Dr Ira Shah
MD, DCH (Gold Medalist), FCPS, DNB

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 1-½ years of age, however, patient developed secondary enuresis at 2 years of age and lost speech at 2 ½ 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 ß 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 a neurological disorder that affects only girls leading to cortical atrophy, stereotyped hand movements, dementia and extrapyramidal dysfunction. The genetic abnormality is a Functional disomy leading to Xp Chromosome – [X – autosomal translocation]. The disease has a clinical pattern which as given below:

CLINICAL STAGES IN RETT’S SYNDROME

I) Early Onset Stagnation Stage (6 To 18 Months)

1. Developmental arrest.
2. Loss of communication.
3. Diminished play interest.
4. Deceleration of head growth.

II) Rapid Destructive Stage (1 To 4 Years)

1. Rapid developmental deterioration
2. Stereotyped hand movements
3. Severe dementia with autistic features
4. Ataxic gait
5. Hyperventilation
6. Seizures

III) Pseudostationary Stage (Preschool To Early School Years)

1. Mental retardation.
2. Autistic features are less prominent
3. Variable motor dysfunction
4. Prominent ataxia
5. Seizures

IV) Late Motor Deterioration Stage (5 To 15 Years)

1. Decreasing mobility
2. Spasticity
3. “Improved” emotional contact
4. Seizures less problematic
5. Growth retardation
6. Staring gaze.

EEG shows inactive, waking record and marked paroxysmal activity during sleep and CT scan of the brain shows cortical atrophy. Most of the children survive upto adulthood.

Last Updated on 01-05-2005