Dr Ira Shah.
Consultant Pediatrician, Pediatric Oncall, Mumbai, India. | | | Dr Ira Shah, 1/B Saguna, 271/B St. Francis Road, Vile Parle (W), Mumbai 400056. | | | | Abstract | | Rett syndrome is a neurodevelopmental disorder that is classified as a pervasive developmental disorder by the DSM-IV. It almost exclusively affects girls. We present a child with Rett syndrome. | | | | Introduction | | Rett syndrome is a neurological disorder that affects only girls leading to cortical atrophy, stereotyped hand movements, dementia and extrapyramidal dysfunction (1). The genetic abnormality is a Functional disomy leading to Xp Chromosome (X - autosomal translocation) (2). The clinical features include a deceleration of the rate of head growth and small hands and feet. Stereotypic, repetitive hand movements such as mouthing or wringing, cognitive impairment and problems with socialization are also noted (3). We present a 3 years old girl with typical hand wringing movements suggestive of Rett syndrome. | | | | Case Report | | A 3-year-old girl born of non-consanguineous marriage presented with neuroregression, aggressive behavior and involuntary movements of hands since 1 year. She had normal milestones up to 1-1/2 years of age, however, patient developed secondary enuresis at 2 years of age and lost speech at 2 1/2 yrs. There was no history of seizures or hyperventilation. On examination, she had hypotonia, hand wringing movements and autistic behavior. There was no ataxia. Her systemic examination was normal. Thus on the basis of clinical presentation, she was diagnosed as Rett syndrome. Her MRI brain revealed diffuse cerebral atrophy, which was predominantly cortical, suggestive of Rett syndrome or Neuronal Ceroid Lipofuscinosis (NCF). Since her fundus was normal and there was no retinitis pigmentosa, NCF was ruled out. Her EEG showed abnormal interictal natural sleep record and her social quotient was very low (SQ = 13). In order to rule out GM1 and GM2, her galactosidase and Hexosaminidase A & B enzymes were done which were normal and EMG was also normal. Thus she was diagnosed as a case of Rett syndrome in rapid destructive phase. | | | | Discussion | | Rett syndrome is characterised by developmental arrest, loss of communication, diminished play interest, deceleration of head growth from 6 to 18 months of age; stereotyped hand movements, severe dementia with autistic features, ataxic gait, hyperventilation and seizures from 1-4 years of age. Early school years are characterised by mental retardation, lesser autistic features. By 5-15 years, the child develops decreased mobility, spasticity, growth retardation and staring gaze (3). EEG shows inactive, waking record and marked paroxysmal activity during sleep and CT scan of the brain shows cortical atrophy (4). Most of the children survive up to adulthood. (2) | | | | Compliance with Ethical Standards | | Funding None | | | | Conflict of Interest None | | |
- Percy AK, Lane JB. Rett syndrome: clinical and molecular update. Current Opin Pediatr. 2004; 16: 670-677. [CrossRef]
- Scriver, Charles R; The metabolic & molecular bases of inherited disease; 8th ed.; New York : McGraw-Hill, c2001. p6329-6338.
- Weaving LS, Ellaway CJ, Gecz J, Christodoulou J. Rett syndrome: clinical review and genetic update. J Med Genet. 2005; 42: 1-7. [CrossRef] [PMC free article]
- Glaze DG, Schultz RJ, Frost JD. Rett syndrome: characterization of seizures versus non-seizures. Electroencephalogr Clin Neurophysiol. 1998; 106: 7983. [CrossRef]
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| Cite this article as: | | Shah I. RETT SYNDROME. Pediatr Oncall J. 2005;3: 49. |
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