14800-DvRappard

55 Slowly progressive psychiatric symptoms: think metachromatic leukodystrophy 3 to allow for correct and early patient identification and to avoid other potential pitfalls as deferral in testing (asymptomatic) siblings of already diagnosed patients and delay in referral to specialized centers. There are clues to this diagnosis. All our cases had typical initial development, followed by a period of regression, first insidious, then overt. Concretely, the combination of an initially typically developing child with a clear change of behavior together with (in the beginning mild) cognitive deterioration should prompt diagnostic evaluation for neurometabolic disorders. 9 This should include both neurological examination and brain MRI. Psychiatric and neurological symptoms together are even more suggestive of a degenerative disorder and warrant prompt referral to a neurologist. Though a discrepancy between verbal and performance IQ is also seen in other conditions, its combination with the afore mentioned symptoms is especially suspect. The patients for whom HCT was no longer a possibility illustrate how crucial it is to be aware of this diagnosis and to properly identify patients who are likely to present first to psychiatrists and psychologists. Siblings of a patient (including older ones) should always be tested, making presymptomatic treatment possible. For patients who are no longer candidates for HCT, correct diagnosis is also essential to provide appropriate treatment and genetic counselling.