Authors (including presenting author) :
Liu APY (1,2), Lee JTM (2), Yeung WL (1), Wong SN (1), Luk DCK (1), Ma ALT (1), Tse ML (1), Luk HM (3), Chan GCF (1,2)
Affiliation :
1. Department of Paediatrics and Adolescent Medicine, Hong Kong Children’s Hospital
2. Department of Paediatrics and Adolescent Medicine, The University of Hong Kong
3. Clinical Genetics Service Unit, Hong Kong Children’s Hospital
Introduction :
Neurocutaneous syndromes are inheritable conditions with predisposition to benign and malignant neoplasms of pediatric- and adult-onset. Such entities are associated with morbidities in multiple organ systems necessitating input from various specialties on surveillance and management. Contemporary guidelines recommend multidisciplinary care to be delivered through dedicated clinics, which had not been available in the local setting.
Objectives :
To demonstrate feasibility and describe the initial experience from the Neurocutaneous (NCT) Clinic at Hong Kong Children’s Hospital, the first-of-its-kind in the Hospital Authority, since commencement of service in August 2021. The NCT clinic serves as a gateway for patients and families to access multidisciplinary subspecialty services at Hong Kong Children’s Hospital and when necessary, a point-of-contact for coordination of care across Institutions.
Methodology :
A retrospective review of Departmental database.
Result & Outcome :
Between August 2021 and November 2022, 64 patients were seen in the monthly NCT clinic across a total of 183 consultation sessions. The diagnoses were genetically evaluated tuberous sclerosis complex (TSC) in 38, and neurofibromatosis (NF) in 26 (Type 1 in 24, Type 2 in 1, mosaic in 1). Female-to-male ratio was 33:31, median age at consultation was 9.9 years. Patients suffered from co-morbidities requiring consultations with specialties including Hematology/Oncology (n=64), Neurology and Neurodevelopmental Paediatrics (n=41), Cardiology (n=23), Orthopedic Surgery (n=22), Dermatology (n=19), and Nephrology/Pediatric Surgery (n=18). Twenty-two percent of patients had follow-up with 5 or more specialties. Forty-three patients (67%) were on targeted therapy, including mTOR inhibitors (sirolimus and everolimus) in 33, and MEK inhibitors in 10 (selumetinib and trametinib). A compassionate-access program to MEK inhibitor was rolled out in the context of the NCT clinic.
A dedicated NCT clinic is feasible and facilitates clinical care as well as research in such rare conditions. The experience at Hong Kong Children’s Hospital may serve as a prototype for similar setups for patients of adult age.
