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A full-term male was born after a pregnancy complicated between 22 and 31 weeks of gestation by non-immune hydrops fetalis (NIH). At 48 h of life, the physical examination revealed jaundice, which was treated successfully with conventional phototherapy for 24 h, and mild hepatomegaly, which was not promptly investigated.
At 20 days of life, the patient presented with a clinical picture of failure to thrive and significant abdominal distension (figure 1). Liver and spleen were palpable at 7 and 8 cm below the costal margin, respectively. The patient was dystrophic without dysmorphic features or signs of neurological involvement. Liver enzyme levels and cholestasis indices were significantly altered (aspartate aminotransferase 126 U/L gamma glutamyl transferase 283 U/L, alkaline phosphatase 533 U/L, total bilirubin 58 mmol/L, conjugated bilirubin 41 mmol/L), while leucocyte count, haemoglobin level, coagulation parameters, albumin and serum glucose level were …
Contributors ET and EM contributed equally. ET and EM drafted the initial manuscript. DD, CB, RB and AB contributed to the enrolment of the patient, diagnosis and sample collection. AD performed sphingomyelinase activity dosage. GG performed plasma oxysterols urinary bile acids profile analysis.
Competing interests None declared.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.