A family study of congenital malabsorption of folate.
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Biomedical subjects
Publications and source records attributed to S Jebnoun.
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The author report a new case of the syndrome described by Antley and Bixler. It concerns a female new-born who presents a craniosynostosis with brachycephaly, midface hypoplasia, unilateral choanal atresia, multiple joint contractures and arachnodactyly. There was no bowing of the femora and only the radius and the ulna were bowed. The absence of radiohumeral synostosis reported in all observations of the literature represents the main particularity of this observation.
BACKGROUND: Behçet's disease is very occasionally revealed by neurological abnormalities. This report describes such a case. CASE REPORT: A 13 year-old girl was admitted because of status epilepticus and fever. Clinical examination showed horizontal nystagmus, cerebellar syndrome, right hemiplegia, ophthalmoplegia and meningitis. Her CSF contained 80 lymphocytes/mm3, 0.75 milligram proteins and 0.5 milligram glucose. CT scan showed a hypodense area in the internal capsule. Two similar episodes occurred 4 and 6 months later, but all attempts at determining the etiology were negative. A diagnosis of neurological Behçet's disease was considered 10 months after the first episode when the patient developed oral ulcers followed by pseudofolliculitis of the scalp. The disease recurred several times despite treatment with prednisone, colchicine and antiaggregant drugs. CONCLUSION: Recurrent aseptic meningitis is a classic manifestation of neurological Behçet's disease. It usually appears 2 months to 27 years after the first extraneurological signs and not, as in this case, several months before.
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