P70 – 2310: White and grey matter abnormalities in some neurometabolic disorders: A clinico-radiological correlation

Abstract

Objective The aim of this work is to identify the pattern of white and grey matter involvement in some neurometabolic diseases and to evaluate the role of MRI as an investigative modality in inborn errors of metabolism and to document its value in early diagnosis and hence management. Methods This is a descriptive study done among 800 patients suspected of having an inborn error of metabolism and referred to the clinic of inherited metabolic disease at Cairo University Children Hospitals, at the centre of Social and Preventive Medicine. Only fourteen patients were found to have the diagnosis of metabolic disease and abnormal findings on MRI. Results Eleven cases (78.6%) were males, while 3 (21.4%) were females. At presentation, the mean age ± SD of the patients was 4.36±3.775 years, and their ages ranged from 9 months to 17 years. Clinical presentation included positive consanguinity in 9 cases (64.3%), other sibs affected in 5 cases (35.7%). Global developmental delay in 3 cases (21.4%), while developmental regression in 11 cases (78.6%). Four cases (28.5%) were diagnosed as Leigh disease, 4 cases (28.5%) as metachromatic leukodystrophy, 2 cases (14.2%) as Canavan disease, 1 (7.1%) as methylmalonic academia, 1 (7.1%) as Vander Knappe disease, 1 (7.1%) as mucolipidosis, and one (7.1%) as Wilson disease. Conclusion When properly used, MRI pattern recognition approach in conjunction with the other imaging tools can be very useful for separating the complex group of metabolic disorders into more manageable groups. Indeed, sometimes this approach allows a specific diagnosis to be made. Although the pattern of disease in MRI is not often specific, the distribution may suggest a differential diagnosis that may be pursued by increasingly specific enzyme analysis