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In this webinar, Dr. Christina Lampe provides a comprehensive and empathetic walkthrough of the patient journey in alpha-mannosidosis, from diagnosis to long-term management. Drawing on her clinical experience at the Rare Disease Center in Germany, Dr. Lampe emphasizes the importance of early recognition, multidisciplinary care, and sustained support for patients and families across the lifespan.
The presentation follows a single patient case from infancy to adulthood, illustrating the evolving clinical manifestations of alpha-mannosidosis. In early childhood, signs include hernias, macrocephaly, developmental delay (especially speech), and recurrent infections—features easily mistaken for common pediatric conditions. Skeletal anomalies like dysostosis multiplex, identified through imaging, often lead to a differential diagnosis of mucopolysaccharidosis (MPS). However, when urinary glycosaminoglycans are normal, other lysosomal storage disorders such as alpha-mannosidosis should be considered.
Dr. Lampe highlights the diagnostic utility of urinary oligosaccharide screening, alpha-mannosidase enzyme activity assays, and confirmatory MAN2B1 gene testing. She discusses how alpha-mannosidosis shares features with MPS (e.g., coarse facial features, organomegaly) but also presents distinct aspects like ataxia, immunodeficiency, and psychiatric symptoms (e.g., psychotic episodes in adolescence).
The case study charts the patient’s adolescence and adulthood, revealing progression in musculoskeletal issues, ataxia, and cognitive decline. Despite a delayed diagnosis, enzyme replacement therapy (ERT) with velmanase alfa initiated in adulthood led to improvements in stamina, balance, pulmonary function, and overall quality of life.
The webinar underscores the need for comprehensive, coordinated, and individualized care. Alpha-mannosidosis management requires regular ENT, ophthalmologic, orthopedic, neurological, and respiratory evaluations, along with attention to growth, hearing, cognition, mobility, and psychosocial well-being. Dr. Lampe stresses the role of dedicated care coordinators to centralize follow-up and communication among specialties.
Social, psychological, and educational support systems are essential yet frequently underprovided. Survey data presented by Dr. Lampe highlight significant gaps in access to therapies, educational services, and psychological support, underscoring the need for policy changes and better funding in rare disease care.
Finally, Dr. Lampe advocates for early diagnosis, standardized monitoring, and participation in disease registries such as SPARCO to better understand natural history and treatment impact. She closes by urging pediatricians to consider alpha-mannosidosis when faced with developmental delays, hearing loss, and recurrent infections, and to connect patients with support networks.