Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 40
Filter
1.
Arch. pediatr. Urug ; 93(2): e310, dic. 2022. ilus
Article in Spanish | LILACS, BNUY, UY-BNMED | ID: biblio-1383656

ABSTRACT

Introducción: el síndrome del incisivo central maxilar medio único (SMMCI) es un trastorno de etiología desconocida, con base genética heterogénea, que se caracteriza por la erupción de un único incisivo central en el maxilar y que se puede relacionar con multitud de patologías y síndromes, entre los que destacan las alteraciones de la línea media, obstrucción nasal congénita, disfunción hipofisaria, talla baja y holoprosencefalia. Caso clínico: neonato mujer con síndrome dismórfico no filiado y obstrucción nasal congénita, que es diagnosticada de SMMCI tras consultar en repetidas ocasiones por cuadros de dificultad respiratoria y problemas para alimentarse. Conclusiones: el conocimiento de este raro síndrome es fundamental para la realización de un diagnóstico precoz por parte del equipo pediátrico y obstétrico, ya que un diagnóstico temprano es posible, mejorando la evaluación prenatal ecográfica, así como el adecuado manejo posnatal multidisciplinar posterior de nuestros pacientes.


Introduction: the Solitary Median Maxillary Central Incisor Syndrome (SMMCI) is a disorder of unknown etiology, with a heterogeneous genetic basis, characterized by the eruption of a single central incisor in the maxilla and that can be linked to various pathologies and syndromes, among which the alterations of the midline, congenital nasal obstruction, pituitary dysfunction, short stature and holoprosencephaly stand out. Clinical case: female newborns with unknown dysmorphic syndrome and congenital nasal obstruction, diagnosed with SMMCI after repeated consultations due to respiratory distress and feeding problems. Conclusions: understanding this rare syndrome is essential for an early diagnosis to be carried out by the pediatric and obstetric team, since it will improve the ultrasound prenatal assessment, as well as the adequate subsequent multidisciplinary postnatal patient management procedures.


Introdução: a síndrome do incisivo central maxilar médio solitário (SICMMS) é uma desordem de etiologia desconhecida, com base genética heterogênea, caracterizada pela erupção de um único incisivo central na maxila e que pode estar relacionada a uma infinidade de patologias e síndromes. onde se destacam alterações da linha média, obstrução nasal congênita, disfunção hipofisária, baixa estatura e holoprosencefalia. Caso clínico: recém-nascida com síndrome dismórfica de origem desconhecida e obstrução nasal congênita, diagnosticada com SICMSS após várias consultas por desconforto respiratório e problemas de alimentação. Conclusões: o conhecimento desta rara síndrome é essencial para que a equipe pediátrica e obstétrica possa fazer um diagnóstico precoce, pois ele pode melhorar a avaliação ultrassonográfica pré-natal, bem como o adequado manejo pós-natal multidisciplinar pós-natal dos pacientes.


Subject(s)
Humans , Female , Infant, Newborn , Abnormalities, Multiple/diagnostic imaging , Nasal Obstruction/diagnostic imaging , Constriction, Pathologic/diagnostic imaging , Syndrome , Abnormalities, Multiple/pathology , Nasal Obstruction/surgery , Holoprosencephaly/diagnostic imaging , Incisor/abnormalities , Anodontia/complications
4.
Rev. bras. cir. cardiovasc ; 34(6): 765-768, Nov.-Dec. 2019. tab, graf
Article in English | LILACS | ID: biblio-1057488

ABSTRACT

Abstract Clinical data: Infant, 7 months, female, referred to our department at one month of age, suspecting of congenital heart disease for further investigation. Chest radiography: Demonstrates cardiomegaly and prominent pulmonary vascular markings. Electrocardiography: Shows right ventricular hypertrophy and left anterior fascicular block. Echocardiography: Evidenced common atrioventricular valve with two orifices and the left superior pulmonary vein draining on the brachiocephalic vein. Computed tomography angiography: This complementary imaging exam was performed to confirm the diagnosis. Diagnosis: The patient presented an association between AVSD and PAPVC, a rare combination. The clinical picture of heart failure was preponderant, characterized by need for diuretics and complementary exams findings, and early surgical treatment was indicated. Operation: The operation was performed through a median sternotomy with 123 minutes of cardiopulmonary bypass and 89 minutes of cross-clamping time. The patient had no postoperative complications, remaining 10 days hospitalized.


Subject(s)
Humans , Female , Infant , Abnormalities, Multiple/diagnostic imaging , Vascular Malformations/diagnostic imaging , Heart Defects, Congenital/diagnostic imaging , Heart Septal Defects, Atrial/diagnostic imaging , Pulmonary Veins/abnormalities , Pulmonary Veins/surgery , Abnormalities, Multiple/surgery , Cardiopulmonary Bypass , Electrocardiography , Vascular Malformations/surgery , Computed Tomography Angiography , Heart Defects, Congenital/surgery , Heart Septal Defects, Atrial/surgery
6.
Arch. argent. pediatr ; 116(1): 102-105, feb. 2018. ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-887438

ABSTRACT

El origen anómalo aislado de la arteria coronaria derecha desde la arteria pulmonar principal es una anomalía congénita rara y se han notificado pocos casos en la población pediátrica. En este artículo informamos el caso asintomático de un lactante varón de dos meses de edad al que se le diagnosticó origen anómalo de la arteria coronaria derecha desde la arteria pulmonar principal durante la evaluación realizada para detectar anomalías cardíacas. Debido a la sospecha durante una ecocardiografía, se realizaron un cateterismo cardíaco y una angiografía coronaria para verificar el diagnóstico del origen anómalo de la arteria coronaria derecha desde la arteria pulmonar principal. El paciente se sometió a la cirugía y estaba en buen estado en el seguimiento a los dos meses. El diagnóstico temprano podría evitar que los pacientes tengan complicaciones cardiovasculares.


Isolated anomalous origin of the right coronary artery from the main pulmonary artery is a rare congenital anomaly, and few cases have been reported in the pediatric age group. Here in, we report an asymptomatic case of a 2-month-old male infant who has been diagnosed as anomalous origin of the right coronary artery from the main pulmonary artery during the evaluation for cardiac abnormalities. For a suspicion on echocardiography, cardiac catheterization and coronary angiography performed to verify the diagnosis of anomalous origin of the right coronary artery from the main pulmonary artery. The patient underwent surgery and did well after two months follow up. Early diagnosis may prevent patients from cardiovascular complications.


Subject(s)
Humans , Male , Infant , Pulmonary Artery , Pulmonary Artery/abnormalities , Abnormalities, Multiple/diagnostic imaging , Coronary Vessel Anomalies/diagnostic imaging , Echocardiography , Incidental Findings
8.
Arch. cardiol. Méx ; 87(4): 345-348, oct.-dic. 2017. graf
Article in Spanish | LILACS | ID: biblio-887545

ABSTRACT

Resumen: El arco aórtico derecho puede estar asociado a subclavia izquierda aberrante, en algunos casos esta se origina de una dilatación aneurismática que se conoce como divertículo de Kommerell. Se presentan 2 casos de anillo vascular formado por un arco aórtico derecho, subclavia izquierda anómala con divertículo de Kommerell y persistencia del conducto arterioso izquierdo con una revisión de la literatura acerca del desarrollo embriológico y los métodos de imagen que ayudan al diagnóstico de esta rara anomalía vascular.


Abstract: The right-side aortic arch may be associated with aberrant left subclavian artery, in some cases this artery originates from an aneurismal dilation of the aorta called Kommerell's diverticulum. A report is presented on 2 cases of vascular ring formed by a right-side aortic arch, anomalous left subclavian artery, Kommerell's diverticulum and left patent ductus arteriosus. A review the literature was also performed as regards the embryological development and the imaging methods used to help in the diagnosis of this rare vascular anomaly.


Subject(s)
Humans , Aorta, Thoracic/abnormalities , Subclavian Artery/abnormalities , Abnormalities, Multiple/diagnostic imaging , Diverticulum/complications , Cardiovascular Abnormalities/complications , Aneurysm/complications , Aorta, Thoracic/diagnostic imaging , Subclavian Artery/diagnostic imaging , Cardiovascular Abnormalities/diagnostic imaging , Vascular Ring/etiology , Vascular Ring/diagnostic imaging , Aneurysm/diagnostic imaging
9.
Rev. bras. ginecol. obstet ; 38(12): 623-628, Dec. 2016. graf
Article in English | LILACS | ID: biblio-843885

ABSTRACT

ABSTRACT We describe a Herlyn-Werner-Wunderlich syndrome (HWWS) patient with previous history of infertility who got pregnant without treatment and presented a pyometra in the contralateral uterus throughout the gestational period, despite multiple antibiotic treatments. Due to the uterus' congenital anomaly and the possibility of ascending infection with subsequent abortion, this pregnancy was classified as high-risk. We believe that the partial horizontal septum in the vagina may have contributed to the closure of the gravid uterus cervix, thus ensuring that the pregnancy came to term, with an uneventful vaginal delivery.


RESUMO Os autores descrevem uma paciente com síndrome de Herlyn-Werner-Wunderlich (SHWW) e história prévia de infertilidade, que engravidou espontaneamente. Durante todo o período gestacional apresentou, apesar da instituição de antibioticoterapia, um piometra localizado ao útero não gravídico. Devido à anomalia congênita uterina e ao risco de infeção ascendente, com possível desfecho obstétrico desfavorável, esta gravidez foi classificada de alto risco. O septo vaginal horizontal e parcial poderá ter contribuído para ausência de disseminação da infecção, permitindo que a gravidez tenha chegado a termo, com um parto vaginal, sem intercorrências.


Subject(s)
Humans , Female , Pregnancy , Adult , Abnormalities, Multiple/diagnostic imaging , Kidney/abnormalities , Urogenital Abnormalities/diagnostic imaging , Uterus/abnormalities , Infertility, Female/etiology , Pyometra , Syndrome , Ultrasonography, Prenatal , Urogenital Abnormalities/complications , Uterus/diagnostic imaging , Vagina/abnormalities , Vagina/diagnostic imaging
10.
CoDAS ; 28(6): 823-827, nov.-dez. 2016. tab, graf
Article in Portuguese | LILACS | ID: biblio-828590

ABSTRACT

RESUMO A síndrome de Joubert (SJ) é uma condição genética heterogênea, rara, do grupo das ciliopatias. Mais de 20 genes foram identificados relacionados com este fenótipo. As principais manifestações incluem hipotonia, ataxia, atraso psicomotor, apraxia oculomotora e anormalidades respiratórias neonatais. O objetivo deste artigo foi apresentar achados de linguagem e neurodesenvolvimento de um indivíduo com diagnóstico da SJ. Foi realizada a anamnese, avaliação genética clínica, observação do comportamento comunicativo, avaliação da linguagem, o Teste de Screening de Desenvolvimento Denver-II (TSDD-II) e a Early Language Milestone Scale (ELMS). Os principais achados da Ressonância Magnética do encéfalo mostraram grave hipoplasia do vérmis cerebelar, “sinal do dente molar”, tronco cerebral hipoplásico, atrofia dos hemisférios cerebelares. A avaliação da linguagem mostrou ausência de oralidade, prejuízo na recepção da linguagem, confirmando o diagnóstico de transtorno de linguagem, com grau de comprometimento grave. O TSDD-II e a ELMS comprovaram a observação e avaliação clínica e indicaram atraso grave nos domínios motor, autocuidados e de linguagem receptiva e expressiva. Diante da presença de hipotonia, ataxia, atraso psicomotor e anormalidades respiratórias neonatais é imprescindível a realização de exame por imagem e avaliação genética para o diagnóstico desta condição, tão complexa, com necessidades terapêuticas peculiares. Este conjunto de achados, associado à história familial e características fenotípicas peculiares reforçam o diagnóstico genético clínico da SJ. Esta síndrome genética é pouco reconhecida e merece ser apresentada para o reconhecimento da comunidade científica, visando o diagnóstico correto e planejamento terapêutico que minimize os efeitos deletérios desta condição.


ABSTRACT The Joubert syndrome (JS) is a rare, heterogeneous genetic condition among the ciliopathies. More than 20 genes have been identified associated with this phenotype. The main manifestations include hypotonia, ataxia, psychomotor retardation, ocular-motor apraxia and neonatal respiratory abnormalities. The objective of this paper was to present language and neurodevelopmental findings of an individual diagnosed with JS. The following procedures were performed: anamnesis, clinical genetic evaluation observation of communicative behavior, evaluation of language, the Denver Developmental Screening Test II (DDST-II) and the Early Language Milestone Scale (ELMS). The main findings of the MRI brain showed severe hypoplasia of the cerebellar vermis, “molar tooth sign”, hypoplastic brain stem and atrophy of the cerebellar hemispheres. The observation and evaluation of the language showed no oral, impaired reception of language, confirming the diagnosis of language disorder with severe degree of impairment. The DDST-II and the ELMS confirmed the observation and clinical assessment and indicated serious delay in motor domains, self-care and receptive and expressive language. Given the presence of hypotonia, ataxia, delayed psychomotor and neonatal respiratory abnormalities it is essential to carry out examination imaging and genetic evaluation for the diagnosis of this condition, so complex, with unique therapeutic needs. This set of findings, along with the familial history and unique phenotypic characteristics reinforce the clinical genetic diagnosis JS. This genetic syndrome is rarely recognized and deserves to be presented to the recognition of the scientific community, targeting the correct diagnosis and treatment planning that minimizes the deleterious effects of this condition.


Subject(s)
Humans , Male , Child , Retina/abnormalities , Cerebellum/abnormalities , Developmental Disabilities/etiology , Eye Abnormalities/complications , Kidney Diseases, Cystic/complications , Language Disorders/etiology , Retina/pathology , Retina/diagnostic imaging , Abnormalities, Multiple/pathology , Abnormalities, Multiple/diagnostic imaging , Magnetic Resonance Imaging , Cerebellum/pathology , Cerebellum/diagnostic imaging , Eye Abnormalities/pathology , Eye Abnormalities/diagnostic imaging , Kidney Diseases, Cystic/pathology , Kidney Diseases, Cystic/diagnostic imaging
11.
An. bras. dermatol ; 91(5,supl.1): 23-25, Sept.-Oct. 2016. graf
Article in English | LILACS | ID: biblio-837921

ABSTRACT

Abstract Congenital hemangioma is a benign tumor caused by dysfunction in embryogenesis and vasculogenesis, which progresses during fetal life to manifest as fully developed at birth. Although hemangiomas are the most common tumor of infancy, rapidly involuting congenital hemangioma has not been described in spondylocostal dysostosis. I report the novel association of congenital hemangioma and spondylocostal dysostosis in a Mexican newborn female patient with neural tube defects. Given the embryological relationship between skin and nervous system, I surmise that this association is not coincidental. I also propose that these morphologic alterations be incorporated to the spondylocostal dysostosis phenotype and specifically looked for in other affected children, in order to provide appropriate medical management and genetic counseling.


Subject(s)
Humans , Female , Infant, Newborn , Skin Neoplasms/congenital , Abnormalities, Multiple/pathology , Hemangioma/congenital , Hernia, Diaphragmatic/pathology , Nervous System Neoplasms/congenital , Skin Neoplasms/pathology , Skin Neoplasms/diagnostic imaging , Thoracic Vertebrae/abnormalities , Thoracic Vertebrae/diagnostic imaging , Abnormalities, Multiple/diagnostic imaging , Meningomyelocele/pathology , Meningomyelocele/diagnostic imaging , Hemangioma/pathology , Hemangioma/diagnostic imaging , Hernia, Diaphragmatic/diagnostic imaging , Nervous System Neoplasms/pathology , Nervous System Neoplasms/diagnostic imaging , Neural Tube Defects/pathology , Neural Tube Defects/diagnostic imaging
13.
An. bras. dermatol ; 91(3): 378-380, graf
Article in English | LILACS | ID: lil-787300

ABSTRACT

Abstract: CLOVES syndrome is a rare, newly described, and relatively unknown syndrome, related to somatic mutations of the PIK3CA gene. Clinical findings include adipose tissue overgrowth, vascular malformations, epidermal nevi, scoliosis, and spinal deformities. This report deals with a characteristic phenotype case, highlighting peculiar cutaneous and radiological changes.


Subject(s)
Humans , Male , Child, Preschool , Vascular Malformations/diagnosis , Lipoma/diagnosis , Musculoskeletal Abnormalities/diagnosis , Nevus/diagnosis , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/diagnostic imaging , Magnetic Resonance Imaging , Adipose Tissue/abnormalities , Vascular Malformations/diagnostic imaging , Photograph , Lipoma/diagnostic imaging , Musculoskeletal Abnormalities/diagnostic imaging , Nevus/diagnostic imaging
14.
Rev. chil. obstet. ginecol ; 80(4): 331-336, ago. 2015. ilus, tab
Article in Spanish | LILACS | ID: lil-759068

ABSTRACT

La asociación MURCS (Mullerian aplasia, Renal aplasia, Cervicothoracic Somite dysplasia) (OMIM%601076) hace referencia a un conjunto de anomalías congénitas, que sin ser debidas al azar, aparecen de forma concomitante en una persona. Se caracteriza por una aplasia Mülleriana, aplasia renal y displasia cérvico-torácica provocadas por alteraciones en los somitas correspondientes, es de etiología heterogénea. Se presenta el caso de una paciente de 9 años de edad, que es diagnosticada con la asociación MURCS, por presentar agenesia uterina, hipoplasia y ectopia renal unilateral y malformación de la 5ta vértebra cervical. Se enfatiza en la importancia de la búsqueda activa de las otras anomalías diferentes a las Müllerianas para lograr el diagnóstico y realizar un manejo integral e interdisciplinario.


The MURCS association (Mullerian aplasia, renal aplasia, Cervicothoracic Somite dysplasia) (OMIM%601076) refers to a set of congenital abnormalities, without being due to chance, they appear concomitantly in a person. It is characterized by Müllerian aplasia, renal aplasia and cervicothoracic dysplasia caused by alterations in the corresponding somites. We describe a case report of a 9-year-old female, who is diagnosed with MURCS association, to present uterine agenesis, hypoplasia and unilateral renal ectopia and deformity of the 5th cervical vertebra. We emphasize the importance of interdisciplinary care, including a clinical geneticist in the care of patients with these characteristics.


Subject(s)
Humans , Female , Child , Spine/abnormalities , Abnormalities, Multiple/diagnostic imaging , Fallopian Tubes/abnormalities , Kidney/abnormalities , Spine/diagnostic imaging , Syndrome , Magnetic Resonance Imaging , Radiography , Radionuclide Imaging , Fallopian Tubes/diagnostic imaging , Kidney/diagnostic imaging
16.
Article in English | IMSEAR | ID: sea-139755

ABSTRACT

Dental anomalies have been known to occur in humans due to a variety of genetic and environmental factors. Combinations of dental anomalies are known to be associated with specific syndromes. A few cases of multiple dental anomalies have been reported in patients with no generalized abnormalities. This case report describes an unusual occurrence of a combination of dental anomalies in an apparently normal healthy 12-year-old female patient. The dental anomalies in this patient were multiple dens invaginatus, generalized enamel hypoplasia, generalized microdontia, root resorption and multiple periapical lesions, shovel shaped incisors, cup shaped premolars, taurodontism, hypodontia and supernumerary teeth.


Subject(s)
Abnormalities, Multiple/pathology , Abnormalities, Multiple/diagnostic imaging , Child , Consanguinity , Female , Humans , Mandible , Maxilla , Syndrome , Tooth Abnormalities/pathology , Tooth Abnormalities/diagnostic imaging
19.
JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2007; 17 (1): 57-58
in English | IMEMR | ID: emr-83232

ABSTRACT

Mayer Rokitansky Kuster Hauser [MRKH] syndrome is a rare disorder, characterized by the congenital absence of uterus and associated renal tract anomalies. The case presented with primary amenorrhea and primary infertility, despite development of normal female secondary sexual characteristics. CT scan revealed absent uterus, a solitary left sided pelvic kidney and a vesicovaginal communication that, on cystoscopy, revealed urogenital sinus anomaly manifesting as a common channel formed due to absent anterior wall of vagina and posterior wall of urethra. The urogenital sinus anomaly in MRKH syndrome has not been reported earlier


Subject(s)
Humans , Female , Mullerian Ducts/abnormalities , Abnormalities, Multiple/diagnostic imaging , Syndrome , Vesicovaginal Fistula/etiology , Vesicovaginal Fistula/diagnostic imaging , Tomography, X-Ray Computed
20.
Indian J Pediatr ; 2006 Apr; 73(4): 287-93
Article in English | IMSEAR | ID: sea-80088

ABSTRACT

OBJECTIVES: To correlate prenatal and postnatal findings of urorectal septum malformation sequence and to study spectrum of malformation. METHODS: Nine cases were reviewed with features suggestive of urorectal septum malformation (URSM) sequence. Associated anomalies were studied. Sex of the fetus was assigned by karyotype when available or by examination of internal genitalia. RESULTS: Out of nine cases 5 fetuses were male and 4 were female. Gestational age ranged from 14 to 34 weeks. Six cases were complete URSM sequence and 3 were partial URSM sequence. Associated anomalies of other systems were seen in 4 cases. In one case karyotype was 47, XXY. CONCLUSION: Cases with severe oligohydromnios with or without distended bladder, URSM sequence should be suspected, as this condition is usually lethal. Non-visualization of bladder, presence of hydronephrosis, multicystic kidneys or distended gut loops suggests the possibility of URSM sequence. The confirmation of diagnosis is possible after autopsy. Associated malformation of other organs and deformation due to oligohydromnios are commonly present.


Subject(s)
Abnormalities, Multiple/diagnostic imaging , Anal Canal/abnormalities , Fatal Outcome , Female , Humans , Male , Oligohydramnios/etiology , Physical Examination , Pregnancy , Syndrome , Ultrasonography, Prenatal , Urogenital Abnormalities/diagnostic imaging
SELECTION OF CITATIONS
SEARCH DETAIL