Cerebrotendinous Xanthomatosis Unmasked by Cutaneous Xanthogranuloma: A Clinicopathological Case Report: A Rare Case Report

Dr. Chaitrali P Bhattad, Dr. Sadhana H Khaparde, Dr. Shaila C Puranik, Dr Baba Shinde, Dr. Neha S Rajput

Abstract: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by defective bile acid synthesis, leading to accumulation of cholestanol in multiple tissues. We report a case of a 29-year-old male with intellectual disability and long-standing seizures who presented with multiple painless tendon and cutaneous swellings. Histopathological examination of an excised cutaneous nodule revealed sheets of foamy macrophages, Touton-type giant cells, and cholesterol clefts, suggestive of xanthogranulomatous pathology. Subsequent clinicoradiological correlation demonstrated diffuse cerebral and cerebellar atrophy with chronic white-matter ischemic changes on MRI, along with a history of juvenile cataract, delayed milestones, neonatal jaundice, and chronic diarrhea. Routine lipid profile was within normal limits, excluding common hyperlipidemic xanthomatoses. Based on the characteristic clinical, radiological, and histopathological features, a diagnosis of cerebrotendinous xanthomatosis was established. This case highlights the critical role of pathological vigilance and multidisciplinary evaluation in diagnosing this rare yet treatable metabolic disorder.

Keywords: Cerebrotendinous xanthomatosis, tendon xanthoma, foamy macrophages, Touton giant cells

How to Cite?: Dr. Chaitrali P Bhattad, Dr. Sadhana H Khaparde, Dr. Shaila C Puranik, Dr Baba Shinde, Dr. Neha S Rajput, "Cerebrotendinous Xanthomatosis Unmasked by Cutaneous Xanthogranuloma: A Clinicopathological Case Report: A Rare Case Report", Volume 14 Issue 12, December 2025, International Journal of Science and Research (IJSR), Pages: 2252-2254, https://www.ijsr.net/getabstract.php?paperid=SR251226215635, DOI: https://dx.doi.org/10.21275/SR251226215635