braghmandita widya indraswari
Departemen Ilmu Kesehatan Anak FKKMK UGMRSUP Dr Sardjito Yogyakarta
Background : Rett syndrome is a neurodevelopmental disorder which is caused by mutation in MECP2 gene and affected mostly in female. The clinical characteristics are regression of developmental milestone started from 6-48 months, decrease social interaction skills and acquired microcephaly. It is also associate with intellectual disability. This condition frequently misdiagnosed as autism, cerebral palsy, other or non-specific developmental delay.
Case Presentation Summary : A 2-year old girl came to our outpatient clinic with her mother complain of gradual loss of hand skill and social contact. Previously this girl was born spontaneously with normal birth weight , normocephaly and she developed normally till 18 months of age. The next 6 months, she gradually loss her ability in purposeful hand skill, social interaction and communication, receptive and expressive language milestone. She lost her ability to grasp and holding object. Teeth grinding was also reported. She develops typical hand movement and broad-based gait. Abnormality of the electroencephalogram was epileptiform finding without any clinical seizure. Growth failure was occurred indicated by acquired microcephaly and stunted.
Learning Points/Discussion : Rett syndrome is a rare neurodevelopmental condition which could be diagnosed clinically. However genetic analysis or gene mapping is endorsed to be done. It is important for pediatrician to be aware of this condition to give appropriate guidance for parents in managing this patients
Keywords: Rett syndrome neurodevelopment disorder rare disorder
Disclaimer: The Views and opinions expressed in the articles are of the authors and not of the journal.
Mid City Hospital, 3-A Shadman II
Jail Road, Lahore ,Pakistan