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Agrawal Disease (Megalencephalic Leukoencephalopathy with Subcortical Cysts): A Rare Neurological Case Report

Sanket Vinubhai Davra1, Ratnapriya Srivastava2, Prashant Rawat1

  • 1Department of Radiodiagnosis, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Maharashtra, India.

Annals of African Medicine
|November 25, 2025
PubMed

Insights

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare brain disorder. Early diagnosis is crucial, even in nonconsanguineous families, for managing this progressive condition.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic leukodystrophy.
  • Characterized by early-onset macrocephaly, developmental delay, and motor decline.
  • Distinctive MRI findings include diffuse white matter changes and subcortical cysts.

Purpose of the Study:

  • To report a case of MLC in a 10-month-old female from North India.
  • To emphasize the importance of early diagnosis in managing MLC.
  • To highlight diagnostic considerations in nonconsanguineous families.

Main Methods:

  • Clinical presentation analysis of a pediatric patient.
  • Magnetic Resonance Imaging (MRI) for characteristic findings.
  • Review of diagnostic criteria for MLC.

Main Results:

  • The patient presented with macrocephaly and developmental delay.
  • MRI confirmed classic features of Megalencephalic leukoencephalopathy with subcortical cysts.
  • The case originated from a nonconsanguineous Agarwal family.

Conclusions:

  • Early diagnosis of MLC is vital for timely intervention and management.
  • MLC should be considered in infants with macrocephaly and developmental delay, regardless of family history.
  • Genetic predisposition within communities warrants attention for rare diseases like MLC.
Keywords:
Leucodystrophieimagerie par résonance magnétiquekystes sous-corticauxleucoencéphalopathie mégalencéphaliqueleukodystrophymacrocephalymacrocéphaliemagnetic resonance imagingmegalencephalic leukoencephalopathynon consanguinnonconsanguineoussubcortical cysts

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