Rett syndrome (RS), a neurodevelopment disorder is almost exclusively seen in girls. Diagnosis is essentially clinical and is based on characteristic clinical features. Though a genetically inherited disorder, environmental factors like fever can tritgger the onset of this syndrome in genetically predisposed subjects(1). We present a 4 year old female child who was developmentally normal till 17 months of age, when after an episode of bronchopneumonia she developed features typical of Rett syndrome.

The parents noticed gradual regression of her speech and useful hand movements. The child also developed sterotypic midline hands and lip movements simulating air blowing. Speech and purposeful hadn movements were completely lost in 6-8 months. Meaningful play regressed over one-year. Hearing, vision and sleep remained normal. There was no history of seizures prior and during the course of illness. She could still walk but was unable to run/climb stairs. She also has unprovoked bouts of laughter. During examination she spontaneously hyperventilated twice for about 30-40 seconds and had reflex generalized flexor myoclonus to sudden loud sound. Her eye contact and response to pain was very poor. Spontaneous walking and picking things was normal. She did not pay any attention to toys in the playroom and did not obey any command. Tone and deep tendon reflexes were normal. Fingers in both hands were small and tapering. Rest of the examination, including fundi was normal. EEG/ECG and CT scan did not reveal any abnormality. Chromosomal analysis was not carried out.

This child had characteristics features of Rett syndrome including the age at onset, loss of communication and acquired hand skills, stereotypic hand wringing and washing movements. All her milestones virtually regressed over one year after an episode of bronchopneumonia. Environmental factors like fever has been reported to trigger the onset of RS in genetically predisposed subjects, though there are hardly any reports in the literature. Seizures are one of the supportive criteria but these are overestimated. Non-seizure events like twitching/jerking/head turning/trembling/bruxism/staring/laughing/pupillary dilatation/breath holding and hyperventilation are usually confused with seizures(2). Role of video EEG is very important for diagnosis and to avoid the overprescription and adverse effects of antiepileptic drugs. Myoclonus although reported has not been characterized. Children with RS are prone to sudden death. Prolonged QT interval/low heart rate/hyperventilation and breath holding spells are important components of this syndrome.

Treatment is symptomatic. For seizures lamotrigine is better. Beside seizure control, it improves concentration(3). Children with Rett syndrome have low levels of L-carnitine and vitamin E. These two agents have promising role in the management of Rett syndrome(4). We also prescribed vitamin E and carnitine for four months but the child did not show any improvement. Subsequently the child was put on lamotrigine. After two months her social interaction, visual contact and language improved, but there was no change in her stereotypic hand movements. After six month of treatment she showed significant improvement in her social behavior.

K. S. Rana,
M.N.G. Nair,
Department of Pediatrics,
Armed Forces Medical College,
Pune 411 040, India.
E-mail: [email protected]