Background: Cerebrotendinous xanthomatosis (CTX) 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. Usually, the diagnosis is delayed but early diagnosis and replacement therapy can prevent devastating neurological sequelae.
Objective and hypotheses: To diagnose and manage a case of cerebrotendinous xanthomatosis.
Method: A 15 years old Asian Indian female presented with complaints of swellings behind both the ankles and in front of both the knees for last 2 years. Patient had history of bilateral cataract surgery 1 year back. On examination, patient had firm, non-tender, fusiform swellings over bilateral tendoachilles (Right: 10 cm×4.5 cm, Left: 8 cm×3 cm) and bilateral infra-patellar tendons (Right: 2 cm×1.5 cm, Left: 1.5 cm×1.2 cm). General and systemic examination was unremarkable except bilateral pseudophakic eyes. Her hemogram, renal and hepatic function tests, serum electrolytes and fasting lipid profile were within the normal limits. Serum cholestanol level was 4.27 mg/dl. X-ray both legs revealed soft tissue thickening in bilateral ankle posteriorly and overlying right tibial tuberosity. magnetic resonance imaging (MRI) brain revealed T2 and FLAIR (Fluid-attenuated inversion recovery) hyperintense signals in the region of Dentate nucleus of both the cerebellar hemispheres with high choline and low N-acetylaspartate (NAA)/Creatine peaks on magnetic resonance spectroscopy (MRS). Patient underwent excisional biopsy revealed foamy cells admixed with inflammatory cells and giant cells surrounding cholesterol clefts.
Results: On the basis of above findings the diagnosis of cerebrotendinous xanthomatosis was made and the patient was started on replacement with chenodeoxycholic acid 250 mg three times a day, Ursodeoxycholic acid 300 mg three times a day and Atorvastatin 10 mg at bedtime and patient improved after 1 year follow up.
Conclusion: CTX is a rare lipid storage disorder which is easily misdiagnosed and leads to devastating complications but a timely diagnosis and management can prevent these.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology