Type Ib glycogenosis: diagnosis, features of clinical manifestations
The article provides a clinical case of a child with type Ib glycogenosis, the early symptoms of type Ib glycogenosis are described - neutropenia, infectious complications (recurrent boils), poor weight gain in the first months of life. Attention was focused on the alertness of pediatrician doctors regarding non-specific clinical signs of the disease. The considered clinical case demonstrates the importance of a multidisciplinary approach to leading patients with glycogenosis Ib to prevent severe metabolic and infectious complications.
Authors
- N. Ilyenkova
- О. С. Коноплева (ORCID: https://orcid.org/0000-0002-7203-7131)
- Е. Г. Нейман (ORCID: https://orcid.org/0000-0002-2682-8362)
- E. Volnistova
- E. Khaliulina
Institutions
- Krasnoyarsk State Medical University (RU)
- City Clinical Hospital No. 2 (RU)
Publication Details
- Journal
- Vrach
- Published
- 2025-05-30
- DOI
- https://doi.org/10.29296/25877305-2025-05-14
- Primary Topic
- Glycogen Storage Diseases and Myoclonus
- Type
- article
- Field-Weighted Citation Impact
- 0.00