Case Of the Week (COW) 24 May 2015
CEREBROTENDINOUS XANTHOMATOSIS
Findings
MRI ANKLE- Hypointense with few linear hyperintensities CTBRAIN : Bilateral Symmetrical Hypodensities in Cerebral peduncle, medial thalamus, cerebellar white matter and dentate nucleus MRI BRAIN - Bilateral symmetric T2, FLAIR Hyperintensities in thalamus, cerebral peduncle, periventricular white matter, cerebellar white matter and dentate nucleus . High ADC values and few foci of blooming in gradient.
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.
Contributed By:
Dr. S Babu Peter
Barnard Institute of Radiology
CEREBROTENDINOUS XANTHOMATOSIS
Findings
MRI ANKLE- Hypointense with few linear hyperintensities CTBRAIN : Bilateral Symmetrical Hypodensities in Cerebral peduncle, medial thalamus, cerebellar white matter and dentate nucleus MRI BRAIN - Bilateral symmetric T2, FLAIR Hyperintensities in thalamus, cerebral peduncle, periventricular white matter, cerebellar white matter and dentate nucleus . High ADC values and few foci of blooming in gradient.
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.
Contributed By:
Dr. S Babu Peter
Barnard Institute of Radiology