Cerebrotendinous xanthomatosis; a genetic condition: Clinical profile of three patients from a rural Indian family and review of literature |
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| Affiliation: | 1. Kailash Hospital, Jewar, Gautam Buddha Nagar, India;2. Ex-Assistant Professor, Department of Orthopaedics, BRD Medical College, Gorakhpur, India;3. Associate Professor, Department of Orthopaedics, BRD Medical College, Gorakhpur, India;1. Assistant Professor, Department of Anaesthesiology & Critical Care, Pt. B.D. Sharma PGIMS, Rohtak, Haryana, India;2. Senior Professor, Department of Orthopaedic Surgery, Paraplegia & Rehabilitation, Pt. B.D. Sharma PGIMS, Rohtak, Haryana, India;3. Ex-Resident, Department of Orthopaedic Surgery, Paraplegia & Rehabilitation, Pt. B.D. Sharma PGIMS, Rohtak, Haryana, India;4. Senior Professor, Department of Radiology, Pt. B.D. Sharma PGIMS, Rohtak, Haryana, India;5. Resident, Department of Orthopaedic Surgery, Paraplegia & Rehabilitation, Pt. B.D. Sharma PGIMS, Rohtak, Haryana, India;1. Department of Emergency Medicine, Shohadaye Tajrish Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran;2. Department of Physiology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran;3. Department of Medicine, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran;4. Sina Trauma and Surgery Research Center, Tehran University of Medical Sciences, Tehran, Iran;5. Emergency Medicine Department, Rasoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran;6. Emergency Medicine Research Team, Tabriz University of Medical Sciences, Tabriz, Iran;7. Emergency Medicine Department, Urmia University of Medical Sciences, Urmia, IR, Iran;8. Department of Intensive Care Nursing, School of Nursing and Midwifery, Tehran University of Medical Sciences, Tehran, Iran;9. Department of Emergency Medicine, School of Medicine, Bushehr University of Medical Sciences, Bushehr, Iran;10. Department of Epidemiology and Biostatistics, School of Public Health, Tehran University of Medical Sciences, Tehran, Iran;1. Senior Resident, Department of Orthopaedics, AIIMS, Delhi, India;2. Senior Resident, Department of Orthopedics, University College of Medical Sciences, University of Delhi and GTB Hospital Delhi, India;3. Professor, Department of Orthopedics, University College of Medical Sciences, University of Delhi and GTB Hospital Delhi, India |
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| Abstract: | IntroductionCerebrotendinous xanthomatosis is a rare lipid storage disease characterized by infantile onset diarrhea, cataract, tendon xanthomas, and progressive neurologic dysfunction. Cerebrotendinous xanthomatosis is exceptionally rare in Indian population with only few case reports till now.Case reportAn 18-year-old male presented to orthopedic outpatients clinic with complaints of insidious onset swelling of both achilles over last 3 years, with history of learning and visual difficulties. On examination, there were firm nontender swellings along the course of both tendoachillis. Plantar response was extensor and Romberg test was positive with eyes closed. Cranial MRI showed diffuse cerebral and cerebellar atrophy. Family history showed history of diarrhea, mental retardation, and visual difficulties in his two younger siblings. They were also called upon and evaluated clinically. All three were diagnosed as having cerebrotendinous xanthomatosis based on clinical and radiological features.ConclusionCerebrotendinous xanthomatosis is a progressive and preventable disorder and it benefits from therapy, so early diagnosis is mandatory to prevent significant morbidity and mortality associated with this disease. |
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| Keywords: | Cerebrotendinous xanthomatosis Cataract Cholestanol Infantile diarrhea Achilles |
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