Annals of Indian Academy of Neurology
SHORT COMMUNICATION
Year
: 2006  |  Volume : 9  |  Issue : 2  |  Page : 110--112

An uncommon presentation of hexosaminidase deficiency


Mary Iype1, Prabhakar Jyothy2, PR Sudhakaran2, Noel Narayanan3, Kunju PAM1 
1 Departments of Pediatric Neurology, Government Medical College, Trivandrum, Kerala - 695 011, India
2 Departments of Pediatrics, Government Medical College, Trivandrum, Kerala - 695 011, India
3 Department of Biochemistry, University of Kerala, Trivandrum, Kerala - 695 011, India

Correspondence Address:
Mary Iype
TC 4/2559 (1), Pattom Kawdiar Road, Kawdiar PO, Trivandrum - 695003
India

Focal muscular atrophy (FMA) can occur due to several causes. We report three cases of FMA associated with deficiency of hexosaminidase A. The serum level of hexosaminidase A was assayed in seven patients with FMA without any definite aetiology identified over a period of two years. Three cases of FMA showed deficiency of hexosaminidase A. All these patients had clinical features of isolated lower motor neurone involvement in one limb without any evidence of involvement of the rest of the neuraxis. Detailed laboratory tests were negative. Electromyography confirmed neurogenic involvement without any evidence of radiculopathy or neuropathy. Hexosaminidase deficiency as a possible association for FMA is highlighted.


How to cite this article:
Iype M, Jyothy P, Sudhakaran P R, Narayanan N, PAM K. An uncommon presentation of hexosaminidase deficiency.Ann Indian Acad Neurol 2006;9:110-112


How to cite this URL:
Iype M, Jyothy P, Sudhakaran P R, Narayanan N, PAM K. An uncommon presentation of hexosaminidase deficiency. Ann Indian Acad Neurol [serial online] 2006 [cited 2020 Oct 25 ];9:110-112
Available from: https://www.annalsofian.org/article.asp?issn=0972-2327;year=2006;volume=9;issue=2;spage=110;epage=112;aulast=Iype;type=0