When the head is big, think this too: Megalencephalic leukoencephalopathy in a toddler with only a large head. A case report

Abstract

We present a one-year old, developmentally normal toddler from a non Agarwal community, who presented to us with only a large head. The examination findings were unremarkable except a large head circumference. Neuroimaging confirmed the diagnosis of megalencephalic leukoencephalopathy (MLC). Although developmental delay and seizures are common manifestations in MLC, we want to highlight the fact that many children like ours may have no neurological manifestations at all which makes it necessary to do neuroimaging to establish the diagnosis and offer genetic testing for confirmation of the same.

Keywords

• cysts
• demyelination
• developmental disabilities
• hereditary central nervous system demyelinating diseases
• megalencephaly
• van der knaap disease
• white matter