório imediato de queiloplastia e/ou palatoplastia em crianças e comparar os eventos identificados aos notificados ao Núcleo de Segurança do Paciente. Métodos: Estudo descritivo, retrospectivo e quantitativo, realizado em um hospital público e terciário brasileiro. Os dados foram coletados por meio da descrição nos registros de enfermagem e comparados aos notificados ao Núcleo de Segurança do Paciente, referente a junho e dezembro de 2019. Os resultados foram submetidos a análise estatística descritiva. Resultados: A amostra constou de 203 crianças, das quais 51% (n=103) apresentaram evento adverso. Foram identificados 176 eventos adversos, de 8 tipos, com prevalência da laringite pós-extubação (n=50; 28%), edema de língua (n=34; 19%) e lesão de comissura labial (n=25; 14%). Destes, apenas 5% (n=9) foram notificados ao Núcleo de Segurança do Paciente. Conclusão: Os eventos adversos prevalentes se relacionaram a cavidade oral e tecidos adjacentes, e a subnotificação foi expressiva. (AU)

Objective: To identify adverse events in the immediate postoperative period of cheiloplasty and/or palatoplasty in children and compare the identified events to those notified to the Patient Safety Center. Methods: Descriptive, retrospective and quantitative study, carried out in a Brazilian public and tertiary hospital. Data were collected through descriptions in nursing records and compared to those notified to the Patient Safety Center, referring to June and December 2019. The results were subjected to descriptive statistical analysis. Results: The sample consisted of 203 children, of which 51% (n=103) had an adverse event. A total of 176 adverse events of 8 types were identified, with prevalence of post-extubation laryngitis (n=50; 28%), tongue edema (n=34; 19%) and labral commissure lesion (n=25; 14%). Of these, only 5% (n=9) were notified to the Patient Safety Center. Conclusion: The prevalent adverse events were related to the oral cavity and adjacent tissues, and underreporting was significant. (AU)

Objetivo: Identificar eventos adversos en el postoperatorio inmediato de queiloplastia y/o palatoplastia en niños y comparar los eventos identificados con los notificados al Centro de Seguridad del Paciente. Métodos: Estudio descriptivo, retrospectivo y cuantitativo, realizado en un hospital público y terciario brasileño. Los datos se recolectaron mediante descripciones en registros de enfermería y se compararon con los notificados al Centro de Seguridad del Paciente, referidos a junio y diciembre de 2019. Los resultados fueron sometidos a análisis estadístico descriptivo. Resultados: La muestra estuvo conformada por 203 niños, de los cuales el 51% (n = 103) tuvo un evento adverso. Se identificaron un total de 176 eventos adversos de 8 tipos, con prevalencia de laringitis posextubación (n=50; 28%), edema de lengua (n=34; 19%) y lesión de la comisura del labrum (n=25; 14%). De estos, solo el 5% (n=9) fueron notificados al Centro de Seguridad del Paciente. Conclusion: Los eventos adversos prevalentes se relacionaron con la cavidad bucal y los tejidos adyacentes y el subregistro fue significativo. (AU)

Duplicación del colédoco asociado a unión biliopancreática anómala: Reporte de caso / Common bile duct duplication associated with anomalous biliopancreatic junction: A case report

Introducción. La duplicación del colédoco es una anomalía congénita poco frecuente. En la mayoría de los casos este defecto se asocia a cálculos en la vía biliar, unión pancreatobiliar anómala, pancreatitis, cáncer gástrico o colangiocarcinoma. Por esta razón, el diagnóstico y el tratamiento temprano son importantes para evitar las complicaciones descritas a futuro. Métodos. Se presenta el caso de una paciente de 30 años, con antecedente de pancreatitis aguda, con cuadro de dolor abdominal crónico, a quien se le realizaron varios estudios imagenológicos sin claro diagnóstico. Fue llevada a manejo quirúrgico en donde se documentó duplicación del colédoco tipo II con unión pancreatobiliar anómala. Resultados. Se hizo reconstrucción de las vías biliares y hepatico-yeyunostomía, con adecuada evolución postoperatoria y reporte final de patología sin evidencia de tumor. Conclusión. El diagnóstico se hace mediante ecografía endoscópica biliopancreática, colangiorresonancia o colangiopancreatografía retrógrada endoscópica. El tratamiento depende de si está asociado o no a la presencia de unión biliopancreática anómala o cáncer. Si el paciente no presenta patología neoplásica, el tratamiento quirúrgico recomendado es la resección del conducto con reconstrucción de las vías biliares.

Introduction. Double common bile duct is an extremely rare congenital anomaly. This anomaly may be associated with bile duct stones, anomalous biliopancreatic junction, pancreatitis, bile duct cancer, or gastric cancers. Thus, early diagnosis and treatment is important to avoid complications. Clinical case. We report a rare case of double common bile duct associated with an anomalous biliopancreatic junction in a 30-year-old female, with prior history of acute pancreatitis, who presented with chronic abdominal pain. She underwent several imaging studies, without clear diagnosis. She was taken to surgical management where duplication of the type II common bile duct was documented with anomalous pancreatobiliary junction. Results. Reconstruction of the bile ducts and hepatico-jejunostomy were performed, with adequate postoperative evolution and final pathology report without evidence of tumor. Conclusion. Diagnosis is usually performed by an endoscopic ultrasound, magnetic resonance cholangiopancrea-tography, or endoscopic retrograde cholangiopancreatography. Treatment depends on the presence of anomalus biliopancreatic junction or concomitant cancer. In cases without associated malignancy, resection of bile duct and biliary reconstruction is the recommended surgical treatment.

Imaging manifestation of crossed ectopic fused kidney / 中国医学影像技术

Objective To explore imaging manifestations of crossed ectopic fused kidney.Methods Data of 12 patients with crossed ectopic fused kidney were retrospectively analyzed,and the imaging manifestations of crossed ectopic fused kidney were observed.Results L type crossed ectopic fused kidney was detected in 5 cases,while inferior ectopic type(Ii type),S-shaped type and lump type(O type)ectopic fused kidney was found each in 2 cases,respectively,and doughnut or disc type(C-C type)ectopic fused kidney was noticed in 1 case.The ectopic fused kidney presented with empty one side renal cavity,while the morphology and position of the contralateral kidney were generally normal in all 12 cases,which crossed the midline and fused with the contralateral in situ kidney,including right to left crossed ectopic fusion in 8 cases and left to right crossed ectopic fusion in 4 cases.The ureters of the crossing kidney went across the midline,opened into the bladder trigone on the contralateral side in 11 cases or prostate in 1 case.Combined reproductive system abnormalities were found in 3 cases,including unicornous uterus,bicornuate uterus and cryptorchidism each in 1 case.Two cases were found complicated with abnormal inferior vena cava,including 1 case of both side inferior vena cava and 1 case of left inferior vena cava.Conclusion The imaging manifestations of crossed ectopic fused kidney had characteristics.Complete displaying of reveal fused kidney,ureteral course and opening was helpful to accurate diagnosis and classification of crossed ectopic fused kidney.

Clinical and genetic analysis of children with developmental and epileptic encephalopathy 18 caused by SZT2 gene variants / 中华神经科杂志

Objective:To investigate the clinical phenotype and genetic characteristics of developmental epileptic encephalopathy 18 (DEE18) caused by SZT2 gene variants. Methods:Clinical data of 2 children with SZT2 related DEE18 who visited the Department of Pediatric Neurology, Linyi People′s Hospital in March 2020 and July 2023 were collected. The whole exome sequencing (WES) and Sanger sequencing were applied to verify the child and their parents. SWISS-MODEL software was used to perform protein 3D modeling for the selected SZT2 gene variants. Results:Both of the 2 cases showed severe global developmental delay, epileptic seizures, autism, megacephaly, facial deformity, hypotonia, corpus callosum malformation, persistent cavum septum pellucidum, and slow background activity and focal discharge in video electroencephalography. Case 1 was easy to startle and thin in stature; case 2 had immune deficiency and clustered seizures. WES results showed that case 1 carried a compound heterozygous variant of c.5811G>A (p.W1937X) (paternal) and c.9269delG (p.S3090Ifs *94) (maternal), while case 2 carried a compound heterozygous variant of c.6302A>C(p.H2101P) (paternal) and c.7584dupA (p.E2529Rfs *20) (maternal), the parents of both patients with normal clinical phenotypes. The 4 mutations mentioned above were novel variations that had not yet been reported domestically or internationally. According to the American College of Medical Genetics and Genomics variant classification criteria and guidelines, the p.S3090Ifs *94 variant was interpreted as pathogenic; p.W1937X variant was interpreted as pathogenic; p.E2529Rfs *20 variant was interpreted as likely pathogenic; p.H2101P variant was interpreted as uncertain significance. 3D modeling showed that the variant of p.H2101P resulted in a significant change in the hydrogen bond around the 2 101st amino acid encoded, leading to a decrease in protein stability. The other 3 variants led to early truncation of peptide chain and obvious changes in protein structure. Conclusions:DEE18 caused by SZT2 gene mutation is mainly an autosome recessive genetic disease, and its clinical manifestations include global developmental delay, epileptic seizures, autism, craniofacial malformation, hypotonia, epileptic discharge, corpus callosum malformation, persistent cavum septum pellucidum, shock, small and thin stature, and immune deficiency. Four novel variants related to the SZT2 gene may be the genetic etiology of DEE18 patients in this study.

Clinicopathological features and prognosis of fetal prune belly syndrome: analysis of five cases / 中华围产医学杂志

Objective:To investigate the clinicopathological features and prognosis of fetal prune belly syndrome (PBS).Methods:This retrospective study collected and analyzed the clinical data of five fetuses with PBS diagnosed through a pathological autopsy in Women and Children's Hospital, School of Medicine, Xiamen University, from December 2016 to January 2023. The clinicopathological features of these cases were summarized, and the subsequent pregnancy outcomes in their mothers were followed up. A descriptive statistical method was used for data analysis.Results:(1) Megabladder or enlarged bladder was observed in the five fetuses (four males and one female) with a maximum diameter of 4.4 cm (1.6-8.9 cm). Two fetuses were complicated by renal dysplasia, one by an absence of kidney, and ureters, one by bilateral ureterectasia and possible posterior urethral atresia, and one by the dilated cerebral ventricle, gastroschisis, exposed viscera, and scoliosis. The pregnancies were terminated at the gestational age of 15 +6 weeks (12 +5-19 +4 weeks). (2) The five fetuses exhibited distended and thin abdominal walls with excessive dilation of the bladder. There were two cases with the partially absent abdominal wall, one with diaphragmatic dysplasia, two with renal dysplasia complicated by pyeloureterectasis, two with urethratresia and anal atresia, one with hydroderma and sever seroperitoneum, and one with absent left kidney and left ureter. The muscle layers of the bladder wall, abdominal wall, and ureter tube wall were of varying thickness, and the arrangement of muscle fibers was disordered with incomplete or absent muscle layers in some areas. Moreover, the glomeruli and renal tubules were reduced to varying degrees and fibrous interstitial hyperplasia was observed. Immunohistochemical staining revealed thin muscle layers and broken muscle layers in some regions. (3) One fetus carried a compound heterozygous variant of c.907G>A/c.461C>T in the DHCR7 gene, which was found to be a pathogenic variation. The other four cases had no obvious abnormalities. (4) By August 2023, apart from one case lost to follow-up, the other four were followed up for 68 months (7-80 months). Three women were successfully conceived again after an interval of 16, 24, and 19 months, respectively, and the other one did not conceive due to being in a recovery period. Three neonates were delivered at term in good condition, and no obvious abnormality in growth or development was reported during a three-year follow-up. Conclusions:Fetal PBS is a rare congenital malformation characterized by dysplasia of the abdominal wall and the bladder smooth muscle layers. The subsequent pregnancy is generally not affected.

Epidemiologic profile and prevalence of live births with orofacial cleft in Brazil: a descriptive study / Perfil epidemiológico e prevalência de nascidos vivos com fissura orofacial no Brasil: um estudo descritivo

ABSTRACT Objective: To describe the epidemiological profile and prevalence of live births with orofacial clefts in Brazil between 1999 and 2020. Methods: Descriptive study. The population corresponded to live births with isolated orofacial clefts in Brazil registered in the Live Birth Information System between 1999 and 2020. Descriptive variables were selected according to their availability and grouped into socioeconomic and demographic, maternal and child health care, and biological variables. Data were submitted to a descriptive analysis using the Software for Statistics and Data Science (STATA). Results: During the period, 33,699 children were born with orofacial clefts, and 82.1% (27,677) of them were isolated clefts. Regarding these cases, the majority were cleft lip and palate (9,619 or 34.7%), followed by cleft palate (9,442 or 34.1%), and by cleft lip (8,616 or 31.3%). Conclusions: Live births with orofacial clefts in Brazil were male, white, with birthweight ≥2,500 g and gestational age ≥37 weeks, born by cesarean section, and with Apgar scores ≥7. The cases were more frequent among mothers who were in their first and single pregnancy and had seven or more prenatal appointments. The mothers were 20 and 29 years old, had eight to ten years of study, and were single. The national prevalence of clefts was 4.24/10,000. The South and Southeast regions of Brazil had the highest prevalence, while the lowest prevalence was recorded in the Northeast and North regions. For the Federative Units, the highest and lowest prevalences were found, respectively, in Paraná and Acre.

RESUMO Objetivo: Descrever o perfil epidemiológico e a prevalência dos nascidos vivos com fissuras orofaciais no Brasil entre 1999 e 2020. Métodos: Estudo descritivo. A população correspondeu aos nascidos vivos com fissuras orofaciais isoladas no Brasil registrados no Sistema de Informação de Nascidos Vivos entre 1999 e 2020. As variáveis descritivas foram selecionadas de acordo com a sua disponibilidade e agrupadas em variáveis socioeconômicas e demográficas, de atenção à saúde materno-infantil e biológicas. Os dados foram submetidos a análise descritiva utilizando o Software for Statistics and Data Science (STATA). Resultados: No período, 33.699 indivíduos nasceram com fissura orofacial no Brasil, e 82,1% (27.677) deles foram fissuras isoladas. Com relação a esses casos, a maioria foi de fissuras de lábio e palato (9.619 ou 34,7%), seguidas por fissura de palato (9.442 ou 34,1%) e por fissura de lábio (8.616 ou 31,1%). Conclusões: O perfil epidemiológico dos nascidos vivos com fissuras orofaciais no Brasil foi de nascidos do sexo masculino, da raça/cor branca, por parto cesáreo, com peso ao nascer ≥2,500 g, idade gestacional ≥37 semanas e com índices de Apgar ≥7. Os casos foram mais frequentes entre mães que estavam na primeira gestação, única e que haviam realizado sete ou mais consultas de pré-natal. As mães, com maior frequência, tinham entre 20 e 29 anos, apresentavam oito ou mais anos de estudo, eram solteiras e residiam em cidades do interior. A prevalência nacional de fissuras foi de 4,24/10.000. As Regiões Sul e Sudeste apresentaram as maiores prevalências, enquanto as menores foram registradas nas Regiões Nordeste e Norte. Para as Unidades Federativas, as maiores e menores prevalências foram encontradas, respectivamente, no Paraná e no Acre.

Etiology and perinatal outcomes between early and late-onset nonimmune hydrops fetalis

SUMMARY OBJECTIVE: We aimed to compare the etiology and perinatal outcomes of non-immune hydrops fetalis diagnosed early- and late-onset at our hospital. METHODS: The records of the patients who applied to our department were reviewed, and we reached 42 non-immune hydrops fetalis cases retrospectively and examined the medical records. Hydrops diagnosis week, birth week, accompanying anomalies, and perinatal outcomes were compared as ≤12 weeks (early-onset) and >12 weeks (late-onset). RESULTS: The prevalence of non-immune hydrops fetalis was 0.05%, and the median week of diagnosis for hydrops was 18 weeks. Consanguinity (16.7%) was found in seven pregnancies, and the other seven patients (16.7%) had a history of hydrops in previous pregnancies. Anomalies of the skeletal system, central nervous system, and gastrointestinal tract accounted for 66.7% of ≤12 weeks in non-immune hydrops fetalis cases. Cardiac abnormalities were more common (26.7%) in patients at > 12 weeks (p=0.078). A statistically significant difference was found between the distribution of week of birth and week of diagnosis (p=0.029). Notably, 66.7% of patients diagnosed before week 12 and 23.3% of patients diagnosed after week 12 delivered their babies before week 24. Spontaneous intrauterine death occurred before week 12 in 45.5% (n=5) of non-immune hydrops fetalis and after week 12 in 39.1% (n=9) of non-immune hydrops fetalis. Notably, 69.2% (n=9) of the patients who had prenatal invasive testing resulted in normal karyotype. CONCLUSION: In this study, most of the fetuses diagnosed with early-onset non-immune hydrops fetalis were born in the first 24 weeks. Additionally, live birth rates and cardiac anomalies were observed to be higher in late-onset non-immune hydrops fetalis.

Dacriocistocele bilateral congénito: reporte de un caso / Congenital bilateral dacryocystocele: case report

Introducción: el dacriocistocele es una malformación congénita rara, secundaria a la obstrucción del conducto nasolagrimal; tiene una incidencia de 0,1 % de pacientes con obstrucción congénita del conducto nasolagrimal y se encuentra bilateralmente hasta en 25 % de casos. Caso clínico: lactante femenina de dos meses con celulitis periorbitaria derecha preseptal no asociada con lesión de entrada y diagnóstico inicial de dacriocistitis derecha. Al examen físico de ingreso, en el ojo derecho se evidencia gran masa abscedada en saco lagrimal; en el ojo izquierdo, un área indurada y leve reflujo a la presión del saco lagrimal. Se realiza tomografía computarizada de órbitas con hallazgos compatibles con dacriocistocele bilateral. Discusión y conclusiones: conocer la presentación y posibles complicaciones asociadas con esta patología previene una morbilidad importante al paciente. La mayoría de los casos de dacriocistocele se pueden manejar médicamente, sin embargo, aquellos asociados con complicaciones requieren de manejo quirúrgico oportuno.

Introduction: Dacryocystocele is a rare congenital malformation secondary to na-solacrimal duct obstruction. It has an incidence of 0.1% of patients with congenital nasolacrimal duct obstruction, being found bilaterally in up to 25% of cases. Case Report: Two-month-old female infant with preseptal right periorbital cellulitis not associated with an entrance lesion, with an initial diagnosis of right dacryocystitis. On physical examination, a large abscessed mass in the lacrimal sac was eviden-ced in the right eye; in the left eye, there was an indurated area and slight reflux to the lacrimal sac pressure. Computed tomography of the orbits was performed with findings compatible with bilateral dacryocystocele. Discussion and conclusions: Knowing the presentation and possible complications associated with this pathology prevents significant patient morbidity. Most cases of dacryocystocele can be mana-ged medically, however, cases associated with complications require timely surgical management.

Prevalence of Congenital Anomalies of the Upper Limbs in Brazil: a descriptive cross-sectional study

ABSTRACT BACKGROUND: Congenital Anomalies of the Upper Limb (CAUL) are a group of structural or functional abnormalities that develop during intrauterine life and can lead to limb dysfunction. OBJECTIVES: To analyze the prevalence of congenital anomalies of the upper limbs in Brazil and assess maternal and neonatal variables. DESIGN AND SETTING: A cross-sectional, descriptive study was conducted on congenital upper limb malformations among live births across Brazil. METHODS: The study spanned from 2010 to 2019. Data were sourced from the Department of Informatics of the Unified Health System (DATASUS) and the Live Birth Information System (SINASC) portal. Analyses focused on the information reported in field 41 of the Live Birth Declaration Form entered into the computerized system. RESULTS: The most common anomaly in Brazil was supernumerary fingers, classified as ICD-Q69.0, affecting 11,708 children, with a prevalence of 4.02 per 10,000 live births. Mothers aged over 40 years had a 36% higher prevalence of having children with CAUL than mothers under 40 years old (OR = 1.36; 95% CI 1.19-1.56). Newborns weighing ≥ 2,499 g were 2.64 times more likely to have CAUL compared to those weighing ≥ 2,500 g (OR = 2.64; 95% CI 2.55-2.73). CONCLUSION: There was an observed increase in the reporting of CAUL cases over the decade studied. This trend serves as an alert for health agencies, as understanding the prevalence of CAUL and its associated factors is crucial for preventive medicine.

Anquilobléfaro filiforme congênito / Ankyloblepharon filiforme adnatum

RESUMO O anquiloblefáro filiforme congênito é uma rara anomalia congênita, caracterizada por uma fusão palpebral, parcial ou completa, cuja incidência é de 4,4 por 100 mil recém-nascidos. Normalmente, o anquiloblefáro filiforme congênito constitui uma malformação solitária, de ocorrência esporádica, no entanto, pode estar associado a outras malformações. O pediatra possui papel imprescindível para observar as alterações clínicas do recém-nascido e dar orientação para o tratamento adequado. O objetivo deste estudo foi relatar o caso de recém-nascido de termo que teve diagnóstico precoce de anquiloblefáro filiforme congênito associado a outras malformações congênitas, tendo desfeito as aderências em procedimento cirúrgico oportuno, evitando-se a evolução para futuras complicações visuais do paciente.

ABSTRACT Ankyloblepharon filiforme adnatum is a rare congenital anomaly, characterized by partial or complete palpebral fusion, with an incidence of 4.4 per 100,000 newborns. Normally, ankyloblepharon filiforme adnatum constitutes a solitary malformation, with sporadic occurrence, however, it can be associated with other malformations. Pediatricians play an essential role in observing clinical changes in newborns and providing guidance on appropriate treatment. The this study aims to report the case of a full-term newborn who had an early diagnosis of ankyloblepharon filiforme adnatum associated with other congenital malformations.

Intestinal Nonrotation, Imaging Findings in the Malrotation Spectrum: Case Report

Intestinal nonrotation is a rare embryonic developmental anomaly with a reported incidence of up to 0.5% in autopsies. Given the asymptomatic course, the diagnosis may be late, so it becomes an incidental finding. This study presents the most common imaging characteristics to familiarize readers with this pathology. We describe the case of a 73-year-old patient who consulted for pain in the right inguinal region associated with the sensation of a mass. There were no significant findings on physical examination. An abdominal tomography with contrast was requested as a study method, identifying a reversal of the superior mesenteric artery/superior mesenteric vein relationship with the cecum, appendix, and ileocecal valve in the left flank and mesogastrium. A displacement of thin intestinal loops towards the right hemiabdomen was also noted.

La no rotación intestinal es una anomalía del desarrollo embrionario poco frecuente con una incidencia reportada de hasta el 0,5 % en autopsias. El diagnóstico puede ser tardío dado el curso asintomático, por lo que se convierte en un hallazgo incidental. El objetivo de este estudio es dar a conocer las características por imagen más comunes para familiarizar a los lectores con esta patología. Se presenta el caso de un paciente de 73 años que consultó por dolor en la región inguinal derecha asociado a sensación de masa. En el examen físico no hubo hallazgos significativos. Se solicitó una tomografía abdominal con contraste como método de estudio y se identificó una inversión de la relación entre la arteria y vena mesentérica superior con la presencia de ciego, apéndice y válvula ileocecal en el flanco izquierdo y mesogastrio. Adicionalmente, se observó un desplazamiento de asas intestinales delgadas hacia el hemiabdomen derecho.

Malformación completa del sistema nervioso central y otras malformaciones asociadas. A propósito de un caso / Complete malformation of the central nervous system and other associated malformations. A case report

La anencefalia es una anomalía gestacional que produce la ausencia de gran parte del cerebro y del cráneo; aunque se desconoce el motivo principal de su aparición, puede estar relacionado con toxinas ambientales, y pobre ingesta de ácido fólico durante el embarazo. Los fetos que padecen de esta malformación, en su mayoría, no llegan a nacer vivos o mueren a las pocas horas. Se presentó una paciente recibida en emergencia en el Centro de Atención Integral Materno Infantil, municipio Ixchiguan, departamento de San Marcos, Guatemala con embarazo a término, según refirió la paciente, sin atención prenatal, dolor en hipogastrio y pérdida de líquido amniótico de un día de evolución. Siendo este un defecto genético multifactorial, para el cual no existe tratamiento, el único recurso para su prevención fue brindar una atención prenatal pormenorizada con énfasis especial en el programa de genética para la detección precoz de anomalías congénitas.

Anencephaly is a gestational anomaly that produces the absence of a large part of the brain and skull; although the main reason for its appearance is unknown, it may be related to environmental toxins and poor intake of folic acid during pregnancy. Most of the fetuses that suffer from this malformation are not born alive or die within a few hours. We present a female patient who was received in the emergency service of the Comprehensive Maternal and Child Care Center in Ixchiguan municipality, San Marcos department, Guatemala, with a full-term pregnancy, as reported by the patient, without prenatal care, hypogastric pain and loss of amniotic fluid of one day of evolution. Since there is no treatment for this multifactorial genetic defect, the only resource for its prevention was to provide detailed prenatal care with special emphasis on the genetics program for the early detection of congenital anomalies.

Epidemiología del diagnóstico prenatal de defectos congénitos en la provincia de Holguín / Epidemiology of prenatal diagnosis of congenital defects in Holguín province

Introducción: En Cuba, los defectos congénitos constituyen la segunda causa de muerte en niños menores de un año, por lo cual ocupan un lugar prioritario en los programas médicos sociales del país. Objetivo: Evaluar el comportamiento epidemiológico del diagnóstico prenatal de los defectos congénitos en Holguín, Cuba. Métodos: Se realizó un estudio descriptivo y transversal de la epidemiología de los defectos congénitos en la provincia de Holguín, Cuba, en el periodo de enero 2011- junio de 2020. Resultados: Los años con mayor número de defectos congénitos diagnosticados fueron: 2011, 2012, 2017 y 2018 con 308, 253, 290 y 236 pacientes, respectivamente. Los defectos congénitos más frecuentes fueron: cardiovasculares (comunicación interventricular, canal auriculoventricular, transposición de grandes vasos e hipoplasia de cavidades), renales (pielocaliectasia, hidronefrosis, riñones poliquísticos), y del sistema nervioso central (ventriculomegalia, hidrocefalia). El grupo de edad materna donde se realizó mayor número de diagnósticos fue entre 20-24 años, la mayoría en el segundo trimestre de la gestación; en el primer trimestre, el mayor número de defectos congénitos correspondió a los defectos de pared anterior. La tasa de mortalidad infantil por defectos congénitos se mantuvo estable en la mayoría de los años estudiados. Conclusiones: La estabilidad y perfeccionamiento del programa de diagnóstico prenatal de los defectos congénitos, y el asesoramiento genético adecuado, han tenido un resultado epidemiológico favorable en la provincia.

Introduction: congenital defects in Cuba are the second cause of death in children under one year of age that is why they occupy a priority place in the social medical programs of the country. Objective: to evaluate the epidemiological manifestation of the prenatal diagnosis of congenital defects in Holguín, Cuba. Methods: a descriptive and cross-sectional study of the epidemiology of birth defects was carried out in Holguín province, Cuba from January 2011 to June 2020. Results: the years with the highest number of diagnosed birth defects were 2011, 2012, 2017 and 2018 with 308, 253, 290 and 236 patients, respectively. The most frequent birth defects were cardiovascular (ventricular septal defect, atrioventricular canal, transposition of the great vessels and hypoplasia of cavities), renal (pyelokaliectasia, hydronephrosis and polycystic kidneys), and central nervous system (ventriculomegaly and hydrocephalus). The maternal age group in which the highest number of diagnoses was made was between 20-24 years, mostly in the second trimester of pregnancy; the largest number of congenital defects in the first trimester corresponded to anterior wall defects. The infant mortality rate due to congenital defects remained stable in most of the years studied. Conclusions: the stability and improvement of the prenatal diagnosis program for congenital defects, as well as an adequate genetic counseling, have had a favourable epidemiological result in the province.

Muerte perinatal por atresia laríngea: reporte de caso

Resumen La atresia laríngea es una malformación congénita de la vía aérea, que se presenta por la falta de recanalización de la luz laríngea durante la embriogénesis. Se requiere de la detección de hallazgos ecográficos característicos durante la gestación para considerar este diagnóstico. En este artículo, se presenta el caso de una gestación de 39,2 semanas con pobres controles prenatales y única ecografía gestacional tardía que no reportaba anomalías. Al nacimiento, el feto estaba no vigoroso e hipotónico, con insuficiente esfuerzo respiratorio, cianosis bucal y puntajes de Apgar 4-4-0, por lo que realizaron maniobras de reanimación con gran dificultad para lograr ventilación y múltiples intentos de intubación endotraqueal fallidos, aunque el personal médico indicó que a pesar de identificar las cuerdas vocales les fue imposible el paso del tubo. Finalmente, el neonato fallece. Ante la sospecha de malformación en la vía respiratoria superior, solicitan al servicio de patología realizar autopsia clínica para confirmar causa de la muerte.

Abstract Laryngeal atresia is a congenital malformation of the airway, which occurs due to the lack of recanalization of the laryngeal lumen during embryogenesis. The detection of characteristic sonographic features during pregnancy is required to consider this diagnosis. In this article we present the case of a 39.2-week gestation with poor prenatal controls and a single late gestational ultrasound that did not report abnormalities. At birth, the fetus was non-vigorous and hypotonic, with poor respiratory effort, oral cyanosis and Apgar scores of 4-4-0, for which it underwent resuscitation maneuvers with great difficulty in achieving ventilation and multiple failed endotracheal intubation attempts, although the medical staff indicates that despite identifying the vocal cords, it was impossible for them to pass the tube. Finally the newborn dies. Suspecting a malformation in the upper respiratory tract, request the pathology service to perform a clinical autopsy to confirm the cause of death.

Ten years of pediatric surgery in a secondary level perinatal hospital in Mexico / Diez años de cirugía pediátrica en un hospital perinatal de segundo nivel en México

Abstract Background: Neonatal surgery is one of the most specialized and demanding areas of pediatric surgery due to the specific anatomical and physiological characteristics of this vulnerable group of patients. This study aimed to present the experience of 10 years of neonatal surgical management in a secondary care perinatal hospital in Mexico. Methods: We conducted a descriptive, observational, cross-sectional, and retrospective study in a perinatal hospital in Toluca, Mexico, from August 01, 2012, to July 31, 2022. We included patients who underwent surgery within the hospital facilities by the Service of Pediatric Surgery. We studied demographic, clinical, and surgical variables and performed descriptive and inferential statistics. Results: A total of 551 patients underwent surgery during this period with a prevalence of 0.5%. The number of patients operated in the neonatal period was 497 (90.1%). Forty-eight pathologies were recorded, with a predominance of congenital malformations in 64.6% and prenatal diagnosis in 40.5% of cases. The survival rate was 89.7%. In the bivariate analysis of mortality, we found an inverse relationship between weight and gestational age (p < 0.05). Conclusion: Although not a local or national reference center, the hospital where the study was conducted treats various congenital and acquired diseases, with a mortality rate that tends to decrease, close to the international average, and lower than national reports.

Resumen Introducción: La cirugía pediátrica en la atención del recién nacido es una de las ramas más especializadas y demandantes debido a las particulares características anatómicas y fisiológicas de este vulnerable grupo de pacientes. El objetivo de este estudio fue presentar la experiencia de diez años de manejo quirúrgico neonatal en un hospital perinatal de segundo nivel de atención en México. Métodos: Se llevó a cabo un estudio descriptivo, observacional, transversal y retrospectivo, en un hospital perinatal de Toluca, México, del 01 de agosto de 2012 al 31 de julio de 2022. Se incluyeron los pacientes sometidos a cirugía dentro de las instalaciones del hospital por parte del servicio de Cirugía Pediátrica. Se estudiaron variables demográficas, clínicas y quirúrgicas, realizando estadística descriptiva e inferencial. Resultados: Un total de 551 pacientes fueron intervenidos quirúrgicamente en este periodo, con una prevalencia de 0.5%. La cantidad de pacientes operados en el periodo neonatal fue de 497 (90.1%). Se presentaron 48 patologías con predominio de las congénitas en el 64.6% y diagnóstico prenatal en el 40.5% de los casos. La supervivencia de los pacientes fue del 89.7%. En el análisis bivariado de mortalidad se encontró una relación inversa con el peso y edad gestacional (p < 0.05). Conclusiones: En el hospital donde se realizó el estudio, a pesar de no ser un centro de referencia local o nacional, se atiende una amplia diversidad de padecimientos congénitos y adquiridos, con una mortalidad con tendencia a disminuir cercana a la media internacional y menor que los reportes nacionales.

La ingesta accidental Quiste de duplicación duodenal en un paciente pediátrico. Reporte de caso

Introducción. Los quistes de duplicación duodenal son malformaciones raras, que ocurren durante el desarrollo embriológico del tracto gastrointestinal. Caso clínico. Se presenta el caso de un niño de tres años, con cuadro clínico de dolor abdominal, náuseas y vómitos. La ecografía y la tomografía computarizada informaron una imagen quística entre el hígado, riñón derecho y colon. Resultados. Se realizó laparoscopia encontrando un quiste de duplicación duodenal con moco en la primera porción del duodeno. Se practicó una resección del quiste y mucosectomía del segmento restante. Conclusión. Los síntomas de un quiste de duplicación duodenal son inespecíficos y su hallazgo frecuentemente es incidental. El tratamiento quirúrgico depende del tamaño, la ubicación y su relación con la vía biliar.

Introduction. Duodenal duplication cysts are rare malformations that occur during the embryological development of the gastrointestinal tract. Clinical case. The case of a three-year-old boy with abdominal pain, nausea, and vomiting is presented. Ultrasound and computed tomography revealed a cyst between the liver, right kidney, and colon. Results. Laparoscopy was performed, finding a duodenal duplication cyst with mucus in the first portion of the duodenum. A resection of the cyst and mucosectomy of the remaining segment were performed. Conclusion. The symptoms of a duodenal duplication cyst are nonspecific and its finding is frequently incidental. Surgical treatment depends on the size, location, and relationship to the bile duct.

Malformações fetais: distribuição temporal e sua associação com o uso de agrotóxicos no Rio Grande do Sul / Fetal malformations: temporal distribution and its association with the use of pesticides in Rio Grande do Sul

RESUMO O objetivo do presente estudo é investigar a distribuição temporal das taxas de malformações congênitas no estado do Rio Grande do Sul e sua associação com o uso de agrotóxicos. A pesquisa é de abordagem quantitativa, do tipo descritivo exploratória, realizada durante o primeiro semestre de 2022. O estudo foi conduzido através da associação da ocorrência de malformações com o uso de agrotóxicos, que foi calculada por meio dos Odds Ratios, sendo o Intervalo de Confiança (IC) adotado para as amostras de 95%. Houve variação nas taxas de malformações congênitas ao longo dos cinco períodos analisados. Os resultados indicam que há probabilidade da ocorrência de malformações no estado do Rio Grande do Sul estar associada ao uso de agrotóxicos. Todos os valores de variações percentuais anuais foram significativos e a presença de valores positivos indica tendência de aumento anual da incidência de malformações congênitas no Rio Grande do Sul. É evidente ainda que há variabilidade no número de casos notificados para todas as malformações incluídas no estudo ao longo do período analisado. Ressalta-se a importância de prevenção da exposição aos agrotóxicos, visto que o uso extensivo e inadequado desses está associado a efeitos deletérios na saúde humana.

ABSTRACT The aim of this study is to examine the temporal distribution of congenital malformation rates in Rio Grande do Sul and its potential correlation with pesticide use. This quantitative research adopts an exploratory descriptive approach and was conducted in the first half of 2022. The association between malformation occurrences and pesticide use was determined using Odds Ratios, with a 95% Confidence Interval (CI) applied to the sample. The study reveals variations in congenital malformation rates across the five analyzed periods. The findings suggest a likely association between malformation occurrences in Rio Grande do Sul and pesticide use. Notably, all annual percentage variation values were statistically significant, with positive values indicating an annual increase in congenital malformation incidences in the region. Moreover, the study highlights the presence of variability in the reported cases of all malformations examined throughout the analyzed period. This research underscores the importance of preventing exposure to pesticides, as their widespread and inappropriate usage is linked to detrimental effects on human health. Safeguarding against such exposure becomes crucial in mitigating the risks associated with congenital malformations.

IgA deficiente / IgA deficiency

El déficit selectivo de IgA se define como la ausencia parcial o total de IgA en el suero, con cifras normales en el resto de las inmunoglobulinas. Se presentó una paciente femenina de 1 año y 7 meses, de padres no consanguíneos, con antecedentes familiares negativos para enfermedades genéticas o defectos congénitos, e IgA deficiente. Los estudios inmunológicos mostraron un gran déficit de IgA, de ahí que el diagnóstico se definió como una inmunodeficiencia congénita, por déficit selectiva de IgA o inmunodeficiencia variable común (trastorno genético producto de una herencia monogénica); para lo cual se le realiza una cuantificación de la subclase de IgG y así determinar si es una mutación en un mismo gen defectuoso. La paciente evolucionó satisfactoriamente con los tratamientos recibidos; los valores de IgA permanecieron nulos, no siendo así con el resto de las inmunoglobulinas.

Selective IgA deficiency is defined as the partial or total absence of IgA in the serum, but normal levels in the rest of the immunoglobulins. We present a female patient aged 1 year and 7 months, of non-consanguineous parents, who had a negative family pathological history for genetic diseases or congenital defects and IgA deficiency. Immunological studies showed a high IgA deficiency, hence the diagnosis was defined as congenital immunodeficiency due to selective IgA deficiency or common variable immunodeficiency (genetic disorder resulting from monogenic inheritance); a quantification of the IgG subclass was also performed in order to determine if it was a mutation in the same defective gene. The patient evolved satisfactorily with the treatments received; the IgA values remained null, but this was not the case with the rest of the immunoglobulins.

Factores de riesgo asociados a anomalías congénitas renales y de vías urinarias / Risk factors associated with congenital renal and urinary tract anomalies

Introducción: Las anomalías congénitas renales y de las vías urinarias constituyen la principal causa de enfermedad renal crónica en la edad pediátrica. Su etiología es multifactorial. Intervienen factores maternos, genéticos y ambientales. En Cuba, las afecciones congénitas del riñón y las vías urinarias constituyen una latente preocupación y aunque se ha incrementado el diagnóstico prenatal de las mismas, el número de pacientes diagnosticados es alto. Objetivo: Contribuir al conocimiento de la comunidad científica en relación con los factores de riesgo asociados a las anomalías del desarrollo renal. Métodos: Se realizó una revisión sistemática de la literatura médica disponible en las bases de datos Ebsco, SciELO, Scopus, Pubmed, revistas de nefrología pediátrica, pediatría, genética y teratología; y en la red social académica: Researchgate. Se accedió, durante los últimos cinco años, a varios artículos publicados en español y en inglés. Se utilizaron los descriptores Congenital anomalies of the kidney and urinary tract, hydronephrosis, risk factors, prenatal diagnosis, congenital abnormalities. Conclusiones: La presencia de la diabetes, desde la etapa preconcepcional y durante las primeras semanas del embarazo, la obesidad, las dietas maternas bajas en proteínas, y las alteraciones de la fertilidad, se asocian a las anomalías del desarrollo renal. Existen factores de riesgo específicos para determinados tipos de defectos congénitos renales y de las vías urinarias. No se considera, que el consumo del ácido fólico tenga un papel protector sobre las alteraciones de la embriogénesis renal, por lo que se recomienda ser cauteloso con la dosis que se administra a las embarazadas.

Introduction: congenital renal and urinary tract anomalies are the main cause of chronic kidney disease in children. Its etiology is multifactorial. Maternal, genetic and environmental factors are involved. In Cuba, congenital renal and urinary tract affections constitute a latent concern, and although their prenatal diagnoses have increased, the number of diagnosed patients is high. Objective: to contribute to the knowledge of the scientific community in relation to the risk factors associated with renal developmental anomalies. Methods: a systematic review of the available medical literature was carried out in Ebsco, SciELO, Scopus and Pubmed databases, in pediatric nephrology, pediatrics, genetics, and teratology journals as well as in the academic social network: Researchgate. Several articles published in Spanish and English languages were accessed during the last five years. The used descriptors were congenital anomalies of the kidney and urinary tract, hydronephrosis, risk factors, prenatal diagnosis and congenital abnormalities. Conclusions: the presence of diabetes, from the preconceptional stage and during the first weeks of pregnancy, obesity, maternal diets low in protein, and fertility disorders, are associated with renal developmental anomalies. There are specific risk factors for certain types of kidney and urinary tract birth defects. It is not considered that the consumption of folic acid has a protective role on the alterations of renal embryogenesis, so it is recommended to be cautious with the dose administered to pregnant women.