Indian Dermatology Online Journal

: 2016  |  Volume : 7  |  Issue : 4  |  Page : 336--338

Cerebrotendinous xanthomatosis

Mahalakshmi Muniaswamy, Madhu Rengasamy, Ramesh Aravamuthan, Manoharan Krishnasamy 
 Department of Dermatology, Madras Medical College, Chennai, Tamil Nadu, India

Correspondence Address:
Mahalakshmi Muniaswamy
Shivdharshan Bhavan, Near Ambal School, Tuticorin Dist, Vilathikulam - 628 907, Tamil Nadu

How to cite this article:
Muniaswamy M, Rengasamy M, Aravamuthan R, Krishnasamy M. Cerebrotendinous xanthomatosis.Indian Dermatol Online J 2016;7:336-338

How to cite this URL:
Muniaswamy M, Rengasamy M, Aravamuthan R, Krishnasamy M. Cerebrotendinous xanthomatosis. Indian Dermatol Online J [serial online] 2016 [cited 2021 Dec 4 ];7:336-338
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Cerebrotendinous xanthomatosis (CTX), a rare autosomal recessive inborn error of bile acid metabolism that may present with swollen tendoachilles on one or both sides. Herein we report a case of CTX in a female who had juvenile cataract, mental retardation and bilateral tendoachilles xanthomas.

A 27-year-old female with subnormal mentation presented with asymptomatic, progressively increasing swellings over both ankles since 4 years. The patient was initially seen at the orthopedics and plastic surgery departments where provisional diagnosis of osteochondroma was considered and further dermatologist opinion was sought. She had been operated in the childhood for bilateral cataracts. She also had a history of poor scholastic performance.

The patient was the youngest of four siblings of first-degree consanguineous marriage. The first sibling was stillborn. The second sibling died on the 2nd day, cause not known. The third sibling is alive and healthy. On examination she was short statured and anemic. Dermatological examination revealed multiple, firm to hard, mobile from side to side, non-tender swellings of size varying from 6 × 4 cm to 3 × 3 cm present over posterior aspect of both lower legs attached to tendoachilles [Figure 1]a and [Figure 1]b.{Figure 1}

Provisional diagnosis of CTX was made based on the presence of tendon xanthomas along with cataracts and mental retardation.

Blood investigations revealed normal serum cholesterol and triglycerides. Blood cholestanol levels could not be obtained due to nonavailability of the test. Plain lateral radiographs of the ankles revealed soft tissue opacities without any signs of calcification[Figure 1]c. Magnetic resonance imaging of brain revealed bilateral middle cerebellar hyperintensities [Figure 2]a. Histopathology was consistent with tendon xanthomas [Figure 2]b and [Figure 2]c.{Figure 2}

In view of the typical clinical, radiological and histopathological features, diagnosis of CTX was confirmed and the patient was started on chenodeoxycholic acid 15mg/kg/day orally in three divided doses.

CTX is an autosomal recessive inborn error of bile acid metabolism due to the mutation in the CYP27A1 gene located on chromosome 2q33 leading to increased deposition of cholestanol in various tissues. Since Bogaert's first report [1] in 1937 of a case of CTX, more than several hundred cases have been reported worldwide [2] The prevalence of this disease has been estimated to be <5/100,000 population.[3]

The mean age at onset of symptoms in patients with CTX is 19 years, but the average age at the time of diagnosis is 35 years, thus representing a diagnostic delay.[4] Intractable infantile onset diarrhea and psychomotor retardation are common clinical features. Childhood-onset cataract is a typical sign of CTX [5] that precedes neurological signs and tendon xanthoma. Neurological features of CTX range from intellectual disability, dementia, psychiatric disturbances, and if not treated, progressive ataxia and death.[6]

Tendon xanthomas is an important clinical hallmark of CTX. Xanthomas are rarely seen before the second decade. Our case also had a history of tendon xanthomas arising in the 2nd decade. They are usually seen on the achilles tendons but may also be found on the patella, elbow, hand, neck tendons and also in the parenchyma of the lungs and brain as well as in the bones. If tendon xanthomas are not present, a diagnosis of CTX cannot be made unless biochemical tests are performed.[7]

Although the average age of diagnosis of CTX is 35 years, fortunately our patient has been diagnosed at the age of 27 years and started on chenodeoxycholic acid before the development of severe neurological disabilities.

Among the different causes of tendoachilles swellings, CTX, although rare, is a medically treatable condition. It is indeed important to have a multidisciplinary approach at the earliest, where the dermatologists play a pivotal role in confirmation of the diagnosis followed by treatment with chenodeoxycholic acid, which not only prevents the catastrophic complications but may even reverse the disease manifestations.

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Conflicts of interest

There are no conflicts of interest.


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