Clinical pediatrics
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Clinical pediatrics · Dec 1995
Case ReportsNontuberculous Mycobacteria subcarinal lymphadenitis and severe airway obstruction.
This report has emphasized the importance of a careful evaluation of the chest roentgenogram for lymphadenopathy in children with wheezing, cough, or other symptoms of lower airway disease. This patient report also illustrates that intrathoracic lymphadenitis caused by nontuberculous mycobacteria should be considered in children with unexplained airway obstruction.
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Clinical pediatrics · Jul 1995
Diagnosing Gaucher disease. Early recognition, implications for treatment, and genetic counseling.
The diagnosis of Gaucher disease, the inherited deficiency of glucocerebrosidase and the most common inherited disorder of Ashkenazi Jews, can often be missed by clinicians. Medical records from patients with Gaucher disease were reviewed, revealing a wide range of initial misdiagnoses and the frequent use of unnecessary invasive diagnostic procedures. ⋯ Consequently, greater awareness of the symptoms encountered in these patients could alleviate unnecessary anxiety, testing, and confusion. A definitive diagnosis of Gaucher disease has important implications for genetic counseling and treatment.