Ira Shah
Consultant Pediatrician , Mumbai

Address for Correspondence: Dr Ira Shah, 1/B Saguna, 271/B St. Francis Road, Vile Parle (W), Mumbai 400056.

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 upto 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's syndrome. Her MRI brain revealed diffuse cerebral atrophy, which was predominantly cortical, suggestive of Rett's 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 Hexaminidase A & B enzymes were done which were normal and EMG was also normal. Thus she was diagnosed as a case of Rett's syndrome in the rapid destructive phase.

Rett's 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 upto adulthood. (2)