ABSTRACT
Os autores relatam um caso de diagnóstico pré-natal de síndrome de Meckel-Gruber em gestante de 12 anos de idade. A primeira ultra-sonografia, realizada na 32ª semana, identificou feto único portador de microcefalia, volumosa encefalocele na linha média da região occipital, lábio leporino completo bilateral e fenda palatina. Os rins encontravam-se de dimensões e ecotextura aumentadas, medindo cerca de 12 cm de comprimento, levando a importante aumento do volume abdominal. A genitália fetal não foi identificada, sendo visualizada pequena imagem cística na sua topografia.Em função da presença de oligodramnia, foi realizada ressonância magnética na 33ª semana, que confirmou os achados ultra-sonográficos e demonstrou uma lisencefalia. Na 34ª semana, a gestação evoluiu com amniorrexe prematura, sendo realizada cesariana, com retirada de natimorto, posteriormente encaminhado à necropsia. Polidactilia foi a única alteração presente não-identificada pelos métodos de imagem.
The authors report a case of antenatal ultrasound diagnosis of Meckel-Gruber syndrome in a 12-year-old pregnant girl. The first scan done at 32 weeks of gestation revealed a single fetus withmicrocephaly, large encephalocele in the occipital mid-line region, bilateral complete cleft lip, and cleft palate. The kidneys and their ecotexture were found to be enlarged, measuring about 12 cm in length, causing an important enlargement of the abdomen. The fetus' genitals were not identified, but a small cystic image was visualized in their topography. Due to the presence of oligohydramnios, a magnetic resonance was performed at 33 weeks of gestation,which confirmed the sonographic findings and demonstrated a lisencephaly. A premature rupture of membranes occurred at 34 weeks of gestation, upon which a caeserian section was performed, the stillborn baby removed and subsequently taken for a necropsy. Polydactyly was the only anomaly present which was not identified by the imaging methods used.
Subject(s)
Humans , Female , Pregnancy , Child , Classical Lissencephalies and Subcortical Band Heterotopias , Encephalocele/diagnosis , Cleft Lip/diagnosis , Fetus/abnormalities , Magnetic Resonance Spectroscopy , Polydactyly/diagnosis , Polycystic Kidney, Autosomal Recessive/diagnosis , Ultrasonography, Prenatal , Diagnosis, DifferentialABSTRACT
El Trastorno de Migración Neuronal (TMN) se caracteriza por una serie de malformaciones del Sistema Nervioso Central (SNC) que ocurre entre el segundo y quinto mes de gestación; de etiologías variadas. Producen grados diversos de retardo psicomotriz, convulsiones y otras manifestaciones dependiendo de las áreas afectadas. Presentamos el caso de una paciente de 3 meses de edad, sexo femenino, que presentó convulsiones caracterizadas por espasmos en flexión desde el nacimiento, frecuentes y de corta duración, resistentes a tratamiento anticonvulsivante, sin antecedentes infecciosos, obtenida por cesárea sin complicaciones. Se realizó una TAC, un EEG y una RMN, revelando lisencefalia, hemimegalencefalia y esquizoencefalia del hemisferio cerebral derecho e hipoplasia del cuerpo calloso.
The Neuronal Migration Disorder is characterized by a series of malformations of central nervous system that occur between the second and fifth month of gestation; of different etiologies. Have many grades of psychomotor retarded, seizures and others manifestations depending of affect areas. Present a clinic case of a patient of 3 month old, feminine sex, who presents seizures by spasm in flexion since born, frequent and short durations, resistant a anticonvulsant treatment, without infection record, obtained by caesarean without complications. Performed a TAC, a EEG and a RMN, showed a lisencephaly, hemimegalencephaly and schizoencephaly of right cerebral hemisphere and callus body hipoplasia.