Dados do Trabalho

Título

DANDY WALKER MALFORMATION VARIANT ASSOCIATED WITH REFRACTORY SEIZURES IN A 6-MONTH-OLD BABY: CASE REPORT

Apresentação do caso

Female, 6 months of age, only child of unrelated parents. Born at term, weighing 3335 g, by uneventful cesarean delivery. At 2 months of age, the infant started with episodes of seizures, bringing both arms close to the trunk and pushing both lower limbs back, happening once a day, and lasting a few seconds. There was ocular eversion during the episodes and eventual drowsiness after them. Over the time, a worsening of the seizures was observed by her parents, with an increase in the daily frequency (ranging from 3 to 15 a day) and duration (1 to 3 minutes). Eventually, she had peripheral cyanosis after seizures, which improved with oxygen. She was referred to the pediatric service to optimize anticonvulsivant treatment, which consisted of Phenytoin 18 mg/kg/day, Valproic Acid 40 mg/kg/day and Phenobarbital 4,5 mg/kg/day. Upon neurological examination, absence of meningeal signs, axial force reducted, plantar/palm grip absent and global hyperreflexia. The child presented a congenital ocular malformation, with irregular contours and reduced dimensions of the right eyeball. A cranial MRI of the supratentorial region showed complete agenesis of the corpus callosum, irregular contours and increased dimensions of the lateral ventricles and III ventricle, signs of colpocephaly, presence of subependymal nodular gray matter heterotopia in the right lateral ventricle frontal horn and hippocampi with rounded appearance, which may be related to poor rotation. In the infratentorial region, the exam showed the absence of visualization of part of the inferior vermis, with a retrocerebellar fluid collection, that communicated with the fourth ventricle, which had increased dimensions. Based on the radiological findings, the diagnosis of Dandy Walker malformation (DWM) variant was established. At the moment, the child is under clinical observation and remains hospitalized in order to control the seizures, which are still refractory, despite treatment with Phenobarbital 5 mg/kg/day, Phenytoin 5 mg/kg/day, Carbamazepine 2% 35 mg/ml, Clobazam 5 mg at night, Levetiracetam 40 mg/kg/day for 12/12 hours. No other complaints or complications.

Discussão

The Dandy Walker variant is a less severe and more common form of DWM. Regarding neurological manifestations, little is addressed in the literature on the management of refractory seizures in children with this diagnosis.

Comentários finais

Physicians should be aware of the neuroimaging features of DMW and its variants to provide proper support.

Declaração de conflito de interesses de TODOS os autores

The authors report having no conflicts of interest.