Paeds Cases · genetics-dysmorphology-and-metabolism
Communicating a new glycogen storage disease type I diagnosis — OSCE
OSCE communication and shared decision-making station: explaining to parents what a new glycogen storage disease type Ia (von Gierke) diagnosis means for their infant who presented with fasting hypoglycaemia and a seizure, why the metabolic tetrad arose, what the dietary and metabolic management involves (cornstarch, continuous overnight glucose, the sick-day plan), the long-term complications that need surveillance, and what the autosomal recessive inheritance means for future pregnancies — while addressing fear, the burden of a lifelong dietary regimen, and the search for a cure.
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Counsel the parents. You have five minutes. Demonstrate an organised, empathic and accurate explanation that addresses the four questions a fellowship communication station rewards: what happened to their son and why the seizure occurred, what the immediate and lifelong plan is (diet, cornstarch, overnight glucose, the sick-day plan), what the long-term outlook and complications are, and what the genetic diagnosis means for him and for future pregnancies. The management framework follows the European Study on Glycogen Storage Disease Type I guidelines. [1]
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- [1]Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GPA. Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr, 2002.PMID 12373584
- [2]Weinstein DA, Wolfsdorf JI Effect of continuous glucose therapy with uncooked cornstarch on the long-term clinical course of type 1a glycogen storage disease. Eur J Pediatr, 2002.PMID 12373568
- [15]Boers SJ, Visser G, Smit PG, Fuchs SA. Liver transplantation in glycogen storage disease type I. Orphanet J Rare Dis, 2014.PMID 24716823