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


METHODS
We 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.


CONCLUSIONS
The 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.
Department of Endocrinology, Lala Lajpat Rai Memorial Medical College, Garh Raod, Meerut, 250004, Uttar Pradesh, India. syedrazi1983@gmail.com.
Syed Mohd
SM
Razi
Department of Endocrinology, Lala Lajpat Rai Memorial Medical College, Garh Raod, Meerut, 250004, Uttar Pradesh, India.
Abhinav Kumar
AK
Gupta
Department of Endocrinology, Lala Lajpat Rai Memorial Medical College, Garh Raod, Meerut, 250004, Uttar Pradesh, India.
Deepak Chand
DC
Gupta
Department of Endocrinology, Lala Lajpat Rai Memorial Medical College, Garh Raod, Meerut, 250004, Uttar Pradesh, India.
Manish
M
Gutch
Department of Endocrinology, Lala Lajpat Rai Memorial Medical College, Garh Raod, Meerut, 250004, Uttar Pradesh, India.
Keshav Kumar
KK
Gupta
Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, 202002, Uttar Pradesh, India.
Syeda Iqra
SI
Usman
D000125:Achilles Tendon / Q000000981:diagnostic imaging*; D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging; D002529:Cerebellar Nuclei / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D011859:Radiography; D035583:Rare Diseases; D014463:Ultrasonography; D019294:Xanthomatosis, Cerebrotendinous / Q000000981:diagnostic imaging* / Q000473:pathology
CYP27A1; Cerebrotendinous xanthomatosis; Chenodeoxycholic acid; Cholestanol; Xanthoma