A two year old girl child is brought to the out patient with features of hand wringing stereotype movements, impaired language and communication development, breath holding spells, poor social skills and deceleration of head growth after 6 months of age. The most likely diagnosis is –
Correct Answer: Rett's syndrome
Description: This 2 years child has following problems.
Hand wringing movements.
Impaired language and communication development.
Breath holding spells
Poor social skills
Decleration of hand growth after 6 months.
Now see the clinical features of Rett syndrome.
a. Age of onset is around 5 months.
Development may proceed normally until 1 yr of age, when regression of language and motor milestones become apparent.
a. Acquired microcephaly (Decleration of head growth due to significantly reduced brain weight).
* Most children develop peculiar sighing respirations with intermittent periods of apnea that may be associated with cyanosis --> Breath holding spells.
The hallmark of Rett syndrome is repetitive hand wringing movements and a loss ofpurposeful and spontaneous use of the hands.
Autistic behavior is a typical finding in all patients.
Generalized tonic-clonic convulsions occur in the majority.
Feeding disorder and poor weight gain are common.
Death occurs in adolescence or in the 3rd decade.
Cardiac arrhythmias may result in sudden, unexpected death.
Clinical features given in question prefectly match with Rett syndrome
Asperger syndrome
Qualitative impairment in the development of reciprocal social interaction.
More common in males
Normal intelligence.
Eccentric interests.
No language impairments that characterize autism.
Children with Asperger syndrome appear to be at high risk for other psychiatric disorder
Category:
Pediatrics
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