Diseases

Cobblestone Lissencephaly

The smooth pebbled appearance of the CEREBRAL CORTEX with a thickened cortex and reduced and abnormal white matter, which results from migration of heterotopic neurons beyond the marginal zone into the leptomeninges through gaps in the external BASEMENT MEMBRANE. There is also enlarged ventricles, underdeveloped BRAINSTEM and cerebellum, and absence of the CORPUS CALLOSUM. These abnormalities occur as a syndrome without other birth defects (cobblestone complex) or in other syndromes associated with congenital MUSCULAR DYSTROPHY, often involving the eye, such as the Walker-Warburg Syndrome, Fukuyama congenital muscular dystrophy, and muscle-eye-brain disease.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

The smooth pebbled appearance of the CEREBRAL CORTEX with a thickened cortex and reduced and abnormal white matter, which results from migration of heterotopic neurons beyond the marginal zone into the leptomeninges through gaps in the external BASEMENT MEMBRANE. There is also enlarged ventricles, underdeveloped BRAINSTEM and cerebellum, and absence of the CORPUS CALLOSUM. These abnormalities occur as a syndrome without other birth defects (cobblestone complex) or in other syndromes associated with congenital MUSCULAR DYSTROPHY, often involving the eye, such as the Walker-Warburg Syndrome, Fukuyama congenital muscular dystrophy, and muscle-eye-brain disease.

MeSH Record

Classification

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MeSH Record

Synonyms

9 entry terms
  • Cobblestone Dysplasia
  • Lissencephaly Type 2
  • Cobblestone Dysplasias
  • Cobblestone Lissencephalies
  • Dysplasia, Cobblestone
  • Dysplasias, Cobblestone
  • Lissencephalies, Cobblestone
  • Lissencephaly, Cobblestone
  • Cobblestone Complex

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2008

MeSH Record

Previous Indexing

  • Cerebral Cortex/abnormalities (1996-2007)

MeSH Hierarchy

Tree Numbers

  1. C10w.500w.507.450w.499w.249
  2. C16w.131w.666w.507.450w.249
  3. C16w.131w.666w.507.450w.499w.249

AMA Style

References

  1. National Library of Medicine. Cobblestone Lissencephaly. Medical Subject Headings (MeSH). 2026. Unique ID D054222. http://id.nlm.nih.gov/mesh/2026/D054222
  2. Cobblestone Lissencephaly. In: Wikidata. https://www.wikidata.org/wiki/Q54912176