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54 Chapter 3 major life event, this was initially interpreted as reactive to this incident, resulting in a period of 8 years with relentless cognitive decline. Eventually, her father insisted on referral to a neurologist., Her cognitive function had declined to an IQ of 60 on the Wechsler Adult Intelligence Scale (WAIS)-III. This, in combination with her abnormal neurological examination (hyperreflexia, muscle weakness and ataxia), resulted in an MRI at age 21 suggestive for MLD (Figure 1C). In hindsight, an MRI would have been justified when it became clear that the cognitive deterioration was progressive. HCT was no longer an option. Now, 2 years after diagnosis, she is wheelchair dependent with increasing spasticity and severely affected cognitive function. In her symptom-free brother, the diagnosis of MLD was also confirmed, and he was eligible for HCT. Patient 4 (MLD-2) was already symptomatic at diagnosis at age 27, suffering from delusions and aggressive behavior and disinhibited behavior. As his older brother had been diagnosed with MLD many years earlier, diagnosis was made relatively fast. Because his treating physicians were unaware of HCT as possible treatment for MLD, he was not considered for HCT until one year after diagnosis. Meanwhile his increasing dangerous conduct resulted in compulsory admission to a psychiatric clinic. He was treated with risperidone, pipamperone and valproate. At time of his HCT evaluation, neurological examination showed no major abnormalities, and cognitive function was in the acceptable range (IQ 72, WAIS-III). After HCT, his behavior improved considerably with valproate, lithium and cognitive therapy, allowing him to live at home. He still encounters concentration problems and fatigue. With an IQ of 76 (WAIS-III), 3 years after HCT, his overall cognitive function remained stable. DISCUSSION These cases illustrate that, especially early on in the disease, when motor function is still intact, it is challenging to distinguish MLD from a primary psychiatric disorder as late juvenile and adult MLD patients have an insidious disease onset and often present with psychiatric symptoms. Initial symptoms can be similar to a first presentation of schizophrenia, depression, learning difficulties, ADHD or autism spectrum disorder. 6 Despite the acknowledgement of these types of presentation already in 1975 7 and several case reports since 8 , knowledge about this differential diagnosis is not widespread, although during the last 40 years, we have achieved a much better understanding of pathophysiology and natural history, allowing it to evolve from an untreatable towards a treatable condition. Thanks to HCT, we now have the possibility to greatly alter both quality of life and life expectancy. Awareness of this diagnosis and the current therapeutic options among child and adult psychiatrists is therefore crucial