History: A 3-week-old Amish baby presented to our Emergency Department with fast breathing and chest retractions for one day and worsening abdominal distention for two days. She was exclusively breastfed and was stooling and voiding appropriately. She was the product of non-consanguineous marriage and was born via vaginal delivery at term at home. She passed meconium within 48 hours of birth. She was not given Vitamin K after birth. Family history was non-contributory.
Physical examination: Patient was ill appearing. She was afebrile, tachypneic (40 - 60 breaths/min) and tachycardic (HR 180 bpm). Her oxygen saturation was in mid 80s on room air. She had visible chest retractions. She did not have a murmur; femoral pulses were strong and capillary refill was brisk. She had significant abdominal distention with an umbilical hernia and dilated superficial veins. Liver or spleen were not palpable however the abdomen was tense. Rectal irrigation revealed non bloody yellow stool. Digital rectal exam showed no blood or forceful expulsion of stool. She had petechiae on bilateral lower extremities.
Diagnostic Work-up: CBC showed normocytic normochromic anaemia with haemoglobin 9.5 g/dl and haematocrit 27.5%. Metabolic profile was significant for hyponatremia (sodium 124 mEq/L), hypochloraemia (chloride 89 mEq/L), elevated anion gap metabolic acidosis (bicarbonate 12 mEq/L) and elevated creatinine levels (0.58 mg/dL). Hepatic function panel showed hypoalbuminemia (albumin 1.8 g/dL), elevated PT/PTT/INR to 90/71/10.9 and elevated liver enzymes AST/ALT/GGT to 67/34/188. Blood cultures returned positive for Group A Streptococcus. Upper GI study showed passage of contrast till jejunum with normally placed duodenojejunal junction. CT Abdomen showed no evidence obstruction. However, it revealed presence of collateral vessels at hepatic hilum and a focal density at the confluence of superior mesenteric vessel with non visualization of the splenic vein; suspicious for thrombosis in the portal vein. Duplex ultrasound showed absence of flow in portal veins, with patent hepatic veins and IVC.
Final Diagnosis: Patient's diagnosis was consistent with portal vein thrombosis (PVT) in the setting of sepsis and coagulopathy due to late vitamin K deficiency.
Discussion: Patient was admitted to the Pediatric ICU. She was given vitamin K and that helped lower the INR to normal levels. She was given IV antibiotics. We did not do any anticoagulation for portal vein thrombosis. Her abdominal distention did not improve during the PICU stay however she became clinically stable. We recommended a transfer to a liver transplant center for further evaluation of portal vein thrombosis but family refused and wanted to be discharged home for hospice care. Our hospice team was involved and patient was sent home. Baby was given breastfeeding and supportive care at home. The abdominal distention decreased over time and baby started thriving. A two month follow up in the GI clinic showed that baby was doing well and her abdominal distention had resolved. Repeat labs were normal and repeat ultrasound did not show any significant pathology. Patient was discharged from the hospice care.
Differential diagnosis for abdominal distention in neonatal period is broad and includes bowel obstruction secondary to malrotation, Hirschsprung's disease, volvulus and bowel atresia; organomegaly, storage disorders, necrotizing enterocolitis, ileus, sepsis, haemorrhage, ascites, portal vein thrombosis and tumours.
In the case of our patient, portal venous thrombosis developed in the setting of sepsis. Patient was born at home and was not given vitamin K and that might have increased the risk of sepsis and bleeding. Portal vein thrombosis often occurs in neonatal period, with and incidence of 36/1,000 NICU admissions. Most common causes for PVT in neonatal period include umbilical venous catheter placement and sepsis. Neonatal PVT might be non-occlusive and may remain asymptomatic and present later in childhood with GI bleeding and splenomegaly. Role of anticoagulation in neonatal PVT remains controversial as the long term data are not available. In summary, abdominal distention during neonatal period has broad differentials and hepatic cause including portal vein thrombosis should be considered as the potential cause of neonatal abdominal distention.
