hydronephrosis occurs as a congenital or an acquired condition following obstruction of the urinary tract. in this study, a four month old male holstein calf with emaciation, growth retardation and a poor dry scruffy hair coat was examined because of remarkable distention of right abdomen. at necropsy, right kidney was hydronephrotic as a very big fluid-filled round pelvis with the presence of ...

Cases of congenital ptosis are rare, that too occurring in twins. We presenting a case mono zygotic twins with bilateral fibrosis extraocular muscles (CFEOM). A 5-year-old boy child and his twin brother who monozygotic presented ptosis. Both children had been diagnosed as having Parents have refused surgical intervention for the muscle weakness. They were advised, if complained any visual abnor...

Background: Congenital hepatic fibrosis (CHF) is an autosomal hereditary disorder affecting the porto-biliary system. It is a rare hereditary disorder often presenting in childhood or adolescence with hepatomegaly, splenomegaly, and gastrointestinal bleeding. A timely diagnosis of organomegalies by sonography can prevent esophageal varices. Liver transplantation is now the only...

BACKGROUND In 2002, the new term congenital cranial dysinnervation disorder (CCDD) was proposed as a substitute for the traditional concept of congenital fibrosis of the extraocular muscles (CFEOM) based on mounting genetic, neuropathologic, and imaging evidence, suggesting that many, if not all, of these disorders result from a primary neurologic maldevelopment rather than from a muscle abnorm...

The Ras superfamily of guanosine-triphosphate (GTP)-binding proteins regulates a diverse spectrum of intracellular processes involved in inflammation and fibrosis. Farnesythiosalicylic acid (FTS) is a unique and potent Ras inhibitor which decreased inflammation and fibrosis in experimentally induced liver cirrhosis and ameliorated inflammatory processes in systemic lupus erythematosus, neuritis...

MicroRNAs (miRNAs) are short non-coding RNAs that modulate gene expression post-transcriptionally. Current evidence suggests that miR-21 plays a significant role in the progression of fibrosis in muscle diseases. Laminin-deficient congenital muscular dystrophy (LAMA2-CMD) is a severe form of congenital muscular dystrophy caused by mutations in the gene encoding laminin α2 chain. Mouse models dy...

We describe a patient with Noonan syndrome who presented with Human Leukocyte Antigen B27-associated recurrent acute anterior uveitis and manifestations of congenital fibrosis of the extraocular muscles, which has not been reported before.

The necropsy findings in a 5-year-old girl with congenital hepatic fibrosis are described. She had been followed since the age of 18 months and finally developed hepatocellular failure. Extensive haemorrhagic necrosis was found at necropsy and was probably related to the terminal illness. Other unusual findings were areas of typical post-necrotic cirrhosis and marked centrilobular and diffuse e...

holelithiasis in neonates is usually pigmentary and composed of calcium bilirubinate.1,2 In children, cholelithisasis and inspissated bile or sludge are associated with prematurity, cystic fibrosis, hemolytic diseases, hemorrhage, congenital heart disease, starvation, total parenteral nutrition, infection, dehydration, ileal resection, abdominal surgery, congenital anomalies of the biliary trac...