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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Can you please tell me which disease(s) may best characterize these following features?

Hi! I am currently researching diseases in children associated with enlarged liver and kidney, central obesity with chubby cheeks, hyperhydrosis, cold/clammy skin, frequent nosebleeds, tachycardia and marked elevation of lipids and transaminases. I initially ruled in Cushing s disease (adenmoma-related) but the patient doesn t present with hypertension or hyperglycemia; instead, has normal BP and below normal glucose levels. Can you please tell me which disease(s) may best characterize these features?
Tue, 13 Oct 2020
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Pediatrician 's  Response
Hi,

Please rule out Glycogen storage disease type III as the above symptoms are typical of Glycogen storage disease.

Take care. Hope I have answered your question. Let me know if I can assist you further.

Regards,
Dr. Jesudasan A, Pediatrician
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Can you please tell me which disease(s) may best characterize these following features?

Hi, Please rule out Glycogen storage disease type III as the above symptoms are typical of Glycogen storage disease. Take care. Hope I have answered your question. Let me know if I can assist you further. Regards, Dr. Jesudasan A, Pediatrician