| Phenotype details |
see paper; ..., no abnormalities during pregnancy; normal delivery; birth term; profound intellectual disability; developmental delay; motor delay; speech delay, no language acquisition; dysarthria, no language acquisition; epilepsy, epileptic encephalopathy, 7m-first seizure, 19y-pharmacoresistant, multiple absences per day and tonic-clonic seizures ~ 1/month.; EEG hypsarrhythmia; hypotonia; <1y-severe spastic tetraparesis; manual stereotypies; MRI brain global supra- and subtentorial brain atrophy; regression, normal psychomotor and social development up to age 0;6y. From then, social interactions became poorer and poorer with a lot of crying, irritability, apathy and disappearance of smiles. At age 0;7y there seemed to be no more communication. Psychomotor: major regression with return to an almost vegetative state, loss of voluntary mobility and appearance of stereotypic hands movements. Regression coincided onset of seizures. Symptomatology was attributed to epileptic encephalopathy, known molecular causes of Rett-syndrome were excluded.; epilleptoid trepidation of the R lower limb; facial dysmorphisms; enamel fragility; oro-facial and deglutition dyspraxia; no cardiac abnormalities; scoliosis; no hypermobility joints; constipation; no endocrine/metabolic abnormalities; IgG 15.6g/l, IgA 1.71g/l, IgM 2.46g/l, slightly increased but measured during admission for aspiration due to swallowing dyspraxia; normal skin, normal hair, normal nails; no neoplasms; microcephaly during childhood; normal serum alkaline phosphatase levels (102 IU/L; normal range 45-117) |
