An Original Ontological and Anatomical Framework for Characterising Biliary Duct Plate Malformations in Nigerian Children Using Digital Pathology and Whole-Genome Sequencing

Biliary duct plate malformations are a heterogeneous group of congenital hepatic disorders arising from arrested or aberrant remodelling of the ductal plate during foetal liver development. They encompass Caroli disease, congenital hepatic fibrosis, and biliary hamartomas, and present variably in paediatric and adult gastroenterological practice. The anatomical spectrum, clinical presentation patterns, and genomic basis of these malformations in Nigerian children are entirely uncharacterised, limiting diagnostic clarity and genetic counselling. This study aims to develop an original ontological and anatomical framework for classifying biliary duct plate malformations in Nigerian children using digital pathology and whole-genome sequencing. Liver biopsy and resection specimens from children presenting with congenital hepatic fibrosis, biliary atresia, and Caroli disease at Lagos University Teaching Hospital, Ekiti State University Teaching Hospital, and National Hospital Abuja will be digitalised using high-resolution whole-slide imaging. Computational pathology algorithms will be trained to classify ductal plate malformation subtypes based on anatomical criteria including duct plate remnant distribution, periductal fibrosis extent, and portal tract architecture. Whole-genome sequencing of extracted DNA will identify pathogenic variants in PKHD1, SEC63, and other known duct plate malformation genes. An original ontological classification framework incorporating anatomical, genomic, and clinical data will be developed, constituting a foundational contribution to paediatric hepatic anatomy and rare disease genomics in Nigeria.

Keywords: biliary duct plate malformation, digital pathology, whole-genome sequencing, paediatric liver, congenital hepatic fibrosis