Case Report
Year: 2023 | Month: April-June | Volume: 8 | Issue: 2 | Pages: 491-494
DOI: https://doi.org/10.52403/ijshr.20230264
Van der Knaap Syndrome: Rare Case with an Atypical Presentation: A Case Report
Monalisa Panjwani1, Chatterjee Rajib2
1Post Graduate Resident, Department of Pediatrics, 2Professor and HOU, Department of Pediatrics,
Dr. BVP Rural Medical College, PIMS University, Loni, Ahmednagar, India
Corresponding Author: Monalisa Panjwani
ABSTRACT
Megalencephalic leukoencephalopathy with subcortical cysts, Van der Knaap Disease, is an autosomal recessive disorder seen in populations where consanguinity is common.
It is a slowly progressive neurodegenerative disorder with infantile megalencephaly, neurological symptoms like ataxia and seizures and leukoencephalopathy.
Prevalence is less than 1 in 1,000,000.
Predisposed populations are the Libyan Turks, Egyptians, Jews and the Agrawal community of India.
Here we present a case of a macrocephalic 4 month old female with infantile seizures with follow up at 8 months of age, having typical MRI findings of Van der Knaap disease and symptomatic worsening after meningitis.
The case presented being of a non Agrawal family in India and born of a non consanguineous marriage is an atypical and rare presentation, indicating that the syndrome may be seen in other communities as well.
Keywords: Megalencephalic leucoencephalopathy, vanishing white matter, Van der Knaap, neuroradiology, subcortical cysts, macrocephaly, developmental delay, ataxia, myelination, autosomal recessive, genetics, seizure, magnetic resonance imaging, magnetic resonance spectroscopy, brain