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A patient with type 2 Gaucher's disease with respiratory disease
Eyman Shebani1, Marie Johannesson, Bo Strömberg
1Departments of Medical Cell Biology, University of Uppsala, Uppsala, Sweden.
Insights
Gaucher's disease type 2, a lysosomal storage disorder, can present with early respiratory and reflux symptoms in infants. Diagnosis is confirmed by identifying lamellar body accumulation in tracheal cells.
Area of Science:
- Pediatric Medicine
- Genetics
- Cell Biology
Background:
- Lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders.
- Gaucher's disease is a common LSD caused by deficiency of the enzyme glucocerebrosidase.
- Infantile forms of Gaucher's disease can be severe and rapidly progressive.
Observation:
- A 5-month-old infant presented with respiratory distress and gastroesophageal reflux.
- Electron microscopy of a tracheal biopsy revealed abnormal accumulation of lamellar bodies within columnar cells.
- The child later developed neurological symptoms and hepatosplenomegaly.
Findings:
- The observed clinical and pathological findings were consistent with Gaucher's disease type 2.
- Lamellar body accumulation in tracheal cells is a key ultrastructural indicator of this specific LSD subtype.
- Early respiratory and gastrointestinal symptoms can precede overt neurological and visceral manifestations.
Implications:
- This case highlights the importance of considering lysosomal storage diseases in infants with unexplained respiratory and reflux issues.
- Early diagnosis through biopsy and specialized testing is crucial for timely intervention in Gaucher's disease type 2.
- Understanding the cellular pathology aids in diagnosing and managing rare genetic disorders.
Abstract:
A 5-month-old boy had respiratory problems and gastroesophageal reflux. Electron microscopy of a tracheal biopsy specimen showed accumulation of lamellar bodies in the columnar cells indicative of lysosomal storage disease. Subsequently, the child had neurologic symptoms and hepatosplenomegaly, and the diagnosis of Gaucher's disease type 2 was made.