Hemangioma infantil. Reporte de un caso de presentacion clinica anular / Infantile hemangioma. Report of a case of annular clinical presentation

Reportamos el caso clínico de un lactante menor con una presentación anular de hemangioma, que nos plantea dudas en su clasificación. Se precisan los diagnósticos diferenciales y la necesidad de la determinación del marcador GLUT 1 en hospitales públicos.

We report the clinical case of a young infant with an annular presentation of hemangioma, which raises doubts regarding its classification. Differential diagnoses and the need to determine the GLUT 1 marker in public hospitals are specified.

Hemangioma infantil. Reporte de un caso de presentacion clinica anular

Reportamos el caso clínico de un lactante menor con una presentación anular de hemangioma, que nos plantea dudas en su clasificación. Se precisan los diagnósticos diferenciales y la necesidad de la determinación del marcador GLUT 1 en hospitales públicos.

We report the clinical case of a young infant with an annular presentation of hemangioma, which raises doubts regarding its classification. Differential diagnoses and the need to determine the GLUT 1 marker in public hospitals are specified.

Atenolol oral comparado con propranolol oral para hemangioma infantil / Oral atenolol compared to oral propranolol for infantile hemangioma

Introducción El hemangioma infantil corresponde al tumor vascular benigno más frecuente de la infancia, con una incidencia de 3 a 10%. Entre los pacientes que requieren tratamiento el uso oral de propranolol, un betabloqueador no selectivo de tipo lipofílico, es usualmente considerado como la terapia de elección. Sin embargo, su uso se ha asociado a diversos efectos adversos, relacionados con su acción ß-2, y a su capacidad de cruzar la barrera hematoencefálica. Debido a esto, el uso oral de atenolol, un betabloqueador selectivo de receptores ß-1, de tipo hidrofílico, podría representar una alternativa válida de tratamiento. Sin embargo, aún existe controversia en relación con la eficacia y seguridad del tratamiento con atenolol como monoterapia, en comparación con el uso de propranolol como monoterapia para esta condición. Métodos Se realizó una búsqueda en Epistemonikos, la mayor base de datos de revisiones sistemáticas en salud, la cual es mantenida mediante el tamizaje de múltiples fuentes de información, incluyendo MEDLINE/PubMed, EMBASE, Cochrane, entre otras. Se extrajeron los datos desde las revisiones identificadas, se analizaron los datos de los estudios primarios, se realizó un metanálisis y se preparó una tabla de resumen de los resultados utilizando el método , GRADE. Resultados Se identificaron nueve revisiones sistemáticas, que en conjunto incluyeron 10 estudios primarios y tres ensayos aleatorizados. Se incluyeron los tres ensayos aleatorizados en el análisis del presente trabajo. Conclusiones El uso de atenolol oral como monoterapia, comparado con el uso de propranolol oral como monoterapia, podría resultar en poca o nula diferencia en cuanto a la probabilidad de remisión completa, la disminución del , la probabilidad de recaída posterior al tratamiento y el riesgo de presentar efectos adversos y efectos adversos severos, en el hemangioma infantil (certeza de la evidencia baja).

Introduction Infantile hemangioma is the most frequent benign vascular tumor in childhood, with an incidence of 3 to 10%. When patients require treatment, oral propranolol, a non-selective lipophilic beta-blocker, is usually considered the therapy of choice. However, its use has been associated with several adverse events related to its ß-2 action and its ability to cross the blood-brain barrier. Because of this, oral atenolol, a hydrophilic ß-1 receptor-selective beta-blocker, may represent a valid treatment alternative. Nonetheless, there is still controversy regarding the efficacy and safety of atenolol when compared with propranolol as monotherapy for this condition. Methods We searched Epistemonikos, the largest database of systematic reviews in health science, which is maintained by screening multiple sources of information, including MEDLINE/PubMed, EMBASE, and Cochrane, among others. Data were extracted from the identified reviews, data from the primary studies were analyzed, a meta-analysis was performed, and a summary table of the results was prepared using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) method. Results Nine systematic reviews were identified, including 10 primary studies and three randomized trials. The three randomized trials were included in the analysis of this investigation. Conclusion The use of oral atenolol compared with oral propranolol as monotherapies may result in little or no difference in terms of likelihood of complete remission, decrease in Hemangioma Activity Score, likelihood of post-treatment relapse, and risk of adverse events and severe adverse events, in infantile hemangioma (low certainty of evidence).

Infantile (congenital) anaplastic intracranial solitary fibrous tumor/hemangiopericytoma—A case report with brief literature review

Solitary fibrous tumor/hemangiopericytoma (SFT/HPC) is a rare primary central nervous system (CNS) tumor, included in the World Health Organization (WHO) 2016 classification. Very few cases have been described in the literature so far, especially the infantile type. It is a mesenchymal tumor of the fibroblastic type, characterized by the fusion of NAB 2 and STAT 6 genes. A 10-month-old boy presented to our neurosurgery department with complaints of increasing head circumference since 1 month of age. The magnetic resonance imaging (MRI) showed a space-occupying lesion measuring 8.2 cm × 7 cm × 6.9 cm in the fronto-temporo-parietal region with a clinical diagnosis of glioma/atypical teratoid rhabdoid tumor (ATRT). The microscopy revealed a spindle cell tumor arranged in a patternless pattern with variable cellularity, increased mitosis, and areas of coagulative necrosis. The immunohistochemistry showed vimentin, CD 34, STAT6, CD99 positivity whereas Glial fibrillary acidic protein, Epithelial membrane antigen, and S-100 negativity. Hence, a diagnosis of anaplastic SFT/HPC (grade-III) was rendered. The patient improved after gross total resection (GTR). The primary intracranial congenital SFT/HPC are extremely rare, often a clinico-radiologically misdiagnosed entity. Thus, the immunohistochemistry/molecular study in addition to histology is mandatory for accurate diagnosis.

Brazilian experts' consensus on the treatment of infantile epileptic spasm syndrome in infants / Consenso de especialistas brasileiros sobre o tratamento da síndrome dos espasmos infantis em lactentes

Abstract Background Infantile epileptic spasms syndrome (IESS) is a rare but severe condition affecting children early and is usually secondary to an identifiable brain disorder. It is related to psychomotor deterioration in childhood and epilepsy in adult life. Treatment is challenging as infantile spasms may not respond to most antiseizure medication, and relapse is frequent. Objective To evaluate the literature regarding treatment of IESS and provide a practical guidance to a healthcare system with limited resources. Methods An expert committee from the Brazilian Society of Child Neurology reviewed and discussed relevant scientific evidence in the treatment of IESS regarding the drugs available in Brazil. Results Oral prednisolone and vigabatrin are the most common drugs used as first-line therapy; they are efficient and affordable therapy as both are available in the Brazilian unified health system (SUS, in the Portuguese acronym). Intramuscular adrenocorticotropic hormone (ACTH) presents similar efficacy as oral prednisolone but has a higher cost and is not available in Brazil. Other antiseizure medications such as topiramate, levetiracetam, or benzodiazepines have limited response and are prescribed as adjuvant therapy. If the health service has nutritionists, a ketogenic diet should be implemented for those not responding to hormonal and vigabatrin treatment. Epilepsy surgery is mainly indicated for patients with focal lesions that do not respond to pharmacological therapy. Conclusion Early treatment of IESS with efficient drugs is feasible in our country. Using standard protocols increases the odds of achieving complete cessation in a shorter time and decreases relapse.

Resumo Antecedentes A síndrome do espasmo epiléptico infantil (IESS) é uma condição rara, mas grave, que afeta crianças precocemente e geralmente é secundária a um distúrbio cerebral identificável, estando relacionada a deterioração psicomotora na infância e a epilepsia na vida adulta. O tratamento é desafiador, pois os espasmos infantis podem não responder à maioria dos medicamentos anticrises e as recidivas são frequentes. Objetivo Avaliar a literatura sobre o tratamento de IESS e fornecer uma orientação prática para um sistema de saúde com recursos limitados. Métodos Um comitê de especialistas da Sociedade Brasileira de Neurologia Infantil revisou e discutiu evidências científicas relevantes no tratamento da IESS em relação aos medicamentos disponíveis no Brasil. Resultados Prednisolona oral e vigabatrina são os fármacos mais comumente usados como terapia de primeira linha; são eficientes e acessíveis, já que ambos estão disponíveis no sistema único de saúde brasileiro (SUS). O ACTH intramuscular apresenta eficácia semelhante à prednisolona oral, mas tem custo mais elevado e não está disponível no Brasil. Outros medicamentos anticonvulsivos, como topiramato, levetiracetam ou benzodiazepínicos, têm resposta limitada e são prescritos como terapia adjuvante. Se o serviço de saúde tiver nutricionista, deve-se implementar dieta cetogênica para aqueles que não respondem ao tratamento hormonal e vigabatrina. A cirurgia de epilepsia é indicada principalmente para pacientes com lesões focais que não respondem à terapia farmacológica. Conclusão O tratamento precoce da IESS com fármacos eficazes é factível em nosso meio. O uso de protocolos padronizados aumenta as chances de alcançar a cessação completa em um tempo menor e diminui a recaída.

COVID-19 in Children with West Syndrome: An Ambispective Study

Objectives To study the course of West syndrome (WS) and coronavirus disease-19 (COVID-19) in children with WS who contracted SARS-CoV-2 infection. Methods This ambispective study was conducted at a tertiary-care center in North India between December 2020 and August 2021 after approval from the Institute Ethics Committee. Five children with WS, positive for COVID-19 based on RT-PCR, fulflled the inclusion criteria. Results One child with COVID-19 during the frst wave was retrospectively included while four children (of the 70 children screened) were prospectively enrolled. The median age at onset of epileptic spasms was 7 mo (2 boys), and that at presentation with COVID-19 was 18.5 mo. Three had underlying acquired structural etiology. Three were in remission following standard therapy, while two had ongoing spasms at the time of COVID-19 illness. During the illness, two of those in remission continued to be in remission while one child had a relapse. The children with ongoing epileptic spasms had variable course [one had persistent spasms and other had transient cessation lasting 3 wk from day 2 of COVID-19 illness, but electroencephalography (on day 8 of COVID-19 illness) continued to show hypsarrhythmia]. Fever was the most typical symptom (and sometimes the only symptom) of COVID-19, with a duration ranging from 1–8 d. Two children had moderate COVID-19 illness requiring hospitalization, while the rest had a mild illness. All the afected children had complete recovery from COVID-19. Conclusion The severity of COVID-19 illness in children with WS is often mild, while the subsequent course of WS is variable.

Occurrence and subsequent development of vertical deviations in patients treated surgically for infantile esotropia

Purpose: The purpose of this study was to evaluate the onset of dissociated vertical deviation (DVD) and inferior oblique overaction (IOOA), their subsequent development, and their correlation with pre and postoperative parameters. Methods: Medical records of patients with infantile esotropia who underwent surgery between 2005 and 2017 were retrospectively reviewed. DVD and IOOA were measured before and after surgery. Patients were divided into two groups based on horizontal and vertical deviation at the time of presentation: those with infantile esotropia only (group A) and patients with infantile esotropia who developed vertical deviation (group B). Results: Out of a total of 102 patients, DVD occurrence was seen in 53 patients (51.9%) and IOOA was seen in 50 patients (48.04%). DVD was seen in 22 patients at the time of initial examination and in 31 patients postoperatively. IOOA at presentation was seen in 45 patients (44.1%) and 5 patients (8.8%) postoperatively. No statistical difference was found in the age of surgery, angle of deviation, mean follow?up, and mean refractive error within both groups. The postoperative motor outcome was statistically comparable between the two groups (P = 0.29). Sensory outcomes of fusion (P = 0.048) and stereopsis (P?value = 0.00063) were better in group A. Conclusion: No correlation was found between the age of occurrence and development of vertical deviation with refractive error, angle of deviation, age, or type of surgery. We found that motor outcomes are not affected but sensory outcomes are affected in patients with vertical deviations. This indicates that DVD and IOOA are developed due to inherent disruption of fusion and stereopsis

Hemangioma segmentario de la barba / Segmental Beard Hemangioma

Los hemangiomas infantiles son el resultado de la proliferación de células del endotelio vascular y representan los tumores benignos más frecuentes en la infancia, con una incidencia estimada del 4-10% en bebés caucásicos. Se clasifican según el número, la profundidad y la distribución. Dentro de esta última clasificación se encuentran aquellos denominados segmentarios, que se caracterizan por su distribución extensa en áreas de prolongaciones mesodérmicas embrionarias. Se comunica el caso de una paciente evaluada al mes y medio de vida, con un hemangioma extenso del área mandibular y cuello anterior (hemangioma segmentario de la barba). Se describe la importancia de los estudios complementarios para evaluar el compromiso de órganos subyacentes, para detectar síndromes asociados y definir el tratamiento sobre la base de estos resultados. (AU)

Infantile hemangiomas arise from the proliferation of vascular endothelial cells and represent the most common benign tumors in infancy, with an estimated incidence of 4-10% in Caucasian infants. They vary according to their number, depth, and distribution. Within the latter classification are the so-called segmental ones, which feature an extensive distribution in areas of embryonic mesodermal extensions. We report the case of a patient evaluated at one and a half months of life with an extensive hemangioma of the mandibular area and anterior neck (segmental hemangioma of the beard). We describe the importance of complementary studies for evaluating the involvement of underlying organs, detecting associated syndromes, and defining the treatment based on these findings. (AU)

Abdominoscrotal hydrocele with ipsilateral hydroureteronephrosis in an adult: A case report

Abdominoscrotal hydrocele (ASH) is very rare in adults and difficult to suspect on clinical examination. ASH is a very unusual presentation of scrotal hydrocele with extension intra-abdominally through the inguinal canal either communicating to the peritoneal cavity or non-communicating. An ASH is a congenital pathology involving a scrotal hydrocele expanding through the inguinal canal and reaching the abdominal cavity. Here, we present the case of a 25-year-old man admitted with a complaint of pain and lump in the left lower abdomen for 2 months and swelling in the left groin for 2 years. Ultrasound and computed tomography suggest left ASH with left-sided hydroureteronephrosis. A left DJ stent was placed and on exploration, a large cystic mass was seen intraperitoneally extending into the scrotum through the inguinal canal. Excision of the abdominal part and partial excision of the scrotal part were done with eversion of the remaining tunica vaginalis sac. Although ASH is a rare entity, it should always be kept on the list of differential diagnoses during the complaint of large abdominal mass in adults.

Impacto del aislamiento social por COVID-19 en niños y niñas con trastornos del espectro autista y sus familias en la provincia de Misiones / Impact of social isolation by COVID-19 on children with autism spectrum disorders and their families in the province of Misiones

RESUMEN INTRODUCCIÓN El trastorno del espectro autista (TEA) se caracteriza por alteraciones en la comunicación y patrones restrictivos del comportamiento. El Aislamiento Social, Preventivo y Obligatorio (ASPO) en Argentina generó cambios en las dinámicas familiares de personas con TEA. El objetivo del estudio fue describir el impacto del ASPO en el acompañamiento de niños/as con TEA. MÉTODOS Se creó un instrumento específico de diseño mixto, con implementación de encuestas virtuales a familiares de personas con TEA. RESULTADOS Las 66 encuestas obtenidas revelaron ventajas, tales como la posibilidad de compartir tiempo en familia y conocer las necesidades de las/os hijas/os, el establecimiento de un ambiente con estímulos adecuados y ausencia de distractores, y la enseñanza con ritmos de aprendizaje y contenidos ajustados a las necesidades de niños/as con TEA. También se encontraron dificultades para la socialización: surgimiento de comportamientos no adaptativos (crisis, ansiedad, agresividad), barreras en la comunicación entre docentes y familias, imposibilidad de acceder a terapias y obstáculos para acceder a terapias virtuales. DISCUSIÓN El ASPO incidió en la vida cotidiana de las personas con TEA, de manera similar a lo observado en otras latitudes. A partir de lo experimentado durante el ASPO se proponen estrategias contextualizadas a la situación de pandemia actual y a potenciales escenarios similares.

ABSTRACT INTRODUCTION Autism spectrum disorder (ASD) is characterized by alterations in communication and restrictive behavior patterns. The Social, Preventive and Compulsory Isolation in Argentina changed family dynamics of people with ASD. The objective of this study was to describe the impact of isolation on accompanying children with ASD. METHODS A specific instrument of mixed design was created by conducting virtual surveys to relatives of ASD children. RESULTS The 66 surveys included in the study revealed advantages, such as the possibility of sharing family time and recognizing children's needs, environment with adequate stimuli and without distractors as well as teaching according to learning pace and content adjusted to ASD children. They also found difficulties in socialization: emergence of non-adaptive behaviors (crisis, anxiety, aggressiveness), communication barriers between teachers and families, therapy inaccessibility and obstacles to access to online therapies. DISCUSSION The isolation affected ASD people's daily life, similarly as in other countries. Based on the experiences during the isolation, strategies are proposed within the framework of the current pandemic situation and for potential similar scenarios.

Persistence of traumatic infantile hemiparesis in an adult - A rare case report

Hemiplegia is the physical manifestation of an injury to a specific area of the brain that controls motor function. Hemiplegia may develop suddenly, or evolve over days, weeks or months. Hemiparesis/ hemiplegia is rare in children. It causes significant mortality and morbidity. Infections are an important cause of neurological deficit, in the developing countries. Once the injury has occurred, the symptoms should not worsen. However, because of lack of mobility, other complications can occur. Complications may include muscle and joint stiffness, and shortening of limbs. The term acute infantile hemiplegia denotes certain cases of hemiplegia of sudden onset in children, of a few weeks to 6 or more years of age. The outcome may be fatal; or there may be permanent hemiplegia with mental impairment. There may be slow partial recovery; or rapid and complete recovery. We herewith present a 35 old male, who presented with seizures. 15 years ago he sustained head injury as he fell down from a tree. He was diagnosed with subdural hematoma and was evacuated through craniotomy, after which he developed residual right hemiparesis. The right hemiparesisis was still persisting as residual hemiparesis on right side with shortening of limbs. A diagnosis of Post traumatic Infantile hemiparesis on right side was made.

Síndrome de Aicardi: revisión bibliográfica

Introducción: el síndrome de Aicardi (SA; OMIM #304050) es un trastorno genético raro, cuya incidencia es de aproximadamente 1/100.000. Fue descrito en 1965 como una triada consistente en agenesia del cuerpo calloso, lagunas coriorretinianas y espasmos infantiles. Asocia discapacidad intelectual severa y epilepsia de difícil control. Aunque su espectro clínico es variable, tiene por lo general un pronóstico infausto debido a la elevada morbimortalidad asociada. Se considera un trastorno esporádico causado por variantes patogénicas en heterocigosis de un gen ligado al cromosoma X, que causa mortalidad embrionaria en varones hemicigotos. Objetivo: este trabajo pretende llevar a cabo una revisión bibliográfica acerca de la literatura científica disponible del síndrome de Aicardi. De esta manera se hará una actualización sobre esta entidad en cuanto a definiciones, prevalencia e incidencia, etiología, espectro clínico y pronóstico de los pacientes afectos. Materiales y métodos: se lleva a cabo una búsqueda bibliográfica retrospectiva en las principales bases de datos científicas. Para ello, se utilizan las palabras clave "Aicardi", "agenesia del cuerpo calloso", "espasmos infantiles" y "encefalopatía epiléptica". Conclusiones: desde su descripción se ha ido ampliando el espectro de manifestaciones clínicas del síndrome. Actualmente no se conoce la existencia de un biomarcador que posibilite el diagnóstico, por lo que éste continúa siendo eminentemente clínico. Se debe tener un alto nivel de sospecha en espasmos infantiles de debut precoz en mujeres con alteraciones en neuroimagen.

Introduction: Aicardi syndrome (AS; OMIM #304050) is a rare genetic disorder, with an incidence of approximately 1/100,000. It was described in 1965 as a triad consisting of agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. It is associated with severe intellectual disability and difficult-to-control epilepsy. Although its clinical spectrum is variable, it generally has a poor prognosis due to the associated morbidity and mortality. It is considered a sporadic disorder caused by heterozygous pathogenic variants of a gene linked to the X chromosome, which causes embryonic mortality in hemizygous males. Objective: this article performs a bibliographic review of the available scientific literature on Aicardi syndrome. In doing so, we hope to update the disorder's definitions, prevalence and incidence, etiology, clinical spectrum and prognosis of affected patients. Materials and methods: we performed a retrospective bibliographic search in the main scientific databases. For this, we searched for the keywords "Aicardi", "agenesia of the corpus callosum", "infantile spasms" and "epileptic encephalopathy". Conclusions: since it was first described, the spectrum of clinical manifestations of the syndrome has been expanding. Currently, there is no known biomarker that makes diagnosis possible, so it continues to be eminently clinical diagnosis. A high level of suspicion should be present in cases of early-onset infantile spasms in women with neuroimaging abnormalities.

Ultrasound techniques for the detection of developmental dysplasia of the hip: a systematic review and meta-analysis

ABSTRACT BACKGROUND: Developmental dysplasia of the hip (DDH) encompasses a broad spectrum of hip pathologies, including femoral or acetabular dysplasia, hip instability, or both. According to the medical literature, ultrasonography is the most reliable diagnostic method for DDH. Several techniques for the assessment of hips in newborns and infants, using ultrasonography, have been described. OBJECTIVE: To compare the accuracy of the Graf technique and other diagnostic techniques for DDH. DESIGN AND SETTING: A systematic review of studies that analyzed ultrasound techniques for the diagnosis of DDH within an evidence-based health program of a federal university in São Paulo (SP), Brazil. METHODS: A systematic search of relevant literature was conducted in the PubMed, EMBASE, Cochrane Library, CINAHL, and LILACS databases for articles published up to May 5, 2020, relating to studies evaluating the diagnostic accuracy of different ultrasound techniques for diagnosing DDH. The QUADAS 2 tool was used for methodological quality evaluation. RESULTS: All hips were analyzed using the Graf method as a reference standard. The Morin technique had the highest rate of sensitivity, at 81.12-89.47%. The Suzuki and Stress tests showed 100% specificity. The Harcke technique showed a sensibility of 18.21% and specificity of 99.32%. CONCLUSION: All the techniques demonstrated at least one rate (sensibility and specificity) lower than 90.00% when compared to the Graf method. The Morin technique, as evaluated in this systematic review, is recommended after the Graf method because it has the highest sensitivity, especially with the three-pattern classification of 89.47%. REGISTRATION NUMBER: Identifier: CRD42020189686 at the International Prospective Register of Systematic Reviews (identifier: CRD42020189686).

Anatomical and surgical considerations and outcomes in infantile Terson syndrome

Purpose: To study the presentation and outcomes of infantile Terson syndrome (TS). Methods: This was a retrospective analysis of 18 eyes of nine infants diagnosed to have TS?related intraocular hemorrhage (IOH). Results: Nine infants (seven males) were diagnosed to have IOH secondary to TS, of which eight infants had imaging features suggestive of intracranial bleed meeting our definite criteria. Median age at presentation was 5 months. In 11 eyes of six infants with suspected birth trauma, the median age of presentation was 4.5 months (range 1–5 months) of which one baby had a history of suction cup?aided delivery and four babies had a history of seizures. Vitreous hemorrhage (VH) was noted in 15 eyes (extensive in 11 eyes). Ten of these eyes showed membranous vitreous echoes, or triangular hyperechoic space with apex at the optic nerve head (ONH) posteriorly and base at the posterior lens capsule anteriorly, with or without dot echoes in the rest of the vitreous cavity, with a configuration of “tornado?like hemorrhage” suggestive of Cloquet’s canal hemorrhage (CCH). Eight eyes underwent lens?sparing vitrectomy (LSV) and one eye underwent lensectomy with vitrectomy (LV). On follow?up, disc pallor and retinal atrophy were noted in 11 and 10 eyes, respectively. The mean follow?up was 62 months (1.5 month–16 years). Visual acuity/behavior improved in all cases at the final follow?up. Developmental delay was noted in four children. Conclusion: Unexplained and altered vitreous hemorrhage with typical ultrasonography (USG) features should raise the suspicion of CCH in TS. Despite early intervention to clear visual axis, anatomical and visual behavior may remain subnormal.

Advances in the treatment of infantile hemangiomas of the larynx / 临床耳鼻咽喉头颈外科杂志

Infantile hemangiomas are relatively common soft tissue tumors in infants and young children, with a prevalence of about 4.5% in full-term newborns. Subglottic Hemangioma （SGH） is a relatively rare type of hemangioma, and its special location often causes respiratory distress and potentially life-threatening conditions in infants. Therefore, it is necessary for clinicians to make an accurate diagnosis and formulate a detailed treatment plan based on the clinical manifestations, the auxiliary examinations, the medical history and the vital signs evaluation of patients.This review describes the pathophysiological mechanism of infantile hemangioma and provides a detailed discussion on commonly used treatment methods in detail.

Factors influencing the efficacy of initial adrenocorticotropic hormone therapy for infantile epileptic spasms syndrome / 中国当代儿科杂志

OBJECTIVES@#To study the factors influencing the short-term (28 days) efficacy of initial adrenocorticotropic hormone (ACTH) therapy for infantile epileptic spasms syndrome (IESS), as well as the factors influencing recurrence and prognosis.@*METHODS@#The clinical data were collected from the children with IESS who received ACTH therapy for the first time in the Department of Pediatric Neurology, Xiangya Hospital of Central South University, from April 2008 to January 2018 and were followed up for ≥2 years. The multivariate logistic regression analysis was used to evaluate the factors influencing the short-term efficacy of ACTH therapy, recurrence, and long-term prognosis.@*RESULTS@#ACTH therapy achieved a control rate of seizures of 55.5% (111/200) on day 28 of treatment. Of the 111 children, 75 (67.6%) had no recurrence of seizures within 12 months of follow-up. The possibility of seizure control on day 28 of ACTH therapy in the children without focal seizures was 2.463 times that in those with focal seizures (P<0.05). The possibility of seizure control on day 28 of ACTH therapy in the children without hypsarrhythmia on electroencephalography on day 14 of ACTH therapy was 2.415 times that in those with hypsarrhythmia (P<0.05). The possibility of recurrence within 12 months after treatment was increased by 11.8% for every 1-month increase in the course of the disease (P<0.05). The possibility of moderate or severe developmental retardation or death in the children without seizure control after 28 days of ACTH therapy was 8.314 times that in those with seizure control (P<0.05). The possibility of moderate or severe developmental retardation or death in the children with structural etiology was 14.448 times that in those with unknown etiology (P<0.05).@*CONCLUSIONS@#Presence or absence of focal seizures and whether hypsarrhythmia disappears after 14 days of treatment can be used as predictors for the short-term efficacy of ACTH therapy, while the course of disease before treatment can be used as the predictor for recurrence after seizure control by ACTH therapy. The prognosis of IESS children is associated with etiology, and early control of seizures after ACTH therapy can improve long-term prognosis.

Effect of acupuncture combined with infantile tuina on intestinal flora in children with tic disorders / 中国针灸

OBJECTIVE@#To observe the effect of acupuncture combined with infantile tuina on intestinal flora and its efficacy in children with tic disorders (TD), and to explore its mechanism.@*METHODS@#A total of 15 children with TD were recruited as an observation group and 10 healthy children as a healthy control group. Regulating spleen and stomach acupuncture combined with infantile tuina were received in the observation group. First, acupuncture was applied to Zhongwan (CV 12), Tianshu (ST 25), Guanyuan (CV 4), Hegu (LI 4), Zusanli (ST 36), etc., and then abdominal massage and other tuina techniques were applied, once a day, 6 times a week, 2 weeks as a course of treatment, a total of 2 courses of treatment were required. No intervention was given in the healthy control group. In the observation group, Yale global tic severity scale (YGTSS) score and TCM syndrome score were compared before treatment and after 1 and 2 courses of treatment. 16S rRNA sequencing technology was used to detect the intestinal flora in the healthy control group and before and after treatment in the observation group.@*RESULTS@#After 1 and 2 courses of treatment, the scores of YGTSS and TCM syndrome in the observation group were lower than those before treatment (P<0.01, P<0.05). Compared with the healthy control group, the number of operational taxonomic units (OTU) and indexes of Chao1, Sobs, Ace and Shannon were decreased in the observation group before treatment (P<0.05, P<0.01). Compared with before treatment, the number of OTU and indexes of Chao1, Sobs, Ace and Shannon were increased in the observation group after treatment (P<0.01, P<0.05). Compared with the healthy control group, the relative abundance of Firmicutes in the observation group before treatment was decreased (P<0.001), while the relative abundance of Bacteroidetes, Bacteroides and Erysipelatoclostridium was increased (P<0.001, P<0.05). Compared with before treatment, the relative abundance of Bacteroidetes in the observation group was decreased (P<0.001) after treatment, while the relative abundance of Actinobacteria, Bifidobacterium and Atopobium was increased (P<0.05, P<0.01).@*CONCLUSION@#Acupuncture combined with infantile tuina based on the principle of regulating spleen and stomach could effectively improve TD symptoms in children, which may be related to regulating the diversity of intestinal flora, increasing beneficial bacteria, maintaining intestinal microecological balance, and playing a role in improving neurological disorders.

Therapeutic efficacy evaluation of Tuina at points on abdomen and back meridians for infantile colic / 针灸推拿医学（英文版）

Objective: To evaluate the efficacy of Tuina (Chinese therapeutic massage) at points on abdomen and back meridians in the treatment of infantile colic.Methods: A total of 120 infants with intestinal colic were randomly divided into a control group and an observation group, with 60 cases in each group. In the control group, the parents of the infants were given soothing and health education. In addition to the intervention used in the control group, the observation group was treated with Tuina at points on abdomen and back meridians once a day for 5 consecutive days as a course of treatment. The pain scale score and clinical symptoms of the two groups were recorded before and after treatment. Results: After treatment, the total effective rate of the observation group was higher than that of the control group, and the difference was statistically significant (P<0.05). The pain scale score of the observation group was lower than that of the control group, and the difference was statistically significant (P<0.05). In the 24 h behavior diary indicators, the daily attack duration, the daily attack times, and the weekly attack days in the observation group were lower than those in the control group, and the differences were statistically significant (P<0.05). Conclusion: Tuina at points on abdomen and back meridians is effective and safe in the treatment of infantile colic.

Congenital glycosylation disorder type Ⅱm caused by SLC35A2 mutations: a report of 3 cases and literature review / 中华神经科杂志

Objective:To summarize the clinical manifestations, gene variations, diagnosis and treatment of 3 cases with SLC35A2 variations characterized by congenital glycosylation disorder Ⅱm (CDG Ⅱm). Methods:A total of 3 patients admitted to the Department of Pediatrics of Xiangya Hospital of Central South University in China from 2018 to 2020 were examined in detail. The studies till January 2022 were searched with key words of "congenital disorders of glycosylation Ⅱm", " SLC35A2" and "CDG Ⅱm" in both English and Chinese in the databases of China National Knowledge Infrast Ructure (CNKI), Wanfang, Online Mendelian Inheritance in Man and PubMed, and the clinical manifestations, genetic variation, treatments and prognosis of patients with SLC35A2 mutation were summarized. Results:The patients all presented with intractable infantile spasm and global developmental delay, onset in infancy. A variety of antiepileptic treatments had temporary and partial efficacy. Otherwise, proband 2 and 3 presented with abnormal glutamic-pyruvic transaminase and increased platelets. Funduscopy showed dysplasia of the retinal pigment epithelium in both eyes, and they both received D-galactose treatment. A total of 22 relevant case reports, including 99 patients, were collected. The 99 patients all were heterozygous mutations, and a total of 75 different variation sites were reported. The clinical manifestations were characterized by global developmental delay or mental retardation ( n=89), epileptic seizure ( n=75), hypotonia ( n=57), facial deformity ( n=57), skeletal abnormality ( n=50), visual impairment ( n=42), elevated glutamic-pyruvic transaminase ( n=31), gastrointestinal symptoms ( n=28), skin deformity ( n=26), microcephaly ( n=23) and congenital heart disease ( n=12). Craniocerebral magnetic resonance imaging may be normal in the early stage. With age, magnetic resonance imaging may show abnormal white matter signals, brain atrophy, dysplasia of corpus callosum, delayed myelination, enlargement of lateral ventricle, brain stem atrophy and so on. Studies have shown that galactose treatment may be effective. Conclusions:SLC35A2 variants lead to CDG Ⅱm, whose clinical manifestations mainly include epileptic encephalopathy and global developmental delay. Multiple antiepileptic therapies can temporarily or partially control seizures, while oral galactose may improve the clinical symptoms, showing its prospect as a dietary therapy.

Vigabatrin-associated brain abnormalities on magnetic resonance imaging in the treatment of infantile spasms: a case report / 中华神经科杂志

Vigabatrin-associated brain abnormalities on magnetic resonance imaging (VABAM) is a relatively rare side effect of vigabatrin, most of which are asymptomatic. However, there will be extremely rare cases with hyperkinetic disorders, myoclonus, tremor, and acute encephalopathy under certain circumstances. VABAM is often underappreciated by physicians and its accurate incidence remains unclear. A female infant who was diagnosed with infantile spasms and required adrenocorticotropic hormone therapy accompanied by various antiseizure medicines was reported. Unfortunately, she became lethargic and her spasm deteriorated gradually after vigabatrin exposure. Her brain magnetic resonance imaging revealed abnormal signals bilaterally in the dorsal midbrain, thalamus, and rostral part of the pallidum. She had a seizure amelioration and became lively as a result of vigabatrin withdrawal. In the meanwhile, magnetic resonance imaging returned to normal. Attempts were made to discover the risk factors of VABAM and potential pathogenesis. Further understanding of the disease should contribute to decreasing misdiagnosis and making precise decisions.