Proteus syndrome associated with hemimegalencephaly and Ohtahara syndrome: report of two cases.
The authors report two cases of Brazilian children with most of the common syndromic features of Proteus syndrome, such as asymmetric overgrowth of tissues, skin abnormalities, hypotonia and mental retardation. In both patients, a refractory epilepsy, compatible with Ohtahara syndrome, as well as hemimegalencephaly, with asymmetric distribution of facial fat, were also diagnosed.
Bastos
Halisson
H
Child Neurology, Hospital de Clínicas de Porto Alegre (HCPA), Universidade Federal do Rio Grande do Sul (UFRGS), Rua Ramiro Barcelos, 2350, CEP 90035-003, Porto Alegre, Brazil. halisson.bastos@gmail.com
da Silva
Paula Fabiana Sobral
PF
de Albuquerque
Marco Antônio Veloso
MA
Mattos
Adriana
A
Riesgo
Rudimar Santos
RS
Ohlweiler
Lygia
L
Winckler
Maria Isabel Bragatti
MI
Bragatti
José Augusto
JA
Duarte
Rodrigo Dias
RD
Zandoná
Denise Isabel
DI
D000927:Anticonvulsants / Q000627:therapeutic use; D004569:Electroencephalography; D004830:Epilepsy, Tonic-Clonic / Q000150:complications* / Q000473:pathology; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D054220:Malformations of Cortical Development / Q000150:complications* / Q000473:pathology; D009421:Nervous System Malformations / Q000150:complications* / Q000473:pathology; D011379:Prognosis; D016715:Proteus Syndrome / Q000150:complications* / Q000473:pathology; D012640:Seizures / Q000188:drug therapy / Q000209:etiology; D013577:Syndrome
D000927:Anticonvulsants