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The Case

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


0 Other:
0 Gestational alloimmune liver
disease/
0 neonatal hemochromatosis
0 Shock/hypoperfusion


0 Infection:
0 HIV
0 CMV
0 Herpes
0 Rubella
0 Parvovirus B19
0 Echovirus
0 Adenovirus
0 Syphilis


Differential diagnosis
Metabolic/genetic:

0 Disorders of carbohydrate
metabolism
0 Galactosemia
0 Fructosemia
0 Type IV gylcogenosis
0 Disorders of amino acid metabolism
0 Tyrosinemia
0 Disorders of lipid metabolism
0 Wolman, Niemann-Pick, Gaucher
0 Disorders of bile acid synthesis
0 3-beta-hydroxysteroid
dehydrogenase/isomerase
deficiency
0 4-oxosteroid 5-beta reductase
deficiency
0 Zellweger syndrome




0 Idiopathic
0 Alagille syndrome
0 Progressive familial
intrahepatic cholestasis
(Byler disease)
0 Congenital hepatic fibrosis
(Carolis disease)
0 Other metabolic disorders
0 Alpha 1 antitrysin deficiency
0 Cystic fibrosis
0 Hypopituitarism (septo-optic
dysplasia)
0 Hypothyroidism

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

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