[Lateral gaze palsy and progressive scoliosis in 4 Tunisian families].
In 1975, Sharpe and Silversides described a neurological entity in a Chinese family. Clinical picture was characterized by paralysis of horizontal gaze, pendular nystagmus and progressive scoliosis. To date, 43 cases have been reported. The pathogenesis remains unclear. The Authors report four Tunisian families with 12 affected individuals. The age of patients ranges from 6 to 34 Years. All examined patients have complete lateral gaze palsy, pendular nystagmus and progressive scoliosis. Blood routine tests, cerebrospinal fluid (CSF), evoked potentials, electromyography (EMG), muscle biopsy, CT scan and cerebral MRI were normal. Autosomal recessive (AR) mode of inheritance is the most probable pattern.
El Bahri-Ben Mrad
F
F
Service de Neurologie, Institut National de Neurologie, Tunis, Tunisie. feriel.mrad@rns.tn
Gouider-Khouja
N
N
Gabsi
S
S
Larnaout
A
A
Boughammoura
A
A
Kefi
M
M
Belal
S
S
Hentati
F
F
D000293:Adolescent; D000328:Adult; D002648:Child; D018450:Disease Progression; D005260:Female; D006801:Humans; D008297:Male; D009886:Ophthalmoplegia / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012600:Scoliosis / Q000150:complications / Q000235:genetics*; D014416:Tunisia