Biomedical subjects

M Azaïs

Publications and source records attributed to M Azaïs.

3 recordsLinked to original sources

PubMed1999

Recurrent episodes of coma: an unusual phenotype of familial hemiplegic migraine with linkage to chromosome 1.

Over a period of ten years, a boy had several episodes of coma, lasting three to five days. Each episode was preceded by hemiparesis or paresthesias, aphasia, headaches and behavioural changes, with subsequent loss of consciousness. Partial seizures occurred during the first episode. A history of migraine or hemiplegic migraine was found in several members of the family. Linkage to chromosome 1q21-23, where a gene for familial hemiplegic migraine has been mapped, was shown in this family.

Child↗

PubMed1996

[Schizencephaly and upper limb malformation].

BACKGROUND: Schizencephaly, a failure of the cerebral mantle to form is usually unilateral and not associated with anomalies of the controlateral limbs. We present two cases associated with such anomalies. CASE REPORTS: Case no 1. A boy born with a lobster claw deformity in the right arm. His IQ was 60 and he developed generalized seizures at the age of 4 years with spastic diplegia. MRI examination showed unilateral left schizencephaly also lined with pachygyric cortex. Case no 2. A girl was born with a right ectromelic-hand and developed left spastic hemiparesy. Her IQ was normal. She had a generalized seizure at the age of 11 years. MRI showed unilateral right schizencephaly also lined with pachygyric cortex and heterotopic periventricular gray matter. DISCUSSION: Schizencephaly seems to be due to localized ischemia in the periventricular germinal matrix during the 7th week of gestation. The limb deformity could be explained by the same vascular mechanism in the first case but not in the second one since it was homolateral to brain damage. CONCLUSION: Description of further cases is necessary to understand this association. We suggest MRI examination of brain in patients with limb deformity associated with neurological damage.

Abnormalities, Multiple↗

PubMed1989

[Rett syndrome. A report of fifteen cases].

In its typical form, Rett syndrome is characterized by the development, towards the end of the first year of life, of neurologic abnormalities in a formerly healthy girl. Our analysis of 13 observations of "classical" Rett syndrome shows that the most common findings include cognitive regression, autistic behavior, hypotonia, apraxia, and very suggestive stereotyped movements. Two other cases emphasize the problems raised by mild, atypical or incomplete forms. At present, there is no biological or morphological marker for this syndrome whose pathophysiology is unknown. Increased levels of beta-endorphins in the cerebrospinal fluid may prove to be a marker and suggests therapeutic possibilities.

Biomarkers↗