Brain, Lissencephaly Type 2 [LMP93757]

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Diagnostic Modality: 
Whole Slide Image
Disease Category: 
Genetic Disorders
Diagnosis: 
Lissencephaly, type 2
Species: 
Human
Organ System: 
Central Nervous System
Gender: 
Male
Age: 
22wk fetus
Diagnosis Code: 
ICD-10: Q04.3
Slide Contributor Information
Gao, A., Shannon, P.

Keywords

Cobblestone lissencephaly, malformation of cortical development, neuronal migration, glycosylation, Walker-Warburg syndrome

Clinical History

Termination of pregnancy at 22 weeks’ gestational age due to intracranial abnormalities detected on prenatal
ultrasound.

Clinical Discussion

Lissencephalies (“smooth brain”) are a group of rare brain disorders characterized by a loss of gyri and sulci, leading to a smooth external appearance. Type 2, or cobblestone, lissencephaly is usually associated with cerebellar and ocular abnormalities and congenital muscular dystrophy; these features define a family of syndromes, e.g. Walker-Warburg syndrome, and are due to genetic defects in glycosylation. Microscopically, the brain shows features of neuronal over-migration beyond the glia limitans: the cortex is highly disorganized, without signs of lamination; there is no preservation of the molecular layer; large-calibre leptomeningeal vessels become buried within the brain parenchyma. Over-migration also results in fusion across the midline, as seen in the dorsal and ventral frontal lobes in this case.

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