Biliary atresia is an inflammatory cholangiopathy of the neonatal period that may lead to future fibrosis and obliteration of both intra and extrahepatic biliary ducts. It is an uncommon disease that can be further classified by morphology. The rare, atypical Type IIA variant results in absence of the common hepatic duct, but patent cystic and common bile duct, occasionally accompanied by a hilar cyst (so-called “cystic biliary atresia”) or otherwise normal-appearing gallbladder. In this educational case exhibit, we present a premature, former 31-week newborn with neonatal hyperbilirubinemia who was ultimately diagnosed with a type IIA biliary atresia and treated with the Kasai procedure. Abdominal ultrasound showed a contracted gallbladder, and subsequent HIDA scans showed no radiotracer excretion into the common bile duct or small bowel. Surgery and GI were consulted, and the patient underwent the Kasai procedure. The intraoperative cholangiogram confirmed type IIA biliary atresia and postoperatively there was a general downward trend of transaminases and direct bilirubin. In our discussion, we will be reviewing this patient’s uncommon morphology of biliary atresia, key radiologic findings and surgical- pathologic correlation, along with subsequent care and management for this condition. Read More

Meeting name: SPR 2023 Annual Meeting & Postgraduate Course , 2023

Authors: Weitz Daniel, Torres Manuel, Zandieh Arash

Keywords: Kasai, Hyperbilirubinemia, cholangiogram

Xq21 deletions are rare and infrequently documented in the medical literature. Genomic analysis of deletions in Xq21 indicates an association with X-linked deafness (XLD), intellectual disability, and choroideremia. A limited number of studies have assessed the significance of cochlear malformations with brain parenchymal abnormalities. A possible mechanism linking inner ear deformity and hypothalamic malformations has been attributed to a DNA transcription factor, encoded by POU3F4, playing a role in nervous system, pituitary gland, hypothalamus, and inner ear development. The subject of this case is a 14-month-old male with a history of bicuspid aortic valve and developmental delays that presented to otolaryngology with hearing loss. He failed his newborn hearing screening, and subsequent auditory brainstem response evaluation revealed bilateral mixed conductive and sensorineural hearing loss. His magnetic resonance imaging (MRI) internal auditory canal (IAC) study at 13 months of age showed features consistent with congenital XLD with incomplete partition type 3 (IP-III) and associated bilateral symmetric structural abnormalities of the inner ear structures. Fluid-signal intensity was noted in the bilateral middle ear cavities with partial mastoid effusions. There was also evidence of hypothalamic malformation. His genetic testing for chromosome microarray at 15 months of age showed a 12246 kb pathogenic deletion at Xq21.1q21.32 that was identified and confirmed in his mother as well. The deleted intervals involve 16 genes, three of which (POU3F4, ZNF711, CHM) are associated with known clinical disorders and were confirmed by a hearing loss gene panel. Pathogenic variants in the POU3F4 gene are associated with X-linked deafness-2 (DFNX2) and presentation of hearing loss. Pathogenic variants in CHM are associated with choroideremia, characterized by retinal pigment epithelium and photoreceptor degeneration. Pathogenic variants in ZNF711 are associated with intellectual disability. The purpose of this case report is to comment on the clinical presentation and radiologic findings of an infant with Xq21 deletions to add to existing literature on XLD. Malformations in the hypothalamus associated with IP-III currently have unknown clinical significance, and IP-III anomaly may affect the selection of cochlear implant type. Read More

Meeting name: SPR 2024 Annual Meeting & Postgraduate Course , 2024

Authors: Sheykhsoltan Mana, Scriven Kelly, Hoa Michael, Zandieh Arash

Keywords: Congenital Deafness