Early detection of severe cholestatic hepatopathy in COACH syndrome

Abstract

COACH syndrome is a disorder with cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis. Sixteen cases with certain COACH diagnosis have been reported so far. Neurologic abnormalities are the first symptoms in most cases. The majority of cases were diagnosed late in childhood or adolescence. Complications of the hepatopathy contribute extensively to the morbidity and lethality in the course of the disease. Major complications are portal hypertension, esophageal varices, and gastrointestinal bleeding. We report of a child with only mild neurologic symptoms, but severe hepatic fibrosis with cholangiopathy, and review the literature. This is the first description of profound cholestatic hepatopathy in a very young child with COACH syndrome. The patient was found to have cerebellar vermis hypoplasia, unilateral optical nerve coloboma, mild dysmorphic signs, and a ventricular septum defect. Routine laboratory investigations eventually revealed elevated liver enzymes. Prothrombin time was abnormal. Ultrasound scan of the liver was normal. Hepatotropic viral infections were excluded. We performed a liver biopsy at the age of 16 months, confirming an early stage of cirrhosis with septal fibrosis and pseudolobules, inflammatory infiltrates, signs of cholestasis, and reduced numbers of intrahepatic bile ducts. Early detection and differentiation of liver pathology are important in COACH syndrome. Progressive destructive cholangiopathy may contribute to hepatic fibrosis in COACH syndrome. Liver disease can be severe even in cases with mild neurologic deficits.

Successful combined liver and kidney transplant for COACH syndrome and 5‐yr follow‐up

“…Most cases of COACH syndrome are accompanied with dysplastic renal disease, such as fibrocystic renal disease, atrophic tubules, and tubular basement membrane thickening (10). Foell et al(16) showed that 70% of COACH syndrome has renal abnormalities, and it may clinically manifest only in adulthood like our case (8, 10) (Table 1).…”

“… 1, Foell et al (16); 2 and 3, Wiesner et al (19); 4 and 5, Kumar and Rankin (14); 6, Barzilai et al (15); 7 and 8, Thompson and Baraitser (11); 9 and 10, Dietrich and Straub (10); 11, 12 and 13, Verloes and Lambotte (8); 14 and 15, Gentile et al (13); 16 and 17, Hunter et al (9); 18, Herzog et al (17); 19, Kirchner et al (18); 20, Baylor University Medical Center. …”

“…A special subgroup is the COACH syndrome, which was introduced by Verloes and Lambotte (8) to describe a disorder with cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis. It is a very rare disease, and only two liver transplants have been reported so far out of nineteen cases with certain COACH diagnosis (8–18). Neurologic abnormalities are the first symptoms in most cases.…”

Combination of Cor Triatriatum Sinistrum and Hypoplastic Left Heart Syndrome in Meckel-Gruber Syndrome: A Case Report

“…Autosomal recessive polycystic kidney disease is associated with congenital hepatic fibrosis, but the renal cysts differ from the cystic disease in MKS and involve collecting ducts, maintaining the reniform appearance of the kidney on gross inspection [32]. The COACH syndrome includes cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis [33,34].…”