Congenital hepatic fibrosis: a family study

One family with four of seven siblings with congenital hepatic fibrosis is reported. The proband, the only member of this family with symptoms referable to the disease, was hospitalized because of an upper gastrointestinal hemorrhage. He had a presinusoidal type of portal hypertension. The other three siblings had the latent form of congenital hepatic fibrosis. In the family studied, intravenous pyelography and kidney biopsies showed normal results. This condition is possibly an inherited recessive autosomal disease.     

Congenital hepatic fibrosis with polycystic kidney disease: An unusual cause of neonatal cholestasis

Congenital hepatic fibrosis is characterized by hepatic fibrosis, portal hypertension, and renal cystic disease. Typical presentation of congenital hepatic fibrosis is in the form of portal hypertension, in adolescents and young adults. We present an unusual case of neonatal cholestasis with rapid deterioration within first 4 months of life, who was diagnosed to have congenital hepatic fibrosis with polycystic kidney disease on autopsy.     

Congenital ureteric strictures: an uncommon cause of antenatally detected hydronephrosis

Often misdiagnosed as primary megaureter or pelviureteric junction obstruction, congenital ureteral stenosis and valves are the main causes of congenital ureteric obstruction. We report three consecutive cases of congenital ureteric strictures presenting with antenatally diagnosed hydronephrosis. Two of our cases had a contralateral multicystic dysplastic kidney. We discuss the aetiology, clinical presentation, diagnostic evaluation, surgical management, and operative results as well as present an overview of the international literature, highlighting the importance of early referral in cases of contralateral abnormality as well as the importance of performing a retrograde study to facilitate the diagnosis and choice of incision.     

Congenital hepatic fibrosis in Saudi Arabia.

Congenital hepatic fibrosis (CHF) is a recognized cause of portal hypertension with oesophageal varices, gastro-intestinal haemorrhage and cholangitis in children without significant impairment of hepatic or renal function. This report describes the varied clinical presentation of CHF as seen at King Faisal Specialist Hospital and Research Centre (KFSH & RC) and emphasizes the clinical patterns that should enable a pediatrician to consider the diagnosis. Fourteen children with CHF were diagnosed between 1981 and 1988. The age at presentation ranged from 1.8-14 years (mean: 7.5 years); clinical manifestations at diagnosis were splenomegaly (12), hepatomegaly (11), failure to thrive (10), marked abdominal distention (4), and fever (4). Liver function tests were normal except for high alkaline phosphatase. Eight patients had polycystic kidneys confirmed on ultrasound examination. Upper gastro-intestinal endoscopy showed oesophageal varices of variable severity in all eight patients examined. Splenoportography revealed splenic vein occlusion in one patient. One patient died within days of admission with convulsions, coma, and aspiration pneumonia. One patient was lost to follow-up. The remaining 12 patients are all alive and receive regular follow-up. Two patients required splenorenal shunt. In view of the prevalence of consanguinity in Saudi Arabia, the diagnosis of CHF should be considered in children with hepatomegaly despite normal liver function tests, and particularly in those with renal abnormalities and/or evidence of portal hypertension.     

Congenital hepatic fibrosis and cerebral aneurysm in a 32-year-old woman

Congenital hepatic fibrosis has been associated with a number of visceral abnormalities, but only rarely with cerebral aneurysms. We report a case of a 32-year-old woman with congenital hepatic fibrosis and a subarachnoid hemorrhage secondary to a ruptured cerebral aneurysm. A review of the literature reveals only two previous reports of such an association and both were also associated with polycystic kidney disease. Our patient is unique in that she does not have polycystic kidney disease but rather medullary sponge kidney.     

An uncommon cause of acute kidney injury in young children: Cystinuria

Bilateral obstructive nephrolithiasis is a rare cause of acute kidney injury (AKI) in early childhood. As soon as the identification of AKI secondary to ureteral stone is made, it will necessitate an emergency treatment.PatientsWe report three infants with AKI caused by bilateral obstructive ureteral cystine stones. They were diagnosed with acute post-renal injury due to obstructive bilateral ureteral stones based on ultrasound scan findings. Immediately, bilateral ureteral stents were inserted for urinary drainage. Once renal function recovered to normal, each patient underwent ureteroscopy and percutaneous nephrolithotomy at the same session. Cystinuria was diagnosed by stone analysis and increased urinary excretion of cystine. Patients were advised to maintain a high fluid intake and were treated with potassium citrate in addition to tiopronin.ConclusionsWith these three cases we would like to emphasize the importance of urolithiasis in the differential diagnosis of acute renal failure in young children, since urolithiasis may only cause nonspecific symptoms in this population. An early diagnosis with prompt treatment and a close follow-up are the key for achieving the best long-term outcome in cystinuria.     

Anterior urethral valves: an uncommon cause of obstructive uropathy in children

PurposeAnterior urethral valves (AUV) are rare entities generally described in case reports. They are an uncommon cause of lower urinary tract obstruction in children and can be difficult to diagnose. In the present study, we present our experience in four children with AUV along with a literature review.Materials and methodsWe retrospectively identified four children with AUV presented between 1998 and 2005 at age 4–9 years.ResultsHematuria, urinary tract infection and weak voiding stream were the most common symptoms. Voiding cystourethrography (VCUG) confirmed the diagnosis of AUV. On cystourethroscopy, cusp-like valves in the anterior urethra were seen in all children. Transurethral endoscopic resection of the valves was carried out in three children using a pediatric resectoscope. In one child with a massive anterior urethral diverticulum, open resection of the valve, diverticulectomy and urethroplasty were performed. All patients were cured, none had complications as a result of surgery, and all reported a normal urinary stream at follow-up.ConclusionsChildren with poor stream and recurrent infections should be evaluated carefully and anterior urethral valves should be considered in differential diagnosis of obstructive lesions.     

Foreign body in vagina-an uncommon cause of vaginitis in children

An intravaginal foreign body of long duration can pose diagnostic dilemma in children. We present a case of eight and a half years old girl who was suffering from blood stained vaginal discharge for 3 years for which she was treated by few gynaecologists. A vaginal examination performed under general anaesthesia revealed a foreign body (lead pencil). In cases of pediatric vaginitis one should always look for foreign body in vagina.     

Anterior urethral valves in children: an uncommon multipathogenic cause of obstructive uropathy

Introduction  Anterior urethral valves (AUVs) are uncommon congenital anomalies causing urethral obstruction in boys. Patients and methods  Medical records of 13 children were reviewed retrospectively. Each patient (pt) was evaluated with voiding cysto-urethrogram (VCUG) and renal ultrasonography. Pts older than 5 years performed an uroflowmetry. Serum creatine was determined in all children. Results  All pts had difficulty in voiding and eight had recurrent urinary tract infection. Renal function was normal in all pts. VCUG showed filling of Cowper’s duct in a pt. In a case, a vesicoureteral reflux was discovered. Uroflowmetry showed a flat trace in all cases. Transurethral endoscopic resection of the valves was carried out in 11 children while open resection was necessary in two children. At serial follow-up, all pts remain symptom-free and uroflowmetry documented regular pattern. Discussion  Anterior urethral valves are rare lesions that may create problems at different stages. Some AUVs may result from the obstruction distal lip of a ruptured syringocele. Improvements in endoscopic equipment allow for minimally invasive transurethral resection. Large diverticula are best managed with open diverticulectomy and reconstruction. In newborns with severe altered urinary tract drainage, particularly in low birth-weight infant, a vesicostomy may be necessary.     

Hyaluronic acid predicts hepatic fibrosis in children with hepatic disease

BACKGROUND: Hyaluronic acid (HA) is removed by the liver via sinusoidal cell adhesion molecules. This is impeded in fibrosis, leading to a rise in serum HA. As a noninvasive marker of fibrosis, HA may obviate the need for liver biopsy. OBJECTIVE: To evaluate HA as a marker of hepatic fibrosis, in unselected children undergoing liver biopsy. METHODS: Ninety-three unselected consecutive children (median age, 7.5 years; range, 0.07-19 years) undergoing a liver biopsy between April 2003 and March 2004 were prospectively recruited. Liver biopsy and fasting HA levels were taken simultaneously. The Ishak score was used to stage fibrosis. Scores of 3 or greater were regarded as significant fibrosis. Hyaluronic acid levels were measured using an enzyme-linked binding protein assay (2002 Corgenix, Inc) (adult reference range, 0-75 ng/mL; pediatric reference range, 0-30 ng/mL). RESULTS: Twenty-three (25%) of 93 biopsies had significant fibrosis, and HA levels in this group were significantly higher than those with mild fibrosis (Ishak score, <3), (median level, 72 ng/mL vs 30 ng/mL; Mann-Whitney U test; P < 0.005). Hyaluronic acid level of 50 ng/mL had a positive predictive value 40% and negative predictive value 86% for significant fibrosis. An HA level 200 ng/mL has a sensitivity of 26% and specificity of 90%. CONCLUSIONS: Hyaluronic Acid is a valid noninvasive predictor of hepatic fibrosis in unselected children with liver disease. An HA level of 200 ng/mL strongly suggests significant fibrosis. Hyaluronic acid level of less than 50 ng/mL accurately identifies those who do not have significant fibrosis.     

Dengue virus infection: a major cause of acute hepatic failure in Thai children

BACKGROUND: Acute hepatic failure (AHF) can be caused by a variety of viruses, drugs, toxins and metabolic disorders. AIMS: A prospective study was conducted to determine the aetiology and outcome of AHF in Thai children aged 1-15 years. METHODS: All serum samples were tested for anti-HAV IgM, HBsAg, anti-HBc IgM, anti-HCV, anti-HEV IgM and anti-dengue IgG and IgM. Further individual investigations were done according to the clinical impression. RESULTS: Forty subjects were enrolled from 14 centres during February 2000 to December 2001. Five cases were excluded owing to a lack of evidence of encephalopathy. The causes of AHF were dengue infection in 12 (34.3%), Wilson disease in 2 (5.7%), T-cell lymphoma in 2 (5.7%), ischaemic hepatitis in two (5.7%), haemophagocytic syndrome in one (2.8%), CMV in 2 (5.7%), Reye syndrome in one (2.8%) and unknown in 13 (37.1%) patients. The fatality rate was 68.6%. Eight of 24 (33.3%) deaths were caused by dengue infection. CONCLUSIONS: Improvements in sanitation and socio-economic status as well as the implementation of hepatitis B vaccine in the Extended Programme on Immunization (EPI) are likely to be the reasons for the observed absence of AHF caused by hepatitis A and B. The study showed that dengue infection, on the other hand, was a major cause of AHF in Thailand.     

An uncommon cause of seizures in children living in developed countries: neurocysticercosis -a case report

Background

It is well known that certain non-thyroidal critical illness may lead to euthyroid sick syndrome(ESS). There are little reports about the change of thyroid hormone in the children's central nervous system (CNS) infections.

Results

The results of serum TT3, TT4 and TSH in these children were compared with those in 20 cases of healthy adults and 20 cases of adults with primary hypothyroidism. Serum T3 and T4 were decreased in 34/78 children with CNS infections, T3 and T4 were much lower than those of healthy adult (p < 0.05), but still higher than that of the primary hypothyroidism (p < 0.05), and TSH levels were not significant differences among children with CNS infections and children with non-CNS infections (p > 0.05). Low T3 and T4 levels in serum and cerebrospinal fluid(CSF)were predominant in children with serious infections of CNS, 31/34 (percent 91.17) cases of serious CNS infection had low serum TT3 and/or TT4. The low T3 with low T4 was seen in 14/34 children of severe CNS infections, 3 of them died. The levels of CSF T3 (X ± SD = 0.39 ± 0.47 ng/ml) and T4 (x ± SD = 1.02 ± 1.27 ug/dl) in the serious CNS infections were lower than that of non-CNS infections T3 (x ± SD = 0.93 ± 1.23 ng/ml), and T4 (x ± SD = 2.42 ± 1.70 ug/dl), 7 died children were all in the subjects of low T3 and/or low T4. In 22 children with non-CNS infections, serum T3 and T4 levels were lower than that of healthy adult, but have not significant difference(p > 0.05).

Conclusions

These results suggest that detection of TT3, TT4 and TSH in serum and/or CSF simultaneous or alone in analyses would be valuable in correctly judging thyroid function and evaluating the prognosis of the children with infections of CNS. Measuring a little amount of blood (1 ml)or CSF required for this method is a simple, convenient and accurate method.