Progressive unilateral hemispheric atrophy in an infant with neurofibromatosis.
BACKGROUND
Cerebrovascular diseases are rarely seen in neurofibromatosis type 1. These include vascular occlusive disease, moyamoya vessels, aneurysms, arteriovenous malformations and fistulae.


METHODS
We describe the case of an infant with genetically proven neurofibromatosis type 1 and progressive brain hemiatrophy over months, due to primary narrowing of intracranial carotid artery branches, as demonstrated by successive brain imaging. She presented with refractory seizures and a progressive hemiparesis associated with developmental delay. Surgical material from hemispherotomy done at 18 months showed severe abnormalities of the small vessels.


CONCLUSIONS
Cerebrovascular changes seen in neurofibromatosis can be diffuse and progressive, with secondary hemiparesis, epilepsy and developmental delay.
Wintermark
P
P
Unit of Pediatric Neurology and Rehabilitation, Medico-Surgical Department of Pediatrics, University Hospital (CHUV) and Lausanne Medical School, Lausanne, Switzerland. Pia.Wintermark@bluemail.ch
Meagher-Villemure
K
K
Villemure
J-G
JG
Maeder-Ingvar
M
M
Maeder
P
P
Ghariani
S
S
Roulet-Perez
E
E
D001284:Atrophy; D001921:Brain / Q000473:pathology*; D002561:Cerebrovascular Disorders / Q000209:etiology* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000473:pathology*