This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Parayil Sankaran Bindu Articles by Pramod Kumar Pal Search for Related Content PubMed PubMed Citation Articles by Parayil Sankaran Bindu, Articles by Pramod Kumar Pal, Social Bookmarking                         What's this?

A Variant Form of Mucolipidosis IV: Report on 4 Patients From the Indian Subcontinent

Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India, drpsbindu{at}yahoo.co.in

Narayanappa Gayathri, PhD

Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India

Thagadur C. Yasha, MD

Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India

Jerry M. E. Kovoor, DNB

Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences, Bangalore, India

Ramakrishnan Subasree, MBBS

Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India

Sudheendra Rao, MBBS

Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India

Samhita Panda, DM

Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India

Pramod Kumar Pal, DM

Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India

The clinical manifestations and histopathologic and neuroimaging findings in 4 Indian patients with a variant form of mucolipidosis IV are described. The presenting symptoms were psychomotor delay, spastic paraplegia, and mild mental retardation. One patient also had visual deterioration due to optic atrophy. None had corneal or retinal abnormalities. Magnetic resonance imaging in 3 patients showed a uniformly thin corpus callosum in all patients and white matter changes in 2 patients. Electron microscopic examination of skin biopsy specimens revealed storage bodies characteristic of mucolipidosis IV. These patients differ from previously described patients with this disorder in the absence of corneal abnormalities and in their presentation with spastic paraplegia during the second decade of life. Correct diagnosis is needed for genetic counseling, prognostication. and reduction of additional familial burden of this rare disease.

Key Words: mucolipidosis IV • spastic paraplegia • lamellar inclusions • corpus callosum

Journal of Child Neurology, Vol. 23, No. 12, 1443-1446 (2008)
DOI: 10.1177/0883073808318537


CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter    What's this?