Isolated Nonsyndromic Hemimegalencephaly Presenting at Neonatal Age - A Case Report.

ABSTRACT

Hemimegalencephaly (HME) is a relatively rare sporadic brain malformation characterized by enlargement of one cerebral hemisphere. It has a variable presentation and may include partial seizures to epileptic encephalopathy, hemiparesis and psychomotor retardation. Epilepsy associated with HME is usually refractory to antiepileptic drugs and requires surgical intervention. Diagnosis of HME may be delayed in the absence of detailed examination and high index of suspicion giving rise to poor quality of life prior to surgery. We report, a case of a male neonate, with radiological features of HME picked up within seven days after birth. This was possible as antenatal ultrasonography was showing dilatation of the right lateral ventricle of the fetus. Baby had macrocephaly at birth and refractory convulsions from day two of life. Convulsions were managed successfully. Baby was discharged on necessary treatment and parents were given appropriate counseling. Careful examination and high index of suspicion can help in early diagnosis and better outcome. Our review of the literature did not yield any reports of patients with isolated non-syndromic HME presenting with refractory seizures as initial presentation in the neonatal age group. To our knowledge, this is the first report of its kind.