P05.1 Efficacy and tolerability of miglustat in patients with Niemann – Pick C disease

Abstract

and dysarthria. She had left sided dystonia since 6 years of age. Because of her fatigue she was bound toWheel chair for 4 years. The parents were not consangineous. Her examination revealed that she was cachectic, had total ophthalmoplegia, pitosis, left facial weakness. Tonus was increased on the left extremities, and had rigidity on the left upper extremity, deep tendon reflexes were hypoactive. Muscle strength was 3/5 on lower extremities. Bilateral babinsky was positive. Previously made tests were as follows; brain MRI; showed hyperintensity on basal ganglions especially on putamen and globus pallidus. MRI spectroscopy showed constant lactate peak on thalamus. MELAS; MERRF; NARP mutations were normal. Muscle biopsy was normal, EEG; normal. With the neurological findings she was thought to have MNGIE: BAER revealed bilateral moderate degree sensory-neural deafness, electromyography revealed demyelinating neuropathy on lower extremities, serum lactate level was normal. Thymidine phosphorylase enzyme activity was normal. Since Thymidine phosphorylase was normal she was reassesed and for Coeliac disease anti-tissue transglutaminase IgA (t-TGIgA) and antigliadin IgA and IgG (AGA IgA and IgG) titres were studied and found to be high. Small intestine biopsy revealed gluten-sensitive enteropathy stage III and she was diagnosed as Coeliac disease. After gluten-free diet her neurological findings improved. We presented this case to show the broad spectrum of neurologic findings in Coeliac Disease.