An Infant With Seizures and Macrocephaly

Abstract

A 1-year-old boy born of a consanguineous marriage with an uneventful birth history presented with recurrent generalized tonic-clonic seizures for 3 months and delayed developmental milestones. At the age of 1 year, he was unable to sit independently. Family history was not significant. Examination revealed head circumference 51.5 cm (>95th percentile for age) and mild spasticity with brisk deep tendon reflexes. Brain magnetic resonance imaging (MRI) findings were consistent with the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts (MLC) (Fig). MLC is a rare neurodegenerative white matter disease characterized by macrocephaly, mild motor and cognitive decline, seizures, ataxia, and pyramidal features. 1 MLC is an autosomal recessive disorder caused by MLC 1 gene mutation at chromosome 22q13.3. Van der Knaap et al. first described this disorder, and the eponym Van der Knaap disease is sometimes used. 1 The age of clinical onset varies from birth to 25 years and the disease is more prevalent in communities where consanguinity is common. 1 The majority of MLC patients have been reported from the Indian Aggarwal community. 2 The