title: A variant form of mucolipidosis IV: report on 4 patients from the Indian subcontinent.
abstract: 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.
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India. drpsbindu@yahoo.co.in
authors.forename: Parayil Sankaran
authors.initials: PS
authors.lastname: Bindu
authors.forename: Narayanappa
authors.initials: N
authors.lastname: Gayathri
authors.forename: Thagadur C
authors.initials: TC
authors.lastname: Yasha
authors.forename: Jerry M E
authors.initials: JM
authors.lastname: Kovoor
authors.forename: Ramakrishnan
authors.initials: R
authors.lastname: Subasree
authors.forename: Sudheendra
authors.initials: S
authors.lastname: Rao
authors.forename: Samhita
authors.initials: S
authors.lastname: Panda
authors.forename: Pramod Kumar
authors.initials: PK
authors.lastname: Pal
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology*; D004847:Epithelial Cells / Q000473:pathology / Q000648:ultrastructure; D006801:Humans; D007198:Indians, North American; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009081:Mucolipidoses / Q000175:diagnosis*; D013545:Sweat Glands / Q000473:pathology