An Unusual Presentation of Extremely Early Neonatal Cirrhosis in Shwachman-Diamond Syndrome: A Case Report

Abstract

Exocrine pancreatic insufficiency, haematological dysfunction, and skeletal abnormalities are the three clinical characteristics of the rare inherited bone marrow failure syndrome (IBMFS), known as Shwachman-Diamond syndrome (SDS). Cirrhosis at a neonatal age is uncommon and is typically not documented, as in neonatal presentation. Here, we present a case of SDS in which bi-cytopenia with macro-nodular cirrhosis emerged before the age of one month. Utilising genetic testing on the infant and both parents, we were able to confirm the diagnosis. We were expecting a higher-level liver transplant set-up, but the infant passed away in the interim. Genetic studies play a significant part in the diagnosis of difficult cases.

Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature

“…Hepatic involvement is described in children with SDS, although it was reported as mild and resolves with age. However, severe cirrhosis was recorded in the following two cases: (a) one of a child initially presenting with failure to thrive and mildly elevated transaminase levels, attributed to pancreatic insufficiency due to SDS [ 71 ], and (b) an unusual case of extremely early neonatal cirrhosis in a 5-day-old male neonate admitted because of sepsis, hypoglycemia and feeding difficulties [ 72 ].…”

“…He was characterized as homozygous for SBDS:c.183_184delTAinsCT, a null variant which is commonly considered incompatible with life [ 97 ]. The neonate with extremely early neonatal cirrhosis, described by Reddy et al, also succumbed with fulminant liver failure and hepatic encephalopathy [ 72 ]. In older infants (7–15 months) with SDS, cardiac manifestations, including myocardial necrosis or fibrosis (specific for the left ventricle), were considered the cause of death [ 93 ].…”