Clinical features and outcome of eight infants with intrahepatic porto‐venous shunts detected in neonatal screening for galactosaemia

Abstract

Of 18 newborn infants found to have persistent galactosaemia and without enzyme deficiencies, intrahepatic porto‐venous (P‐V) shunts were the cause in 8 cases. We retrospectively analysed the clinical and biochemical features of the eight infants. Four patients received prednisolone, one of whom with heart failure owing to arteriovenous shunts also underwent hepatic arterial embolization. The other four patients were merely observed without receiving drug therapy. Regardless of treatment, the P‐V shunts disappeared in five infants before the age of 1 y and persisted in three others. All infants showed mild or moderate abnormalities in liver function tests. None exhibited hyperammonemia or neuropsychiatric symptoms related to the shunts. The data indicated that the prognosis of infants with intrahepatic P‐V shunts is generally good. In the absence of complications related to the P‐V shunts, no treatment other than galactose elimination diet is indicated.

Clinical features of congenital portosystemic shunt in children

“…Three children in this series had an atrial septal defect and one had a cutaneous hemangioma. Congenital heart disease was reported in 30% of CPSS cases [4] and cutaneous hemangioma [13] was associated with CPSS.…”

“…Hepatic imaging to detect CPSS should be included during evaluation of hypergalactosemia without an enzyme deficiency. In the absence of other complications, no treatment other than galactose elimination diet is indicated [13].…”

Management and classification of type II congenital portosystemic shunts

“…Nonetheless, shunt fraction varies considerably, and hyperammonemia is still a problem in many children. Type IIa shunts are unique in that spontaneous closure has been reported in at least 13 young children [4,12,13]. When persistent, endovascular closure using coils, plugs, and/or stents has proven successful for many children with PDV [9,14,15] and other isolated type IIa shunts [16,17].…”

Congenital Extrahepatic Portosystemic Shunts (Abernethy Malformation): An International Observational Study

“…In countries routinely performing neonatal screening for hereditary galactosemia, it has been estimated that incidence of congenital portosystemic shunts is around 1 in 30,000 births (high levels of galactose can be found in newborns with congenital portosystemic shunts because galactose bypasses the liver). However, the usefulness of galactosemia screening to infer CEPS prevalence is debatable because other circumstances could cause false‐positive results, galactosemia levels cannot differentiate intra‐ and extrahepatic shunts, and, finally, it may underestimate its real prevalence given that not all patients with CEPS harbor hypergalactosemia.…”