[Lobstein's disease presenting with seizures].
Osteogenesis imperfecta (OI) is a group of hereditary disorders most often due to an anomaly of collagen biosynthesis. Divers clinical manifestations are reported. Neurological manifestations are exceptional. A 40-year-old man with a history of multiple bone fractures was admitted for a generalized tonic-clonic seizure. There was no metabolic disorder, the patient however complained of bilateral shoulder pain. Standard radiography and shoulder MRI revealed bilateral humeral fractures. The electroencephalogram and the brain MRI showed no abnormalities. He was given valproate acid and eight months later was free of crises. Search for an etiological favored the diagnosis of Lobstein disease.
Boughammoura-Bouatay
A
A
Service de Neurologie CHU de Monastir, 5000 Monastir, Tunisia.
Chebel
S
S
Aissi
M
M
Koubaa
M
M
Frih-Ayed
M
M
D000328:Adult; D001249:Asthma / Q000150:complications; D004569:Electroencephalography; D004830:Epilepsy, Tonic-Clonic / Q000175:diagnosis / Q000209:etiology; D006801:Humans; D006810:Humeral Fractures / Q000209:etiology / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D010013:Osteogenesis Imperfecta / Q000175:diagnosis*; D012640:Seizures / Q000175:diagnosis* / Q000209:etiology*; D020069:Shoulder Pain / Q000150:complications