Zespół duplikacji MECP2 - opis przypadku

Microdeletion/microduplication syndromes belong to a group of disorders of chromosomal aberrations, so-called adjacent genes whose detection requires the use of molecular cytogenetic techniques (FISH, MLPA, aCGH). MECP2 duplication syndrome is clinically characterized by psychomotor retardation, minor dysmorphic facial features, hypotonia in infancy and increasing spasticity later in life. Among the other symptoms, autistic traits, disorders of speech development, epilepsy, recurrent infections, gastro-oesophageal reflux and constipations have been reported. The authors present the case of a 4-year-old boy with MECP2 duplication syndrome diagnosed due to the delay psychomotor development and muscle hypotonia. Due to the clinical features and de/dysmyelination changes in MRI inborn errors of metabolism, including mutations in the gene SCO2, was excluded. Diagnosis of proband was estimated on the result of aCGH studies, which concluded duplication of Xq28 region covering the gene MECP2. The authors emphasize that in cases of delayed psychomotor development of unclear etiology, with or without dysmorphic features, diagnosis based on aCGH should be considered.