Macrocephaly is seen in which of the following syndromes ?
Correct Answer: Canavan's disease
Description: LEUCO J ITS TROPHY
Leucodystrophy refers to progressive degeneration of the white matter of the brain clue to imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibre.
Myelin which lends its color to the white matter of the brain, is a complex substance made up of at least ten different chemicals.
The leucodystrophy are a group of disorders that are caused by genetic defects in hoW myelin produces or metabolizes these chemicals.
Each of the leucodystrophies in the result of a defect in the gene that controls one (and only one) of the chemicals. Specific leusodystrophies include -
Metachroinatic leucodystrophy ❑ Adrenoleucodystrophy
❑ Canavan disease
Krabbe's disease ❑ Pelizaeus-Merzhacher disease ❑ Alexander disease
Symptoms vary according to the specific type of leucodystrophy and may be difficult to recognize in the early stages of the disease.
Canavan's disease
Autosomal recessive disorder
Caused due to deficiency of the enzyme N-Aspertoacylase.
This leads to accumulation of N-Acetyl aspartic acid in brain and urine.
It is characterized by the clinical traid of --> Hypotonia, Head lag, Macrocephaly
Adrenoleucodvstrophy
X-linked recessive disorder
Caused due to deficiency of AcyI-C'oA synthetase.
Onset is about 5-10 years
Main symptoms are ataxia, spasticity, motor deficits, cortical blindness.
Marocephaly is not a key feature
Metachromatic leucodystrophy
Autosomal recessive disorder
Caused due to Arylsulfatase A deficiency
Onset is in the 2nd year.
Symptoms are into-ordination, especially gait disturbance, then general regression, optic atrophy, combined upper and lower motor neuron signs.
Marocephaly usually late.
Krabbe leucodvstrophy
Autosomal recessive
Caused due to deficiency of Beta-galactosidase deficiency
Onset is in the first 6 months of life
Optic atrophy, spasticity
Head often small
Category:
Pediatrics
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