Dr Joepaul Joy, Dr Jayasree(Neonatology), Dr Rekha Hari ,Dr Bhanu Vikraman Pillai(Ped Gastro), Dr C Jayakumar
This ba was antenatally suspected as a Fetus with intrahepatic portosystemic shunt (type 3a)- Hypoplastic right portal vein, mild cardiomegaly, dilated right atrium, tortuous ductus arteriosus, single umbilical artery. Ba was born LSCS to a G3P1L1A1 GDM mother at 38week of gestation
Triple test revealed Trisomy 21 intermediate risk. But no features of Trisomy 21 or external anomaly noted after birth.
APGAR score 8/9 at 1/5 min. Cord gas was normal.
Wt- 2kg, HC-32.5cm, Length-40cm. At birth ba had tachypnea with mild intercostal, subcostal retraction but with normal Air entry bilaterally . Due to respiratory distress ba was transferred to the NICU onT -piece resuscitaire on PEEP 6cmH2O.
Strong possibility of Congenital Intrahepatic portosystemic shunt was considered.
He was started on Bubble CPAP at FiO2 21% which was gradually weaned to nasal cannula (room air) 3 days.
CXR on admission showed cardiomegaly with fluid in fissure.
Ba was weaned to room air day 4 of life and remained stable during the hospital stay.
Detailed ECHO was done and found to be normal with torturous PDA.
Ba was initiated on feeds from day 1 of life with parenteral nutrition and gradually progressed to full feeds day 3 of life. GRBS monitoring was normal. Satisfactory weight gain noted. Ba was active, with normal tone. USG Abdomen and KUB showed mild prominence of renal pelvis in the kidney.
NonAnonB high serum bilirubin levels was managed phototherapy
Serum Ammonia levels were monitored and gradually showed a rising trend while on full feeds, with a normal alpha feto protein. Lactulose was begun and later Rifaximin was added due to minimal increase of Ammonia levels.
Pediatric Cardiologist suggested , coiling for thePDA for which CECT Abdomen was done which showed multiple small communicating shunts connecting left branch of portal vein to all hepatic veins and a hypoplasticright branch of portal vein.
Hence, in the background of clinical instability, surgical intervention was deferred.
Serum Ammonia began to respond to the medications.
Initial thyroid profile was found to be deranged and was normalized.
Peripheral Smear was normal, no hemolysis. DCT was negative.
BAEP study shows normal latencies of all waves.Condition on discharge: Ba was active, feeding well. Thermostable. Systemic examination: Within normal limits. Grade 2/6 systolic murmur present. Weight on discharge -2.63kg, OFC-33cm, Length-42cm. Within normal limits. Grade 2/6 systolic murmur present. Weight on discharge -2.63kg, OFC-33cm, Length-42cm Ba was discharged on Lactulose and Rifaximin. Currently ba is 5 months old and is on Lactulose, Tonoferon and Zincovit drops. He has attained age appropriate milestones and is immunized for age. Plan is to repeat USG Abdomen on regular intervals and to do further genetic tests if ammonia level rises.
*CT image showing multiple small communicating shunts connecting left branch of portal vein to all hepatic veins and a hypoplastic right branch of portal vein.
Discussion:
Congenital portosystemic shunts (CPSS) are rare anatomic vascular anomalies resulting in communications between the portal venous system and the systemic venous circulation, affecting an estimated 30,000 to 50,000 live births .
They are accepted to arise from incomplete vascular remodeling between the embryonic and fetal hepatic and perihepaticcirculations in the first 4 to 6 weeks of gestation.
These vascular malformations are generally low-pressure systems that may vary in size and number and may exist inside or outside of the liver diverting portal blood flow with varying degrees to the systemic circulation.
CPSS differ from portal hypertension-acquired intra or extrahepatic portosystemic shunts in that they are low-pressure systems unrelated to portal hypertension.
Extrahepatic CPSS were previously known as Abernethy malformations.
CPSS are typically characterized into intrahepatic and extrahepatic. This distinction is relevant because extrahepatic shunts rarely close spontaneously
Intra hepatic shunts seem more prone to do so in early life, decreasing their clinical significance.
Furthermore, persistent patent ductus venosus (PDV), although considered as an IH shunt, is unlikely to close spontaneously after 1–3 months of age, and
therefore is often included in the category of EH CPSS.
Presentations include neonatal cholestasis , liver tumors, hepatopulmonary syndrome (HPS), pulmonary arterial hypertension (PAH), high-output cardiac failure ,hyperinsulinemic hypoglycemia, hyperammonemia, hyperandrogenism, precocious puberty, tall stature, amenorrhea, hypothyroidism, macrohematuria and neurocognitive disorders.
Early diagnosis means of liver Doppler US allows for prompt management of potentially life-threatening manifestations, ultimately improving the outcome
Angio-CT scan is used to confirm CPSS presence, location and anatomical type, as well as the presence of liver nodules. Essentially, the goal of CPSS management is either to halt or reverse systemic manifestations and/or prevent their development in patients who have reached an age beyond which spontaneous closure can still be expected.
Take home message- All antenatally detected cases should be evaluated in detail postnatally for appropriate management and should be reviewed on regular basis.