Hemimegalencephaly

Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis (see these terms). Management includes seizure control by antiepileptic medications and early hemispherectomy.

Facial asymmetry

An abnormal difference between the left and right sides of the face.


Total: 3

                      


(per page)
PMID (PMCID)
22200538
MALE
Hemimegalencephalic variant of epidermal nevus syndrome: case report and literature review.
Pavlidis E, Cantalupo G, Boria S, Cossu G, Pisani F.
Eur J Paediatr Neurol. 2012;16(4):332-42.
A 13-year-old boy with the neurologic variant of ENS with hemimegalencephaly, facial asymmetry, febrile seizures and mental retardation is reported.
9308983
FEMALE Infant
Sebaceous nevus syndrome: report of two cases.
Bonioli EV, Bertola A, Di Stefano A, Bellini C.
Pediatr Neurol. 1997;17(1):77-9.
Considering that about half of the SN patients with hemimegalencephaly described so far do not have facial asymmetry, we suggest the existence of a separate subgroup of SN patients with hemimegalencephaly and without facial hemihypertrophy.
9308983
FEMALE Infant
Sebaceous nevus syndrome: report of two cases.
Bonioli EV, Bertola A, Di Stefano A, Bellini C.
Pediatr Neurol. 1997;17(1):77-9.
Considering that about half of the SN patients with hemimegalencephaly described so far do not have facial asymmetry, we suggest the existence of a separate subgroup of SN patients with hemimegalencephaly and without facial hemihypertrophy.