Glycogen storage disease type IV: Anderse’s Disease

Abstract

Objective: We aim to highlight the type IV glycogen storage disease, autosomal recessive disease characterized as inborn errors of metabolism. We must always pay attention to possible diagnosis, because clinical presentation is variable, with nonspecific symptoms. Importantly, an effective and quick treatment, with the accompanying conjunction with nutrition, endocrinology and genetics are key. Case description: SDNL, infant, 10 months, female, with clinical picture of post prandial vomiting preceded by nausea and diarrhea associated with greenish tinge. No known fever. Diagnosed with severe dehydration, started therapy and intravenous hydration, being required hospitalization. During hospitalization were observed hepatomegaly, irritable child and growth and developmental parameters much lower than appropriate. 3 to 6 months compatible bone age. Conducted research for inborn errors of metabolism, closing the diagnosis for Andersen’s disease. Discussion: Diagnosis is essential because there is great risk of familial recurrence (approximately 25% for each new couple’s son), and fundamental genetic counseling. The earlier the diagnosis, the lower the chances of developing serious consequences, both physical and cognitive. There are criteria and signs leading to think of Hereditary Metabolic Disease. The
infant in question had appropriate parameters growth until the fifth month, when it was in exclusive breastfeeding, but from the sixth month, with food supplementation, presented important and significant decline of the parameters, with scores very low weight for age. Abdominal physical examination was painful, with hepatomegaly, extremely irritable, remarkable muscle atrophy and delayed psychomotor development.