Brain, tuberous sclerosis [LMP11869]

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Image Details
Diagnostic Modality: 
Whole Slide Image
Disease Category: 
Genetic Disorders
Diagnosis: 
Cortical tuber (tuberous sclerosis complex)
Species: 
Human
Organ System: 
Central Nervous System
Gender: 
Male
Age: 
31wk fetus
Diagnosis Code: 
ICD-10: Q85.1
Slide Contributor Information
Gao, A., Shannon, P.

Keywords

malformation of cortical development, hamartoma, fetal

Clinical History

Termination of pregnancy of male fetus at 31 weeks’ gestational age due to multiple abnormalities detected on prenatal ultrasound. On general autopsy, multiple cardiac rhabdomyomas were found.

Clinical Discussion

Tuberous sclerosis is an autosomal dominant, multisystem disorder in which the CNS, eyes, kidneys, skin, and heart are most commonly affected by malformative, hamartomatous, or neoplastic lesions; it is caused by mutations in TSC1 (9q34, hamartin) or TSC2 (16p13, tuberin). Brain abnormalities include cortical tubers that in some cases can involve large areas of the cerebral hemisphere (as in this case), subependymal nodules, and subependymal giant cell astrocytomas. Microscopically, tubers consist of an extremely disorganized cortex, with bizarre neuroglial cells and gemistocyte-like balloon cells. This disorganization involves the subcortical white matter and usually extends to the ventricular surface.