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Year : 2021  |  Volume : 10  |  Issue : 6  |  Page : 2416-2418

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

Department of Pediatrics, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India

Correspondence Address:
Dr. Joseph John
Department of Pediatrics, AIIMS, Bhubaneswar, Odisha - 751 019
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jfmpc.jfmpc_2012_20

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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.

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