A case of the Rett syndrome.
This is a case report of the Rett syndrome in a girl with normal general and psychomotor development during the first 12 mos. Afterwards developmental stagnation and retrogression appeared which led within one yr to dementia, autism, loss of purposeful hand use, truncal ataxia and apraxia of gait. Characteristic stereotypic movements of the hands occurred, and, furthermore, rhythmic truncal balancing and episodic hyperpnea. At 2 yrs, neurological examination showed slight hypertonia and hyperreflexia of the legs without extensor plantar signs, there was relative microcephaly, and visceral examination was normal. The diagnosis was made on the basis of clinical signs: all laboratory investigations were negative except EEG which showed unspecific modifications. We didn't find hyperammonemia. No progression of the symptoms appeared in the 15 mos following the diagnosis.
D001072:Apraxias / Q000175:diagnosis; D001259:Ataxia / Q000175:diagnosis; D002657:Child Development; D002675:Child, Preschool; D004569:Electroencephalography; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis*; D008831:Microcephaly / Q000175:diagnosis; D019965:Neurocognitive Disorders / Q000175:diagnosis*; D013239:Stereotyped Behavior; D013577:Syndrome