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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.

Cureus
|April 27, 2026
PubMed
Summary

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.

Keywords:
delayed motor milestonesmacrocephalymegalencephalic leukoencephalopathymlc1 gene mutationpediatric neurologysubcortical cystsvan der knaap disease

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