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Updated: Apr 28, 2026
An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
Developmental Delay and Macrocephaly Unraveling a Leukodystrophy: A Case Report
Monica Potru1, Ankita Pandey2, Jitesh Rawat1
1Department of Radiology, Dr. Rajendra Gode Medical College, Amravati, IND.
Abstract:
An uncommon inherited autosomal recessive disorder, Van der Knaap disease is also referred to as megalencephalic leukoencephalopathy with subcortical cysts (MLC). Megalencephaly, which either develops at birth or during infancy, along with seizures and a mild motor development delay, is its defining characteristic. Leukodystrophy and subcortical cystic degeneration are the two MRI abnormalities that are indicative of the illness and typically provide the key to diagnosis. The disease is more common in certain ethnicities, like the Aggarwal community in India, where marriages within the community are common. Here, we describe an Indian patient from a non-Aggarwal community born out of a non-consanguineous marriage who had Van der Knaap disease with the typical MRI features.
Insights
Van der Knaap disease, a rare genetic disorder, causes enlarged head size and brain abnormalities. This report details a case in an Indian patient, highlighting typical MRI findings.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Van der Knaap disease, or megalencephalic leukoencephalopathy with subcortical cysts (MLC), is an uncommon inherited autosomal recessive disorder.
- Key features include megalencephaly developing at birth or infancy, seizures, and mild motor development delay.
- Diagnosis relies on characteristic MRI findings of leukodystrophy and subcortical cystic degeneration.
