• Users Online: 254
  • Print this page
  • Email this page


 
  Table of Contents  
LETTER TO THE EDITOR
Year : 2016  |  Volume : 7  |  Issue : 4  |  Page : 336-338  

Cerebrotendinous xanthomatosis


Department of Dermatology, Madras Medical College, Chennai, Tamil Nadu, India

Date of Web Publication5-Jul-2016

Correspondence Address:
Mahalakshmi Muniaswamy
Shivdharshan Bhavan, Near Ambal School, Tuticorin Dist, Vilathikulam - 628 907, Tamil Nadu
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2229-5178.185484

Rights and Permissions

How to cite this article:
Muniaswamy M, Rengasamy M, Aravamuthan R, Krishnasamy M. Cerebrotendinous xanthomatosis. Indian Dermatol Online J 2016;7:336-8

How to cite this URL:
Muniaswamy M, Rengasamy M, Aravamuthan R, Krishnasamy M. Cerebrotendinous xanthomatosis. Indian Dermatol Online J [serial online] 2016 [cited 2020 Oct 28];7:336-8. Available from: https://www.idoj.in/text.asp?2016/7/4/336/185484

Sir,

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: Dermatological examination:.- (a and b) 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 ankles, attached to tendoachilles; (c) plain lateral radiographs of both ankles shows soft tissue swellings over posterior aspect of both ankles without any signs of calcification (arrows)

Click here to view


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: (a) MRI image of the brain shows hyperintensities in middle cerebellar region suggestive of cholesterol deposits. (b) Histopathology of thelesion with H and E stain x10 magnification shows collection of foamy histiocytes, numerous cholesterol clefts (arrows) surrounded by foreign body type of multinucleated giant cells in a background of stromal fibroblastic proliferation, consistent with tendon xanthoma. (c) Histopathology of thelesion with H and E stain x40 magnification shows collection of foamy histiocytes, numerous cholesterol clefts surrounded by foreign body type of multinucleated giant cells (arrows) in a background of stromal fibroblastic proliferation consistent with tendon xanthomas

Click here to view


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.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
   References Top

1.
Karandikar AA, Pushparajan S, Unni MN, Srinivas R. Case report: Cerebrotendinous xanthomatosis. Indian J Radiol Imaging2009;19:314-7.  Back to cited text no. 1
[PUBMED]  Medknow Journal  
2.
Bjorkhem I, Hansson M. Cerebrotendinous xanthomatosis: An inborn error of bile acid synthesis with defined mutation but still a challenge. Biochem Biophys Res Commun 2010;396:46-9.  Back to cited text no. 2
    
3.
Lorincz MT, Rainier S, Thomas D, Fink JK. Cerebrotendinous xanthomatosis: Possible higher prevalence than previously recognized. Arch Neurol 2005;62:1459-63.  Back to cited text no. 3
    
4.
Setoguchi T, Salen G, Tint GS, Mosbach EH.A biochemical abnormality in cerebrotendinous xanthomatosis. Impairment of bile acid synthesis associated with incomplete degradation of the cholesterol side chain. J Clin Invest 1974;53:1393-401.  Back to cited text no. 4
    
5.
CruysbergJR, Wevers RA, van Engelen BG, Pinckers A, van Spreeken A, Tolboom JJ. Ocular and systemic manifestations of cerebrotendinous xanthomatosis. Am J Ophthalmol 1995;120:597-604.  Back to cited text no. 5
    
6.
Lee Y, Lin PY, Chiu NM, Chang WN, Wen JK. Cerebrotendinous xanthomatosis with psychiatric disorders: Report of three siblings and literature review. Chang Gung Med J 2002;25:334-40.  Back to cited text no. 6
    
7.
Sastri VR, Ravindranth VS, Metikala S, Kumar M. Bilateral xanthomas of tendoachilles in a patient of cerebrotendinous xanthomatosis: A rare case report and review of literature. J Orthop Case Report 2014;4:40-3.  Back to cited text no. 7
    


    Figures

  [Figure 1], [Figure 2]



 

Top
 
 
  Search
 
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
    Access Statistics
    Email Alert *
    Add to My List *
* Registration required (free)  

 
  In this article
    References
    Article Figures

 Article Access Statistics
    Viewed1023    
    Printed8    
    Emailed0    
    PDF Downloaded182    
    Comments [Add]    

Recommend this journal