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Walker-Warburg syndrome variant.

Yüksel Pabuşçu1, Nail Bulakbasi, Murat Kocaoğlu

  • 1Department of Radiology, Gülhane Military Medical Academy, 06010, Ankara, Turkey.

Computerized Medical Imaging and Graphics : the Official Journal of the Computerized Medical Imaging Society
|November 28, 2002
PubMed
Summary
This summary is machine-generated.

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This case study details a rare infant with cobblestone lissencephaly and severe brain abnormalities. The findings highlight the complex neurological and ocular issues associated with this condition.

Area of Science:

  • Neuroscience
  • Developmental Biology
  • Ophthalmology

Background:

  • Cobblestone lissencephaly is a severe congenital brain malformation characterized by a cobblestone-like appearance of the cerebral cortex.
  • It is often associated with other developmental anomalies and significant neurological deficits.

Observation:

  • A 3-month-old Turkish infant presented with neonatal apnea and seizures.
  • Ocular findings included unilateral microphthalmia, retinal dysplasia, and internal strabismus.
  • Normal creatine kinase levels, electromyography, and blood biochemistry were noted.

Findings:

  • Magnetic resonance imaging revealed a thickened, irregular, agyric cobblestone cortex with unmyelinated white matter.
  • Additional findings included hydrocephalus, hypoplastic corpus callosum, brainstem and cerebellar abnormalities, retrocerebellar cyst, and posterior cephalocele.

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Implications:

  • This case underscores the diverse clinical spectrum and severe neurodevelopmental impact of cobblestone lissencephaly.
  • Highlights the importance of advanced neuroimaging in diagnosing complex cortical malformations.
  • Suggests potential links between specific genetic mutations and the observed ocular and central nervous system phenotypes.