الفهرس 
Introduction
Ductal Plate Malformation DiseasesOnly 14 pages are availabe for public view
Abstract
The aim of the present study was to investigate for phenotypes and syndromes of CHF in a cohort of Egyptian infants and children.
This both retrospective and prospective study has been performed on 27 CHF infants and children who attend the Pediatric Hepatology Clinic, Children’s Hospital, Faculty of medicine, Ain Shams University and Yassin Abd El-Ghaffar charity centre for liver diseases and research. They were diagnosed on the basis of liver biopsy findings compatible with CHF.
All patients were subjected to history taking, clinical examination, laboratory investigations, radiological investigation and liver biopsy.
The age of the patients at presentation ranged from7 months up to 14 years with a mean of 5.14 ± 3.85 years. They were 15 males (55.55%) and 12 females (44.44%). 9 of them from lower Egypt, 9 from Cairo, 5 from upper Egypt, 3 from Palestine and 1 from Elyaman.
Through our study we found 3 types of CHF as 20 cases were of the portal hypertensive type, 2 of the cholangitic type and 5 mixed types.
The association between CHF and other diseases was clear in our study as 6 cases are CHF + PKD, 3 cases were Caroli’s syndrome + PKD, 1case was CHF+ Neurofibromatosis, 1case CHF+BBS and 16 cases were isolated CHF.
We found that CHF affected other organs beside the liver which reflects multi –system character. 92.59% had Hepatomegaly, 96.29% had splenomegaly, 81.5 % had anemia, portal hypertension as evidenced by esophageal varices (51.9%), dilated abdominal veins and ascites (14.8%). 7.4% had duodenitis and gastritis, 3.7% had cerebellar vermis hypoplasia, 3.7% had mental retardation and 3.7% had right ventricle dilatation.
The frequency of complications of CHF as shown in our work is:
25.9% had cholangitis, 11.11% had Portal vein thrombosis, 3.7% biliary stones and 3.7% had hepatopulmonary syndrome.
In our study male to female distribution was 1.2:1.
There was no significant difference in the number between familial pattern (44.44%) and sporadic pattern (55.55%) of CHF. And the endogamy (relative’s marriage) has role in the appearance of the disease as the history of parental consanguinity was present in 16 patients (59.25 %).
The most common clinical presentation was abdominal enlargement which was present in 96.3% of patients, followed by hematemesis and melena (44.44%).
Fifteen (55.56%) of our patients had peculiar facial features including triangular face, high forehead, upward slanting of palpebral fissures, hypertelorism, long narrow nose with wide nostrils, long philtrum, micrognathia and large phone ears. Two patients (7.40%) had minute feature. Only one patient (3.7%) had BBS feature including high arched palate and obesity.
There was no significant effect of CHF disease on the patient’s weight and height as we found that most patients were within normal range (mean of weight percentile was 32.33 ± 29.988th and of height percentile was 28.85±32.83th).
Platelet count decrease with the follow up and there was an inverse correlation between platelet count and spleen size.
WBCs decreased significantly with time.
The mean hemoglobin was in the anemic range at presentation and it slightly increased with follow up with non significant.
Jaundice was present in 7 cases (25.92%) and total bilirubin levels increased significantly with time.
AST and GGT increase with the follow up but without statistical significant difference.
ALT and alkaline phosphatase showed decrease with the follow up but without statistical significant difference.
The kidney functions were normal in all cases.
CMV was present in 2 cases, EBV in 1 case and 13 cases had immunity against HBV.
Liver biopsy that has been taken from 24patients revealed that 100% had periportal fibrosis, 87.5% had abnormal aggregated bile ducts, 83.33% had distorted architecture, 37.5% had cholestasis, 33.33% had Inflammatory cells, 29.16% had cholangitis, 12.5% had degenerated hepatocytes and 8.3% had cirrhosis.
6 cases (22.22 %) died at a mean age 10.67 ±6.83 years.