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Van der Knaap Disease
Maria R Bokhari1, Faisal Inayat2, Javeria Sardar3
1Department of Radiology, Jinnah Hospital, Lahore, Pakistan.
Abstract:
Van der Knaap disease or megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare, inherited, autosomal recessive disorder. It is characterised by macrocephaly and slowly progressive ataxia, spasticity, and cognitive decline. The usual age of onset is described from birth to infancy. MLC predominantly occurs in some ethnicities where consanguinity is common. This disease is caused by mutations in the gene, which encodes a novel protein, MLC1. The characteristic MRI findings include leukodystrophy and subcortical cysts that yield diagnostic clue in most of the cases. The diagnosis can be established prenatally and genetic counseling is usually offered for future pregnancies. Herein, we chronicle a case of Van der Knaap disease from Pakistan with the classical MRI features.
Insights
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic disorder causing macrocephaly and progressive neurological decline. This case highlights classical MRI findings in a Pakistani patient, aiding diagnosis and genetic counseling.
Area of Science:
- Neurogenetics
- Pediatric Neurology
- Radiology
Background:
- Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare, autosomal recessive inherited neurological disorder.
- Characterized by macrocephaly, progressive ataxia, spasticity, and cognitive decline, typically presenting from birth to infancy.
- MLC is more prevalent in certain ethnicities with common consanguinity.
Observation:
- The condition is caused by mutations in the MLC1 gene, encoding a novel protein.
- Characteristic magnetic resonance imaging (MRI) findings include leukodystrophy and subcortical cysts.
- A case of Van der Knaap disease presenting with classical MRI features in a patient from Pakistan is described.
Findings:
- The study details a case of Van der Knaap disease, also known as megalencephalic leukoencephalopathy with subcortical cysts (MLC).
- Classical MRI findings, including leukodystrophy and subcortical cysts, were observed, aiding in diagnosis.
- The genetic basis involves mutations in the MLC1 gene.
Implications:
- Prenatal diagnosis of MLC is possible.
- Genetic counseling is recommended for families with a history of the disorder.
- This case report contributes to understanding MLC in diverse ethnic populations and reinforces the diagnostic utility of MRI.
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