Page 98 - Hospital Authority Convention 2017

Masterclasses
HOSPITAL AUTHORITY CONVENTION 2017

M4.1 Multi-disciplinary Management of 14:30 Convention Hall A
Neurometabolic Disorders

Neurometabolic Diseases: Current Scenario and Hope
Fung CW
Department of Paediatrics and Adolescent Medicine, The Duchess of Kent Children’s Hospital at Sandy Bay, Hong Kong

Neurometabolic diseases were a group of inborn errors of metabolism with neurological involvement. Most of these diseases
were once thought to be untreatable and patients could end up in a neurodegenerative process. In recent years, the field of
neurometabolic diseases has been rapidly expanding:

(1) Advances in understanding the underlying biochemical and molecular mechanisms allowing some “old and non-
metabolic” diseases to be re-classified into inborn errors of metabolism
(2) Novel diseases have been discovered
(3) Atypical and milder phenotypes are reported
(4) The number of potentially treatable neurometabolic diseases is increasing
(5) Novel treatment strategies are either available or under trials

However, diagnosing neurometabolic diseases remain a major challenge to front-line clinicians. Phenotypic overlap does
Tuesday, 16 May screening within a well-defined clinical context remains a useful approach especially targeted for those diseases that are
occur with other non-neurometabolic neurodegenerative or neurogenetic diseases. Use of a panel of laboratory tests for
potentially treatable but may not be picked up through newborn screening. Unfortunately, negative screening does not
rule out neurometabolic diseases. Diagnosis relies on a close collaboration between clinical, radiological and pathology
specialists aiming at:

(6) Precise and accurate clinical phenotyping
(7) Understanding false positivity and false negativity of an individual neurometabolic investigation
(8) Use of one or a battery of biochemical and/or molecular test(s) to make the final diagnosis
Management can be disease-specific especially for those disorders which are potentially treatable. Otherwise, multi-
disciplinary approach would still be universal involving expertise from various allied health professionals and cross-
subspecialties.
Through case illustrations and data from a tertiary referral centre for neurometabolic diseases in Hong Kong West Cluster,
“HOPE” would be the future for our patients.

M4.2 Multi-disciplinary Management of 14:30 Convention Hall A
Neurometabolic Disorders

Imaging Neurometabolic Disease – Piecing Together the Puzzle
Kan E
Department of Radiology, Hong Kong Children’s Hospital, Hong Kong

Diagnosing neurometabolic disease is often challenging. The increasing availability of sophisticated diagnostic methods
including advanced imaging techniques in magnetic resonance imaging, histopathological and molecular genetic
investigational tools and laboratory tests facilitating early and accurate diagnosis have helped to elucidate underlying
pathological processes.
Developing an approach using helpful clues in clinical presentation, appreciation of abnormal myelination, pattern recognition
(e.g. subcortical vs deep white matter, or frontal vs parieto-occipital), and identification of key imaging features (e.g. contrast
enhancement, calcification, cysts and cortical dysplasia) are important clues for diagnosis of these often under-recognised
or misdiagnosed diseases.

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