Marta Wey Vieira

Johanson-Blizzard syndrome: the importance of differential diagnostic in pediatrics

OBJECTIVE To promote a clinical entity that could be part of differential diagnosis of most disorders that affect the pediatric age group. DESCRIPTION We describe a Brazilian girl affected by Johanson-Blizzard syndrome and review the literature. COMMENTS Johanson-Blizzard syndrome is an autosomal recessive condition characterized by hypoplastic alae nasi, scalp defect, deafness and pancreatic insufficiency with malabsorption. Looking at the major signs, this disorder should be considered as differential diagnosis in several pediatric diseases.

Pseudoaneurisma da artéria poplítea em um paciente com Síndrome de Ehlers-Danlos Tipo VI

A Sindrome de Ehlers-Danlos (EDS) e uma rara doenca hereditaria do tecido conjuntivo proveniente de uma alteracao da sintese do colageno. A principal caracteristica da EDS e a extrema fragilidade do tecido conjuntivo, que pode resultar em rotura uterina, perfuracao intestinal espontânea e varias doencas vasculares como aneurismas, pseudoaneurismas, disseccoes arteriais e roturas espontâneas. Os autores relatam o caso de um paciente de 11 anos de idade que apresentava tumor pulsatil na fossa poplitea esquerda apos trauma leve com bola de futebol. Diagnosticado pseudoaneurisma de arteria poplitea pelo doppler arterial, confirmado atraves da angiografia, optou-se pela exploracao arterial e devido a fragilidade da parede nao foi possivel a sua reconstrucao. Realizada a ligadura simples da arteria proximal. Evoluiu com isquemia grave do membro e apos autorizacao da familia foi realizada a sua amputacao. No segundo dia do pos-operatorio o paciente apresentou uma disseccao aguda da aorta toracica, evoluindo a obito.

Malformação de Dandy-Walker

Dandy-Walker malformation is characterized by complete or partial agenesis of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa with displacement of the lateral sinuses. This article aims to present current, anatomical, etiological, pathophysiological, syndromic and treatment aspects of this malformation.

Síndrome de Johanson-Blizzard: importância do diagnóstico diferencial em pediatria

OBJECTIVE To promote a clinical entity that could be part of differential diagnosis of most disorders that affect the pediatric age group. DESCRIPTION We describe a Brazilian girl affected by Johanson-Blizzard syndrome and review the literature. COMMENTS Johanson-Blizzard syndrome is an autosomal recessive condition characterized by hypoplastic alae nasi, scalp defect, deafness and pancreatic insufficiency with malabsorption. Looking at the major signs, this disorder should be considered as differential diagnosis in several pediatric diseases.