A Rare Cause of Fatty Liver and Elevated Aminotransferase Levels: Chanarin-Dorfman Syndrome: A Case Report

Chanarin-Dorfman syndrome is a rare, inherited metabolic disorder of neutral lipid storage characterized by ichthyosis, lipid vacuoles in leukocytes, and involvement of several internal organs, mostly the liver. Since the initial case was reported by Dorfman in 1974, nearly 50 cases have been reported, and the majority were from Middle East countries. Here, we report a 20-year-old patient with ichthyosis from Turkey, diagnosed as Chanarin-Dorfman syndrome presented with asypmtomatic elevated transaminases and hepatosteatosis, and also briefly review the updated clinical implications and management of this rarely seen syndrome. Prompt diagnosis of this syndrome avoids further unnecessary investigations in patients with ichthyosi

Central and Peripheral Neurological Manifestations of Inflammatory Bowel Disease

OBJECTIVE: The aim of this study is to evaluate the spectrum, frequency and coincidence of central and peripheral neurological involvement in a cohort of patients with inflammatory bowel disease (IBD). METHODS: Thirty consecutive patients, with a biopsy proven diagnosis of IBD (15 Crohn’s Disease, 15 Ulcerative Colitis) were enrolled and were followed for a period of one year. All the patients underwent clinical neurological evaluations, electrodiagnostic examination and neuroimaging. Neuroimaging findings were compared with an age- and sex-matched healthy control group. RESULTS: Among the 25 patients who completed the study, mild peripheral neuropathy was the most commonly encountered neurologic pathology, and included distal symmetrical sensory and sensorimotor polyneuropathy in 12% and mononeuropathy in 16%. Peripheral neuropathy predominantly affected females (p0.05). Seizure disorder and steroid myopathy occurred once each. Concurrent central and peripheral nervous system pathologies were detected in three cases with longer durations of the disease. Two new neurological incidents were observed during the one year follow-up period and included cranial mononeuropathy in one and cerebral venous thrombosis in another. CONCLUSION: Our findings suggest higher vulnerability of the peripheral nerves among women throughout the course of this inflammatory disease. Focal white matter lesions appear unlikely to represent another neurological manifestation of IBD. Larger controlled studies should be conducted prospectively in order to study common etiological pathways and identify the nature of neurological involvement in IB