Atypical Rett syndrome
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[MIM 300 672, 312 750, 613 454]
(FOXG1, syndrome Rett-like syndrome)
Prevalence 1/45.000. X-linked or autosomal dominant transmission. This encephalopathy mostly affects girls.
Several forms:
- form with early seizures (Hanefeld type): mutation of the CDKL5 gene (Xp22)
- congenital form (Rolando type); mutation of the FOXG1 gene (14q11-q13); retardation of overall development without regression, hypotonia, abnormal movements (dystonia, myoclonus), gastroesophageal reflux, microcephaly, abnormal corpus callosum and delayed myelinisation at MRI; in case of 14q12 deletion, a facial dysmorphism is associated.
- form with preservation of speech (Zappela type): mutation of the MECP2 gene (Xq28) as in the classic form.
The clinical presentation is very variable.
Diagnostic criteria of Rett-like syndrome A period of regression followed by a phase of recovery or stabilization is necessary and the presence of at least 2 of 4 major criterias 5 of 11 accessory criterias Major criteria - partial or complete loss of voluntary use of hands - partial or complete loss of speech - walking disorders: unstable or absent walking ability - characteristic manual stereotypes : pressure/torsion, applause signs, brushing/cleaning of hands Accessory criteria - respiratory dysfunction: episodes of apnea while awake, of intermittent hyperventilation, of respiratory blockade, of forced expectoration of air or saliva - vigil bruxism - sleep disorders - tonus disorders - vasomotor disorders - scoliosis/cyphosis - growth retardation - small hands or feet, hypotrophism - inappropriate laughing or screaming or crying - decreased pain sensitivity - communication through intense gaze Diagnostic criteria of exclusion:
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Anesthetic implications:
epilepsy, variable degree of mental retardation. See Rett syndrome for the respiratory implications. Risk of decreased pain sensitivity.
References :
Updated: May 2018