RESUMO
Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive disorders defined by defects in bile excretion and transport. We describe a 6-week-old boy from Micronesia presenting with failure to thrive and jaundice. His diagnostic workup was remarkable for direct hyperbilirubinemia, hepatitis, and hepatic ultrasound with possible portosystemic shunting. The presence of toxoplasma IgG initially raised concern for congenital toxoplasmosis. Ultimately, the absence of bile salt export pump staining on liver histology and subsequent genetic studies confirmed a diagnosis of progressive familial intrahepatic cholestasis type 5, an exceedingly rare cause of neonatal cholestasis.
RESUMO
The differential for neonatal hematoma sis ranges from benign etiologies to life-threatening emergencies. Neonatal gastric perforation is a rare cause of neonatal hematoma sis but is a deadly condition, requiring prompt diagnosis and treatment. The etiology is usually related to conditions predisposing to over distension of the stomach, such as positive pressure ventilation or distal obstruction, but in some cases cannot be determined. Patients generally present with abdominal distension and respiratory distress. We present a case of a 1-day old term baby girl who developed sudden onset hematoma sis and clinical deterioration, who was found to have a large proximal gastric perforation requiring emergent total gastrectomy with delayed reconstruction.
