Autosomal recessive microcephaly with early onset seizures and spasticity.
We describe two siblings, a male and a female pair, born of consanguineous parents, affected with a rare genetic form of congenital microcephaly. The clinical syndrome is characterized by early onset myoclonic seizures, spasticity, and profound psychomotor retardation without detectable brain malformations. To date, only two kindreds and one sporadic case with a similar clinical picture have been observed and reported (Tolmie et al. 1987, Bundey & Griffiths 1977). The severity of the neurological features and their perinatal onset differentiate the syndrome from the more common autosomal recessive microcephaly with spasticity/seizures.
Silengo
M
M
Istituto di Discipline Pediatriche, Università di Torino, Italy.
Lerone
M
M
Martinelli
M
M
Martucciello
G
G
Caffarena
P E
PE
Jasonni
V
V
Romeo
G
G
D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000150:complications / Q000235:genetics*; D009128:Muscle Spasticity / Q000150:complications; D010375:Pedigree; D013036:Spasms, Infantile / Q000150:complications