Neonatal Cholestasis and Bleeding Tendency in a Consanguineous Family: A Novel Case of Homozygous ABCB11 Variant Associated with CD36 Deficiency

Abstract

Neonatal cholestasis accompanied by acute hemorrhage in consanguineous families serves as a primary clinical indicator of autosomal recessive disorders. Severe bile flow obstruction leads to conjugated hyperbilirubinemia and profound malabsorption of fat-soluble vitamins, particularly vitamin K, which can precipitate life-threatening bleeding crises. This report describes a 5-month-old male infant, born to consanguineous parents via normal vaginal delivery, who experienced recurrent and prolonged neonatal jaundice starting in the second week of life. At four and a half months of age, despite receiving vitamin K prophylaxis at birth, the patient presented with severe spontaneous ecchymoses across the face and trunk. Laboratory investigations revealed marked transaminitis with elevated aspartate aminotransferase (380 U/mL) and alanine aminotransferase (294 U/mL), alongside significant hypocalcemia (7.0 mg/dL) and hypomagnesemia (1.3 mg/dL). Echocardiography demonstrated dilated cardiomyopathy. Subsequent genetic analysis via whole exome sequencing identified a novel homozygous ABCB11 variant associated with CD36 deficiency. The patient was managed with aggressive clinical stabilization, vitamin supplementation, and targeted metabolic support, which halted the bleeding diathesis and improved hepatic and cardiac parameters. This case highlights the critical necessity of screening infants from consanguineous lineages presenting with prolonged jaundice for hereditary cholestatic syndromes. Immediate clinical intervention combined with timely genetic testing is imperative to avert systemic metabolic failure, optimize therapeutic outcomes, and mitigate associated hereditary risks.