title: Cerebrotendinous xanthomatosis: neuroimaging findings in two siblings from an Indian family.
abstract: Cerebrotendinous xanthomatosis (CTX) is exceptionally rare in the Indian population. We present and discuss the clinical, radiological and histopathologic findings in 2 siblings with CTX. Both the patients had juvenile cataract, mental retardation and marked cerebellar ataxia. The Achilles tendon swelling was present in only 1 patient (Case 2). MR imaging showed typical bilateral and symmetrical involvement of the dentate nuclei, inferior olives, brainstem and cerebellar hemispheric white matter. Although the diagnosis of CTX was made in the 3rd decade in both our cases, early diagnosis is possible if neuroimaging is done in the early course of the disease.
authors.affiliation: Department of Neuroradiology, Neurosciences Center, All India Institute of Medical Sciences, Ansari Nagar, New Delhi - 110029. sgaikwad_63@yahoo.com
authors.forename: S B
authors.initials: SB
authors.lastname: Gaikwad
authors.forename: A
authors.initials: A
authors.lastname: Garg
authors.forename: N K
authors.initials: NK
authors.lastname: Mishra
authors.forename: V
authors.initials: V
authors.lastname: Gupta
authors.forename: A
authors.initials: A
authors.lastname: Srivastava
authors.forename: C
authors.initials: C
authors.lastname: Sarkar
mesh_terms: D000328:Adult; D005192:Family Health; D005260:Female; D006801:Humans; D007194:India; D008279:Magnetic Resonance Imaging; D008297:Male; D035781:Siblings; D014057:Tomography, X-Ray Computed; D019294:Xanthomatosis, Cerebrotendinous / Q000473:pathology*