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In this webinar, Dr. Simon Jones focuses on the early clinical presentation and diagnostic challenges of Metachromatic Leukodystrophy (MLD) in children, using two detailed case studies to illustrate key lessons. MLD is a progressive, inherited neurodegenerative disorder resulting from a deficiency in the enzyme arylsulfatase A, leading to sulfatide accumulation and demyelination in the central and peripheral nervous systems. The disease presents across a spectrum—late infantile, juvenile, and adult forms—with the earlier onset forms showing more rapid progression.
Dr. Jones presents two real-world cases. The first involves a boy who began showing subtle motor abnormalities at 20 months, initially misattributed to flat feet. Due to the COVID-19 pandemic, assessments were delayed and conducted virtually. It wasn’t until face-to-face evaluation that concerning signs—such as increased muscle tone, abnormal gait, and delayed speech—were recognized. MRI findings and biochemical testing confirmed late infantile MLD. Dr. Jones emphasizes how earlier in-person examination could have led to faster diagnosis and the potential for earlier treatment consideration.
The second case describes a seven-year-old girl with initially non-specific developmental concerns—speech delay, poor motor skills, and behavioral issues—progressively worsening over time. Initially labeled with dyspraxia and learning difficulties, the true diagnosis of early juvenile MLD was only considered after further neurological decline and an MRI showing subtle abnormalities. A confirmed enzymatic and genetic diagnosis followed. Dr. Jones underscores how MLD can mimic more common developmental disorders, contributing to diagnostic delay.
The webinar discusses how juvenile MLD cases often present with early behavioral or cognitive changes before clear neurological symptoms emerge. Misdiagnoses such as ADHD, developmental coordination disorder, or even psychiatric conditions are common. Dr. Jones encourages clinicians to maintain a high index of suspicion when faced with regression or a combination of cognitive, behavioral, and motor signs.
The session concludes with a strong message: early neurological examination remains the most effective tool in identifying MLD. Prompt MRI, enzyme testing, and genetic screening are critical for diagnosis—particularly given the availability of potential treatments if identified before significant neurological damage occurs.