Italian journal of pediatrics · 2025
Neonatal hereditary spherocytosis: a case report.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Coramusi Carolina, Lucangeli Natalia, Vadalà Sarah, Parisi Pasquale, Scapillati Maria Eleonora
Аннотация
BACKGROUND: Hereditary spherocytosis is a genetic disorder affecting red blood cell membranes, leading to increased destruction and haemolysis. In neonates, it ranges from asymptomatic to severe cases with anaemia, jaundice, and spleen issues. Early diagnosis through clinical, laboratory, and genetic tests is vital for prognosis. This clinical case is presented due to the rarity of neonatal-onset spherocytosis, providing an opportunity for a literature review.
CASE PRESENTATION: A full-term baby was born via vaginal delivery with a family history of hereditary spherocytosis. The patient was discharged without complications but was later hospitalized for an unrelated issue, during which haemolytic anemia was detected, leading to the beginning of the diagnostic process and subsequent onset of appropriate therapy with a positive outcome.
CONCLUSIONS: In cases of neonates with jaundice or anemia, it is crucial to consider neonatal spherocytosis among the differential diagnoses, as early diagnosis allows for appropriate therapy and enables the patient to maintain a normal quality of life.
CASE PRESENTATION: A full-term baby was born via vaginal delivery with a family history of hereditary spherocytosis. The patient was discharged without complications but was later hospitalized for an unrelated issue, during which haemolytic anemia was detected, leading to the beginning of the diagnostic process and subsequent onset of appropriate therapy with a positive outcome.
CONCLUSIONS: In cases of neonates with jaundice or anemia, it is crucial to consider neonatal spherocytosis among the differential diagnoses, as early diagnosis allows for appropriate therapy and enables the patient to maintain a normal quality of life.