P83 – 2742: Clinical characteristics of MLD patients admitted to Hacettepe University in one-year period

Abstract

Objective Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disorder caused by deficieny of arylsulfatase A (ARSA), leading to accumulation of sulfatide in myelinating cells and resulting progressive central and peripheral demyelination. Late-infantile, juvenile and adult forms have been distinguished. Clinical presentation shows great variations according to the age of onset. We report seven MLD cases with clinical and radiologic characteristics and we also share unusual presentations of two of them. Methods We collected clinical, radiological and laboratory findings of patients with MLD diagnosed in our center between 2014 and 2015, retrospectively. Results The age at onset of symptoms ranged between 18 months and 6 years. The median age at MLD diagnosis was 5 years (2–8.5 years). Four patients were late-infantile, three were juvenile form of MLD. Three patients had positive family history. Common symptoms in the late-infantile group were loss of developmental milestones, regression of motor skills, difficulty in swallowing. One patient suffered from seizures. Unusual presentation with peripheral neuropathy was observed in a patient. In the juvenile-onset group patients presented with cognitive decline, behavioral problems and gait disturbance. Gallbladder disease was detected in two patients. One of them was referred to our center due to gallbladder polyps without any neurological symptoms. Two patients were ambulatory in admission. All of the patients had low ARSA level and two of them had genetic evaluation for MLD. The brain magnetic resonance imaging results showed typical white matter alterations of MLD except the asymptomatic one. Conclusion Presenting symptoms and clinical course of MLD show remarkable variability among patients. In one-year period, we have seen a wide range of clinical presentations and, we have also experienced unusual clinical findings of MLD.