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This Chiesi-sponsored webinar explores the importance of personalized, multidisciplinary care for patients with alpha-mannosidosis (AM), an ultra-rare lysosomal storage disorder. Led by Prof. Nathalie Guffon, Dr. Martin Magner, and Dr. Monica Lopez Rodriguez, the session draws on clinical experience, consensus guidelines, and real-life case studies to provide actionable recommendations for early diagnosis and ongoing management.
The webinar begins with an overview of AM’s heterogeneous clinical presentation. Although early psychomotor development may appear normal, many patients exhibit speech delay and childhood-onset hearing loss—two of the earliest red flags. Additional manifestations include skeletal abnormalities, immunodeficiency, cognitive decline, motor coordination issues, and psychiatric symptoms. Because symptoms develop gradually and can be subtle, diagnosis is often delayed by several years.
Dr. Guffon introduces the DELPHI consensus study, which aimed to standardize clinical approaches to diagnosis and care. The recommendations cover three areas: (1) initial assessment of newly diagnosed patients, (2) coordination of multidisciplinary care, and (3) monitoring of treatment response. This structured guidance is critical for ensuring that patients receive consistent and comprehensive evaluations throughout their care journey.
Dr. Magner underscores the importance of recognizing early symptom combinations—particularly cognitive impairment paired with hearing loss—as cues for suspecting AM. He reviews diagnostic tools such as urine oligosaccharide screening, enzyme assays, and MAN2B1 genetic testing. Emphasis is placed on not waiting for full symptom expression before initiating diagnostic workup.
Dr. Lopez Rodriguez presents a case study of a 15-year-old boy with AM to illustrate real-world challenges and best practices in personalized care. Despite a diagnosis at age nine, the patient experienced delays in baseline assessment due to limited local expertise. Ongoing care has included at-home enzyme replacement therapy, regular multidisciplinary assessments, and adaptations for socioeconomic factors. The case highlights the value of flexible care models and caregiver involvement in long-term management.
The session concludes with a discussion on quality-of-life measures, emphasizing that subtle improvements such as reduced infections, increased energy, and improved mobility can be meaningful indicators of treatment success—even in the absence of measurable biomarker changes. Clinicians are encouraged to focus on holistic outcomes and tailor monitoring protocols to individual patient needs.
This webinar reinforces the importance of early detection, standardized care frameworks, and individualized follow-up in improving outcomes for patients with alpha-mannosidosis.