Case report of one month and 15 days old baby with type V hyperlipoproteinemia (HLP)

Autor: Shabnam Dildar, Tahir Sultan Shamsi
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Zdroj: BMC Endocrine Disorders, Vol 20, Iss 1, Pp 1-5 (2020)
Druh dokumentu: article
ISSN: 1472-6823
DOI: 10.1186/s12902-020-0502-0
Popis: Abstract Background Most of the patients with type 1 and V hyperlipoproteinemia (HLP) present with symptoms and signs of acute pancreatitis due to marked elevation of triglycerides, but this baby presented with a chest infection, which was later diagnosed as type V HLP on laboratory workup. Case presentation We report a case of a 1 month and 15 days old baby boy, product of 2-nd degree consanguinity admitted to a nearby hospital with complaints of refusal to feed, cough and excessive crying. On examination his heart rate was 102 beats/min, respiratory rate was 55 breaths/min and temperature was within the normal range, provisional diagnosis of Pneumonia was made. His samples were tested at our laboratory, the lipid Profile at age of 1 month 15 days showed total cholesterol (TC) of 1400 mg/dl reference range (RR 885 mg/dl after dilution it was 31,400 mg/dl (RR 40 mg/dl) and low density cholesterol (LDL) of 200 mg/dl (RR
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