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Virtual Pediatric Hospital: Paediapaedia: Microencephaly Paediapaedia: Neurological Diseases

Microencephaly

Michael P. D'Alessandro, M.D.
Peer Review Status: Internally Peer Reviewed


Clinical Presentation:
Not applicable

Etiology/Pathophysiology:
A small cranial vault (microcrania) almost always due to a small brain (micrencephaly). Causes of micrencephaly are genetic / chromosomal defects (phenylketonuria, aminoaciduria, Down's Syndrome), intrauterine infection (TORCH), and intrauterine trauma (radiation).

Pathology:
Not applicable

Imaging Findings:
Have progressive craniofacial disproportion due to lack of brain growth with continued normal growth of the chondrocranium and face. The sutures are narrow and fuse prematurely. The mastoids air cells and paranasal air cells are large. The calvarium is very think and the normal convolutional markings are reduced.

DDX:

References:
See References Chapter.

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