ID: 20 day old infant born at 36 weeks EGA who is directly
admitted to the floor from her pcps office.
CC: Abdominal distention
HPI: Parents noted abdominal distention and labial swelling within one week after birth. This has been steadily worsening. Last week, dark vein like markings appeared on her abdomen. Her skin appears yellow. No vomiting, hematemesis, bruising, bleeding, acholic stools, poor feeding, changes in alertness. She does have a baseline oxygen requirement of 0.12L NC since about DOL 3 and this has not changed.
She was seen at her pcp office today and was found to have a direct bilirubin of 5.2 and indirect of 5.9. The Case PMedHx: 0 Born at 36 weeks via NSVD for preterm labor. 0 Maternal labs: GBS positive and adequately treated. RPR non reactive, Rubella immune, HepBsAg , HIV, and GC/CT negative. 0 Oxygen requirement of unclear etiology that began around DOL3 and remains stable at 0.12L NC. ECHO obtained and demonstrated PFO vs. small secundum ASD and mild left branch pulmonary artery stenosis.
Immunizations: Received Hep B vaccine.
Family Hx: Paternal cousin with CF. No other congenital abnormalities or genetic syndromes.
Social Hx: Lives with mother and father as well as 2 full siblings and 2 half siblings. No sick contacts at home. No daycare. The Case VITALS: Temp 37.1, HR 157, RR 48, BP 97/58, O2 sat 100% on NC 0.12 L GENERAL: No acute distress, awake, alert, feeding HEAD: Normocephalic, atraumatic, anterior fontanelle open, soft, and flat. EYES: normal red reflex and pupillary reflexes bilaterally, extraocular movements intact, no conjunctival injection. Scleral icterus. EARS: External ears without any pits or tags. Canals appear patent bilaterally. NOSE: no discharge or obstruction, NC in place OROPHARYNX: moist mucus membranes, no pharyngeal erythema or lesions, no cleft palate or lip NECK: supple without lymphadenopathy or tenderness to palpation. CARDIOVASCULAR: normal rate, rhythm, and S1/S2, 2/6 systolic murmur. 2+ peripheral pulses. RESPIRATORY: Shallow fast breathing. CTAB. Equal air movement. ABDOMEN: severely distended but compressible, non tender, active bowel sounds. Venous markings over abdomen. Unable to palpate liver or spleen secondary to tautness and distention. EXTREMITIES: all extremities warm and well perfused. No cyanosis, clubbing, or edema. BACK: no sacral dimple or hair tuft GENITOURINARY: normal female external genitalia, Tanner stage I, labial edema. NEUROLOGIC: awake and alert, normal strength, normal tone SKIN: Mild diffuse jaundice. No rashes, mottling, or unusual birthmarks.
Differential diagnosis
20 day old infant with conjugated hyperbilirubinemia and signs of portal hypertension. Differential diagnosis 0 Extrahapatic obstruction: 0 Biliary atresia 0 Choledochal cyst 0 Cholelithiasis or biliary slude 0 Tumor 0 Neonatal sclerosing cholangitis
Work Up Initial investigation: Further investigation: 0 Establish presence of cholestasis, define severity of liver dysfunction 0 Fractionated serum bilirubin 0 Transaminases, GGT, alk phos 0 Tests of liver function: glucose, albumin, cholesterol, ammonia, coags 0 CBC 0 Consider blood cultures, ascitic fluid analysis
0 Establish a specific diagnosis 0 Ultrasound of the liver and biliary system 0 Serologies or DNA testing for viruses (TORCH) 0 Serum alpha1 antitrypsin level and phenotype 0 Sweat chloride testing 0 Thyroid studies 0 Urine and serum amino and organic acids 0 Ferritin, serum iron 0 Genetic testing for CF, Alagille, progressive familial intrahepatic cholestasis types 0 Liver biopsy