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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Biopsy
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Diagnosis, Differential
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Fatal Outcome
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Gastroesophageal Reflux / etiology*
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Gaucher Disease / classification
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Gaucher Disease / complications*
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Gaucher Disease / diagnosis*
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Gaucher Disease / genetics
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Gaucher Disease / therapy
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Glucosylceramidase / therapeutic use
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Hepatomegaly
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Humans
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Infant
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Male
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Microscopy, Electron, Scanning Transmission
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Nasal Mucosa / pathology
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Nasal Mucosa / ultrastructure
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Respiratory Tract Diseases / etiology*
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Splenomegaly
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Trachea / pathology
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Trachea / ultrastructure
Substances
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Glucosylceramidase
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imiglucerase