Q:

A 3-year-old girl presented with growth retardation,recurrent attacks of otitis media,

Anwaar
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2022-09-11
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A 3-year-old girl presented with growth retardation,recurrent attacks of otitis media, diarrhea, and hypoglycemic seizures. On examinatio, , there is hepatomegaly and her absolute neutrophil count (ANC) is 600/uL.
Of the following, the MOST likely diagnosis is

  1. Kostmann disease
  2. cyclic neutropenia
  3. drug-induced neutropenia
  4. glycogen storage disease lb
  5. Shwachman-Diamond syndrome
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Anwaar
2022-09-11
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(D). In patients with GSD lb, the loss of mucosal barrier function as a result of inflammation, which is likely related to the disturbed neutrophil function, seems to be the main cause of diarrhea

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