Understanding Van der Knaap’s Disease: A Case Report on Megalencephalic Leukoencephalopathy

Vismit Gami; Tushar Teraiya; Sahil Shah; Dev Desai

doi:10.20944/preprints202312.1273.v1

Preprint Case Report Version 1 Preserved in Portico This version is not peer-reviewed

Version 1 : Received: 16 December 2023 / Approved: 18 December 2023 / Online: 18 December 2023 (07:08:51 CET)

Presenting a case report about a 14-year-old female patient presenting with a history of weakness in all four limbs since the age of 5. The patient has a history of difficulty in walking, wearing footwear, climbing stairs, and performing fine motor tasks. During the neurological examination showed mild spasticity, muscle weakness, areflexia, ill-sustained clonus, and sensory deficits. Radiological examination, including a contrast-enhanced MRI of the brain was done which showed findings that are consistent with Megalencephalic leukoencephalopathy with subcortical cysts, also known as Van der Knaap disease.

Hypomyelination; Megalocephaly; Brain Disease; Subcortical Cyst; MRI

Medicine and Pharmacology, Neuroscience and Neurology

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Understanding Van der Knaap’s Disease: A Case Report on Megalencephalic Leukoencephalopathy

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