Home About us Editorial board Search Ahead of print Current issue Archives Submit article Instructions Subscribe Contacts 303
Year : 2013  |  Volume : 4  |  Issue : 2  |  Page : 113-115

Metachromatic leukodystrophy

1 Department of Psychiatry, Father Muller Medical College, Kankanady, Mangalore, Karnataka, India
2 Department of Radiology, Father Muller Medical College, Kankanady, Mangalore, Karnataka, India

Correspondence Address:
P John Mathai
Department of Psychiatry, Father Muller Medical College, Kankanady, Mangalore - 575 002, Karnataka
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0975-9727.118242

Rights and Permissions

Metachromatic leukodystrophy or Scholz's disease is a rare disorder transmitted as an autosomal recessive trait, leading to demyelination and neurological impairment. An 18-year-old boy was brought to the psychiatry out-patient department with a history of progressive decline of cognitive functions and self-help skills since 8 years. On examination, the patient was alert, easily distractible, and restless with stereotypic movements of the head. He was unable to speak, able to comprehend simple commands but not complex instructions and had an inappropriate affect. EEG revealed frequent intermittent clusters of biphasic spike-slow wave and sharpish discharges arising from bilateral fronto - centro - temporal regions. MRI brain showed non-enhancing altered signal intensity involving bilateral periventricular deep white matter, with a possibility of metachromatic leukodystrophy. Metachromatic leukodystrophy is a progressive demyelinating disorder which may present with cognitive or behavioral symptoms. It may be misdiagnosed as a psychiatric disorder, delaying intervention, leading to unnecessary exposure to neuroleptics and increasing financial burden for the family.

Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded109    
    Comments [Add]    

Recommend this journal