Congenital hepatic fibrosis is a rare cause of portal hypertension and esophageal varices in children. We report cases of siblings with biopsy proven congenital hepatic fibrosis and with atypical retinitis pigmentosa. They presented with repeated episodes of jaundice along with progressive decrease of vision in night. They had hepatosplenomegaly and portal hypertension with esophageal varices. ...

Congenital hepatic fibrosis is a relatively rare disease of children and young adults characterized by hard hepatomegaly, portal hypertension with relative preservation of liver function and underlying architecture, and frequent renal involvement. We experienced 3 cases of congenital hepatic fibrosis with Caroli's disease in 3 siblings, whose clinical manifestations were diverse, such as repeat...

Repair of congenital groin hernia/hydrocele and orchidopexy for the undescended testis are the most common surgical procedure performed by pediatric surgeons. Up to 1% of all men have been reported to have a congenital unilateral absence of the vas deferens (CUAVD).1 Previous studies have suggested that ipsilateral renal anomalies are present in up to 91% of men with a congenital unilateral abs...

Congenital cranial dysinnervation disorders are a group of diseases caused by abnormal development of cranial nerve nuclei or their axonal connections, resulting in aberrant innervation of the ocular and facial musculature. Its diagnosis could be facilitated by the development of high resolution thin-section magnetic resonance imaging. The purpose of this review is to describe the method to vis...

Background Dermatoglyphics could assist in the diagnosis of congenital abnormalities. The aim of this study was to identify the dermatoglyphic patterns (finger print pattern type, total ridge count of each finger, a-b ridge count, and articulotrochanteric distance [ATD angles]) in the parents of cystic fibrosis children. Materials and Methods We recruited 75 parents of children with cystic fibr...

Isolated unilateral congenital ptosis is encountered relatively infrequently in clinical practice. It typically consists of a unilateral droopy eyelid, weak levator palpebrae superioris muscle function, lid lag, and an absent upper lid crease with no other abnormalities on examination. We present a four-and-a-half-year-old girl with isolated and mild unilateral congenital ptosis who unexpectedl...

Rall J E, Odel H M. Congenital polycystic disease of the kidney: review of the literature and data on 207 cases. AmJ Med Sci 1949; 218: 399-407. 2 Bradford W D, Bradford J W, Porter F S, Sidbury J B, Jr. Cystic disease of liver and kidney with portal hypertension: a cause of sudden unexpected hematemesis. Clin Pediatr (Phila) 1968; 7: 299-306. 3 Parker R G F. Fibrosis of the liver as a congenit...

Caroli's syndrome is a rare congenital disorder that involves intrahepatic bile duct ectasia and congenital hepatic fibrosis, frequently seen with concomitant autosomal recessive polycystic kidney disease (ARPKD). Literature on infants with ARPKD is rare. Here, we present a case of a two month old boy who was diagnosed with Caroli's syndrome and ARPKD.