Rare disease heralded by pulmonary manifestations: Avoiding pitfalls of an “asthma” label

  title={Rare disease heralded by pulmonary manifestations: Avoiding pitfalls of an “asthma” label},
  author={Shruti Bajaj and Mamta N. Muranjan and Sunil Karande and Das Prabhat},
  booktitle={Journal of postgraduate medicine},
Pulmonary manifestations are seldom recognized as symptoms of storage disorders. The report describes the diagnostic journey in a 30-month-old male infant, born of a third-degree consanguineous marriage referred to our institute as severe persistent asthma. History revealed that the child had progressively worsening breathlessness and persistent dry cough not associated with fever but accompanied by weight loss. On physical examination, there was growth failure, respiratory distress, clubbing… CONTINUE READING


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