BACKGROUND Mutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of neonatal diabetes and congenital hypothyroidism with 12 reported patients to date. Additional features, previously described, include congenital glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay, facial dysmorphism, osteopenia, sensorineural deafness, choanal atre...

This paper presents four cases of abnormal soft tissue activity in the bone scan of patients with different lesions (lung inflammatory pseudotumor, pulmonary fibrosis, pulmonary metastatic osteosarcoma and metastatic hepatic carcinoma of colon).

Background Chronic liver diseases (CLD) in children represent a growing health problem with significant morbidity and mortality. This study aimed to define the clinicopathological pattern of pediatric CLD in Sohag University Hospital, Sohag,Upper Egypt. Materials and Methods A total of 151children with CLD were included in a prospective hospital-based study from June 2014 to May 2018. Cases of...

Introduction: Hepatic hemangiomas (HH) are the most common benign tumors of liver and consist vascular malformations or hamartomas congenital origin that increase due to ectasia. The declared giant hepatic (GHH) embody from 10 cm (most commonly) 20 more

We have studied 92 patients with Alagille syndrome (AGS) to determine the frequency of clinical manifestations and to correlate the clinical findings with outcome. Liver biopsy specimens showed paucity of the interlobular ducts in 85% of patients. Cholestasis was seen in 96%, cardiac murmur in 97%, butterfly vertebrae in 51%, posterior embryotoxon in 78%, and characteristic facies in 96% of pat...

Multiple intrahepatic portosystemic shunt (IPSS) without portal hypertension, now thought to be congenital in origin, is very rare. The presence of IPSS, unlike other congenital diseases, may not be recognized for several decades due to the time it takes to develop hepatic encephalopathy. In this article, we report an autopsy case of an 80-year-old Japanese woman with a one-month history of hyp...