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Noncovalent attractions are associations within and between molecules that influence the shape and structural stability of complexes. These interactions differ from covalent bonding in that they do not involve sharing of electrons.
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Van der Knaap Disease.

Maria R Bokhari1, Faisal Inayat2, Javeria Sardar3

  • 1Department of Radiology, Jinnah Hospital, Lahore, Pakistan.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|October 30, 2018
PubMed
Summary
This summary is machine-generated.

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.

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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.