Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report

Abstract

BackgroundCerebrotendinous xanthomatosis is a very rare autosomal recessive lipid storage disorder affecting bile acid biosynthesis. It is manifested by subtle neurological and non-neurological symptoms due to abnormal tissue lipid deposition. Diagnosis is usually delayed but early diagnosis and replacement therapy can prevent devastating neurological sequelae.Case presentationWe present a case of a 25-year-old Asian Indian woman who presented with gait difficulty, fusiform swellings of bilateral tendo-Achilles and infrapatellar tendons, along with history of bilateral cataract surgery 1 year earlier. The diagnosis was made on the basis of clinical, biochemical, imaging, and histopathological analysis and replacement therapy was started.ConclusionsThe peculiarity of the present case is the absence of any neurological manifestations which are usually the early clues to the diagnosis of cerebrotendinous xanthomatosis. The present case report emphasizes the fact that early age bilateral cataracts along with bilateral tendo-Achilles xanthomas can be early pointers toward the diagnosis of cerebrotendinous xanthomatosis.

Cerebrotendinous Xanthomatosis with Lung Involvement and Acquired Ichthyosis

“…Despite the unavailability of cholestanol dosage and the research of CYP27A1 gene mutation, clinical manifestations in our patient were characteristics of CTX. In fact, in adults, the diagnosis of CTX is based on the presence of two of the following criteria: Intractable infantile diarrhoea, juvenile cataracts, tendon xanthomas, neurological disorders, elevated level of serum cholestanol and characteristics MRI finding of hypersignal on T2 and the Flair in dentate nucleus of the cerebellum and the white matter [4].…”

Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review

“…Under normal circumstances, the 7α-hydroxylation of cholesterol is the rate-controlling reaction for bile acid synthesis, since the activity of CYP7A1 can be regulated by multiple transcriptional mechanisms [2,10,17,21]. Newly formed bile acids are secreted into the lumen of the small intestine, and their influx back to the liver via enterohepatic circulation constitutes an important negative feedback mechanism as they inhibit CYP7A1 activity.…”

“…The disruption of 27-hydroxylase activity may possibly result in undetectable levels for this pathway's metabolites, particularly 27-hydroxycholesterol and CDCA. The decrease in CDCA negative feedback increases by up to 20 times the pathway controlled by 7αhydroxylase, leading to accumulation of its products, such as 7α-hydroxycholesterol, 7αhydroxy-4-cholesten-3-one and 7α,12α-dihydroxy-4-cholesten-3-one, which may serve as auxiliary markers to the follow-up of CTX [1,2,21,39,40,43,50,51]. The levels of 7α-hydroxy-4-cholesten-3-one appear to correlate with the accumulation of cholestanol in the nervous system [52][53][54].…”