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Haematological findings in type Ib glycogen storage disease before and after portacaval shunt
Insights
Glycogen storage disease type Ib can cause neutropenia and infections. A portacaval shunt normalized granulocyte counts and infections, also correcting platelet dysfunction.
Area of Science:
- Biochemistry
- Hematology
- Pediatric Gastroenterology
Background:
- Glycogen storage disease type Ib (GSD Ib) is a rare inherited metabolic disorder.
- GSD Ib is characterized by glucose-6-phosphatase deficiency, leading to hypoglycemia and other metabolic derangements.
- Patients with GSD Ib often present with recurrent infections due to neutropenia and neutrophil dysfunction.
Observation:
- A pediatric patient with GSD Ib exhibited persistent neutropenia and recurrent respiratory infections.
- The patient also presented with platelet dysfunction prior to surgical intervention.
- A significant hypochromic anemia, likely due to splenic iron sequestration, was noted and resistant to treatment.
Findings:
- A termino-lateral portacaval shunt was performed to address the patient's complications.
- Following the shunt procedure, granulocyte counts normalized, and recurrent infections resolved.
- The platelet dysfunction observed pre-operatively was also corrected by the portacaval shunt.
Implications:
- Surgical intervention, specifically a portacaval shunt, can effectively manage hematological complications in GSD Ib.
- This case highlights the potential benefits of shunting procedures in improving immune function and resolving infections in GSD Ib patients.
- Persistent splenic iron sequestration and associated anemia remain a challenge in managing GSD Ib, requiring further investigation and therapeutic strategies.
Abstract:
Persistent neutropenia and repeated respiratory infections were documented in a girl with glycogen storage disease type Ib. A termino-lateral portacaval shunt resulted in normalisation of the granulocyte counts and disappearance of the recurrent infections. The platelet dysfunction that was apparent before surgery, was also corrected by the shunting procedure. A marked hypochromic anaemia, however, probably caused by a sequestration of iron in the spleen and resistant to therapy, remains a persistent feature in this patient.