[P2-176] Two Siblings with MECP2 Duplication Syndrome
MECP2 (methyl CpG binding protein 2) duplication syndrome is a severe neurodevelopmental disorder characterized by infantile hypotonia, delayed psychomotor development leading to severe intellectual disability, poor speech development, progressive spasticity, recurrent respiratory infections and seizures. Although the individual phenotypic variability is observed, most of affected males die before age 25 years due to complications of recurrent infection and/or neurologic deterioration. Now more than 200 patients have been described, but the details of MECP2 duplication syndrome is still unknown. We describe two male siblings (20 and 31 years of age) diagnosed as duplicated Xq28 using chromosomal microarray. Both siblings exhibited feeding difficulties from the first weeks of life, hypotonia during the infantile period, and recurrent respiratory infections. Seizures were observed from childhood. Several seizure types occurred: generalized tonic-clonic, focal, myoclonic, atonic, absence, and unclassified. Seizures were refractory to treatment. Motor development was severely delayed and ataxic gait was seen in early childhood. They showed neurologic deterioration, such as loss of verbal understanding and ambulation. They suffered from life-threatening infections, suggesting immunodeficiency including IgA deficiency. Pneumonia was the most frequent infection, their IgA level was seen consistently less than 50mg/dl. We report the immunological examinations of two siblings with MECP2 duplication syndrome.