Presentation on theme: "AN INTERESTING CAUSE FOR ATAXIA ID NO: 1194. 33 year old male patient, 1 st child of non consanguinous marriage c/o progressive unsteadiness while walking."— Presentation transcript:
33 year old male patient, 1 st child of non consanguinous marriage c/o progressive unsteadiness while walking and frequent falls – from 10years of age H/o slurring of speech. H/o swelling over both ankle. No H/o seizure/sensory disturbance. No similar illness in the family.
Clinical examination: -Cerebellar signs +, -B/L immature cataract, -swelling over both achilles tendon, -Generalised wasting of muscles. MMSE: 19/30 Biochemical parameters: LIPID PROFILE: T.Cholesterol -- 147 TGL -- 90 HDL -- 44 COMPLETE HEMOGRAM AND LFT: NORMAL ECHO AND TFT: NORMAL
Thickening and smooth symmetric hypoechoic infiltrationin achilles tendon USG
Enlarged Achilles tendon Hypointense with few linear hyperintensities
CT BRAIN Bilateral Symmetrical Hypodensities in Cerebral peduncle, medial thalamus, cerebellar white matter and dentate nucleus
DISCUSSION The incidence of CTX is estimated to be 3 to 5 per 100,000 people worldwide. Rare autosomal recessive condition caused by a deficiency of the mitochondrial enzyme sterol 27 hydroxylase, which normally catalyses the hydroxylation of cholestanol to bile acids. Molecular genetic analysis has revealed that this disease is associated with a mutation of the CYP 27A2 gene in chromosome 2q33. Its absence results in an accumulation of cholesterol and cholestanol in all tissues, giving rise to tendon xanthomas. These patients present with intractable diarrhea, cataracts, and psychomotor retardation (in infancy/childhood) followed by development of xanthomas after the second decade.
Achilles tendons is classically involved. Quadriceps, triceps, and finger extensor tendons may also be involved. These patients also often present with cerebellar ataxia, spasticity and peripheral neuropathy. Although blood cholesterol levels are normal in patients with CTX, the blood cholestanol levels are characteristically elevated.
IMAGING FEATURES Bilateral symmetric hyperintensity in cerebellar white matter, periventricular white matter, deep grey matter and mild cerebellar atrophy. Microcalcification in dentate nucleus. Enlarged perivascular spaces Tendon xanthoma
Achilles tendon xanthomas are classically hypointense on T1W and T2W images due to the deposition of free cholesterol and cholestanol rather than triglycerides and fatty acids (which are responsible for the normal hyperintense fat signal on T1W images). The MRI may reveal a reticular/speckled appearance due to interspersed areas of slightly high signal intensity, which are presumably due to secondary edema/inflammation.
Diagnosis is based on the typical clinical history and findings, the presence of normal or low cholesterol in association with raised cholestanol levels, and the characteristic MRI appearance. Clinically, CTX resembles the Marinesco-Sjogren syndrome, an autosomal recessive disorder characterized by the triad of cerebellar ataxia, congenital cataract, and mental retardation. The presence of tendon xanthomas helps differentiate CTX from this condition. This differentiation is important as CTX is a treatable condition. THANK YOU