PMD leukodystrophy :MRI
Case Report : 5 yr old boy clinically suspected to be having Pelizaeus Merzbacher(PMD) variety of leukodystrophy shows on MRI , a near total absence of expected low signal of myelin on T2 with no Tigroid patches suggesting possibly classical form with diffuse variety of PMD
Teaching points by Dr MGK Murthy
MRI Tech : Mr Kartik
1. Clinically could be suggested by the presence of nystagmus/hypotonia/ pyramidal tract disease with exact aetiology is unknown
2. Two varieties (a) classical (starts late infancy and is X linked ) (b) Connatal , starts at birth or early infancy and can be X linked or Autosomal recessive
3. Basic defect appears to be , deranged proteolipid protein (PLP1), leading to oligodendrocytes maldevelopment and death
4. T2WI is very typical particularly in diffuse variety spreading to involve even the subcortical "U" fibres . Cerebellum and Brainstem amy be involved .
T1WI shows Lack of of bright signal in internal capsule/ corona radiata and optic radiation, due to lack of myelin
5.On histology, few islands of normal myelin interspersed amongst mostly non myelinated regions could be identified in the patchy variety of the disease , and the same is reflected by "TIGROID" stripes on imaging
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