ABSTRACT
A multicentric study of 15 cases of Rett syndrome selected with the diagnostic criteria according HAG-BERG et al: female sex, normal pre and perinatal period, normal psychomotor development through the first months of life, early dementia between 1-3 years of age with autistic behaviour, loss of acquired purposeful hand skill, "washing hands" stereotypies, normal head circumference at birth with later deceleration of head growth and truncal ataxia with gait apraxia. Waking EEG showed unspecific abnormalities while sleep recording demonstrated extremely frequent multifocal spike and sharp waves mainly over the rolandic region and generalized, and also pseudo-periodic suppression of background activity. In 3 cases the EMG showed a peripheral axonal neuropathy. Only in one case we found hyperammonemia. Karyotypic studies performed in 12 cases demonstrated non specific fragile sites. CT scan was normal in almost all cases. The QD was extremely low.
Subject(s)
Autistic Disorder/diagnosis , Developmental Disabilities/diagnosis , Psychomotor Disorders/diagnosis , Ammonia/blood , Autistic Disorder/blood , Autistic Disorder/physiopathology , Developmental Disabilities/blood , Developmental Disabilities/physiopathology , Diagnosis, Differential , Electroencephalography , Female , Humans , Psychomotor Disorders/blood , Psychomotor Disorders/physiopathology , Sleep Apnea Syndromes/physiopathology , SyndromeSubject(s)
Chromosome Aberrations/genetics , Keratosis/genetics , Pigmentation Disorders/genetics , Adult , Chromosome Disorders , Humans , Male , SyndromeABSTRACT
Banding patterns allow identification of chromosome 22 admitting today trisomy 22 without doubt. A case of this chromosomic aberration is presented. Particular characteristic of the case is the existence of Gp+ chromosome in the mother, two of her brothers and two later brothers of the "probandus". This variation is not discussed as origin of the trisomy.
