El-Karaksy, H., D. Hamed, H. Fouad, E. Mogahed, H. Helmy, and F. Hasanain, "Ocular findings in patients with cholestatic disorders of infancy: A single-centre experience.", Arab journal of gastroenterology : the official publication of the Pan-Arab Association of Gastroenterology, vol. 18, issue 2, pp. 108-113, 2017. Abstract

BACKGROUND AND STUDY AIMS: Neonatal cholestasis can be associated with ocular findings that might aid in its diagnosis, e.g., Alagille syndrome (AGS) and Niemann Pick disease (NPD). We aimed to investigate the frequency of ocular manifestations in infants with cholestasis.

PATIENTS AND METHODS: This cross-sectional study included cholestatic infants presenting to the Paediatric Hepatology Unit, Cairo University Paediatric Hospital, Cairo, Egypt. All infants underwent examination of lid, ocular motility, anterior and posterior segments and measurement of intraocular pressure, cycloplegic refraction, ocular ultrasonography and vision.

RESULTS: The study included 112 infants with various cholestasis; 73 (65.2%) were males. The median age was 2months. Diagnosis was reached in 39 cases: 14 had AGS, 14 had biliary atresia (BA), 4 had NPD, 4 had post-haemolytic cholestasis, 2 had cytomegalovirus neonatal hepatitis, and one case had hepatorenal tyrosinaemia. Thirteen cases were probably having progressive familiar intrahepatic cholestasis (PFIC) type 1 or 2 considering their persistent cholestasis in the presence of normal gamma-glutamyl transpeptidase; 28 were left with a diagnosis of "idiopathic neonatal hepatitis" (INH), and 32 (28.6%) had no definite diagnosis. Ophthalmologic abnormalities were found in 39 cases (34.8%). The commonest finding was unilateral/bilateral optic nerve drusen in 12 (10.7%), followed by posterior embryotoxon in 11 (9.8%). Ocular findings were observed in 64.3% patients with AGS, 50% patients with NPD, 30.8% cases with suspected PFIC type 1or 2, 28.6% infants with INH, and 14.3% patients with BA.

CONCLUSION: Ophthalmologic findings are not uncommon among cholestatic infants. Ophthalmologic examination should be routinely performed, including assessment of anterior segment, fundus examination, and ocular ultrasound.

Mogahed, E. A., A. El-Hennawy, R. El-Sayed, and H. El-Karaksy, "Chanarin-Dorfman syndrome: A case report and review of the literature.", Arab journal of gastroenterology : the official publication of the Pan-Arab Association of Gastroenterology, vol. 16, issue 3-4, pp. 142-4, 2015. Abstract

UNLABELLED: Chanarin-Dorfman syndrome, a "neutral lipid storage disease with ichthyosis," is a multisystem inherited metabolic disorder associated with congenital ichthyosis and accumulation of lipid droplets in various types of cells.

CASE REPORT: A 3-year-old male presented to the Pediatric Hepatology Unit, Cairo University Children's Hospital, Cairo, Egypt, with accidentally discovered hepatomegaly. He had generalised ichthyosis with dark skin pigmentation and bilateral ectropion. Abdominal examination revealed generalised abdominal distention with firm nontender hepatomegaly. His liver functions were deranged. Blood film showed many vacuolated neutrophils. Serum triglyceride and creatine kinase levels were elevated. Abdominal ultrasound showed a moderately enlarged liver with a bright echo pattern. Liver biopsy revealed marked diffuse macrovesicular fatty changes. The diagnosis of Chanarin-Dorfman Syndrome was made based on the dermatological, haematological, and liver biopsy findings.

Mogahed, E. A., A. - H. A. Sayed, S. E. Khalifa, A. El-Hennawy, and M. S. El-Raziky, "Causes of secondary non-alcoholic fatty liver disease in non-obese children below 10 years.", European journal of pediatrics, vol. 179, issue 5, pp. 719-726, 2020. Abstract

This study aimed to detect etiologies and histopathological features of non-alcoholic fatty liver disease (NAFLD) in Egyptian children < 10 years from hepatologist perspectives. Infants and children below 10 years of age with biopsy-proven fatty liver over a 6-year period were included. NAFLD activity score was used to detect the presence of non-alcoholic steatohepatitis (NASH). The study included 66 cases whose age ranged between 5 months and 10 years. Transaminases were elevated in 60% patients. Glycogen storage disease (GSD) was the most common diagnosis (33.3%) followed by hepatitis C virus (HCV) (10.6%) and Chanarin-Dorfman syndrome (CDS) (9.1%). The cause of steatosis could not be identified in 28.8% of cases. There was a higher prevalence of secondary causes of NAFLD in patients < 10 years. Liver histopathological examination revealed preserved lobular architecture in 75.7% with minimal-to-mild fibrosis in 79%. Steatosis was macrovesicular in all specimens (severe steatosis in 39.4%). Four patients had NASH. Higher degree of steatosis was associated with more severe fibrosis (P = 0.01).Conclusion: GSD was the commonest cause of secondary NAFLD in Egyptian children < 10 years followed by HCV and CDS with higher degrees of steatosis in younger patients. The degree of fibrosis was significantly related to the degree of steatosis.What is Known:• Primary non-alcoholic fatty liver disease (NAFLD) is rare in children aged less than 10 years.• Secondary causes of NAFLD should be considered in patients who do not have traditional risk factors.What is New:• Glycogen storage disease, hepatitis C virus, and Chanarin-Dorfman syndrome are the commonest causes of secondary NAFLD in Egyptian children (< 10 years) with higher degrees of steatosis in younger patients.• The degree of liver fibrosis is significantly related to the degree of steatosis.

Abdullatif, H., W. elakel, sherif Baroudy, H. El-Karaksy, and E. A. Mogahed, "Covid-19 pandemic in Egyptian children with liver diseases: Incidence and impact on health care service delivery in a low/middle income country.", Arab journal of gastroenterology : the official publication of the Pan-Arab Association of Gastroenterology, vol. 23, issue 1, pp. 1-6, 2022. Abstract

BACKGROUND AND STUDY AIMS: The coronavirus disease 2019 (COVID-19) pandemic has had considerable effects on health care services given the need for re-allocation of resources and interruption of medical care. COVID-19 poses a challenge to patients with liver disease who are at risk of infection and more severe disease course. The current study aimed to assess the incidence of COVID-19 in children with liver diseases and evaluate the extent to which health care delivery was affected during lockdown.

PATIENTS AND METHODS: This cross-sectional analytical study conducted at the Pediatric Hepatology Unit, Cairo University Children's Hospital utilized a questionnaire to determine the incidence of COVID-19 in patients with liver diseases and the impact of COVID-19 on the patients' liver condition and health care service delivery. A presumed score was implemented to identify patients with probable COVID-19.

RESULTS: Data from 349 children with liver diseases were analyzed. The overall incidence of COVID-19 was 8%. Patients with documented and probable COVID-19 were compared to improbable COVID-19 cases. Notably, COVID-19 cases were younger and had higher incidence rates of cholestatic liver diseases. COVID-19 patients experienced significantly higher rates of hepatic complications (43%) and had significantly greater need for medical services during the lockdown. All COVID-19 patients recovered after a median (IQR) duration of 3 (4) days, except for one patient who succumbed to COVID-19 and hepatic complications.

CONCLUSIONS: COVID-19 affected the younger hepatic patients with cholestatic disorders of infancy. Hepatic complications were more common among COVID-19 infected children. Alternative ways of communication require development to prioritize patients who needs a hospital visit and monitoring. Clinical scores may help diagnosis of COVID-19 in low/middle income countries like Egypt to compensate for the deficient laboratory diagnostic facilities.

El-Karaksy, H., H. M. Abdullatif, C. M. Ghobrial, E. A. Mogahed, N. A. Yasin, N. Talal, and M. Rashed, "Clinical experience with hepatorenal tyrosinemia from a single Egyptian center.", PloS one, vol. 17, issue 5, pp. e0268017, 2022. Abstract

Although very recently, in Egypt, sick newborn screening has included screening for hepatorenal tyrosinemia, yet, it is not yet included in nationwide neonatal screening and hence diagnosis may be delayed. The aim of this study was to analyze data of all cases presenting with hepatorenal tyrosinemia to the Pediatric Hepatology Unit, Cairo University, Egypt from 2006 to 2019. Data were retrieved from patients' files including age of onset of symptoms, clinical signs, blood counts, liver functions, serum phosphorous, alpha-fetoprotein, succinylacetone and abdominal ultrasound. During this period, 76 patients were diagnosed with hepatorenal tyrosinemia if succinylacetone in dry blood spot was elevated above 1 μmol/L. These 76 cases came from 70 families; consanguinity was reported in 61 families. In our cohort we reported 30 affected siblings with a similar clinical presentation, who died undiagnosed. Presentation was acute in 26%, subacute in 30% and chronic in 43%. Abdominal distention was the commonest presenting symptom (52.6%). Coagulopathy was the commonest derangement in liver functions; hyperbilirubinemia and raised transaminases were less common. Ultrasound findings included hepatic focal lesions in 47% and enlarged echogenic kidneys in 39% and 45.3% respectively. Only 20 children were treated with Nitisinone because of unavailability and high costs; seven out of them underwent liver transplantation. In conclusion, although hepatorenal tyrosinemia is a rare inborn error of metabolism, in a large population country with high rate of consanguinity; this disease is not uncommonly diagnosed. The current treatment is not readily available because of the costs in a resource-limited country. Neonatal screening and subsidization of the costly medication need to be considered.

Mogahed, E., H. El-Karaksy, H. Zaki, and H. Abdullatif, "Autoimmune hepatitis in Egyptian children: A single center experience.", International journal of immunopathology and pharmacology, vol. 36, pp. 20587384211073265, 2022. Abstract

BACKGROUND AND AIM: Autoimmune hepatitis AIH) has variable clinical manifestations and should be considered in the diagnostic work-up of any patient with cryptogenic liver disease. The aim of the study was to determine the clinical, biochemical, histopathological characteristics and treatment outcome of AIH in Egyptian children.

PATIENTS AND METHODS: This observational study was conducted at the Pediatric Hepatology Unit at Cairo University Pediatric Hospital, Egypt. All children (<18 years of age) presenting from 2009 to 2016 with established diagnosis of AIH were included. Medical history, clinical examination, and results of investigations were retrieved from patients' files. The main outcome measures included the rate of remission, relapses, and mortality.

RESULTS: The study included 34 children with AIH. Twenty patients (58%) presented with chronic liver disease. There was a history of concomitant autoimmune diseases in 5 patients. Transaminases were elevated in all patients. There was synthetic dysfunction in 58%. Twenty-four patients (70.5%) had AIH-1, while nine patients (26.4%) had AIH-2 and one patient (2.9%) had autoantibody negative AIH. Piecemeal necrosis was observed in the liver biopsy of 79% of our cohort. Approximately 80% achieved biochemical remission (88% received combined therapy of prednisolone and azathioprine). About half of the patients developed relapses. One patient died of liver cell failure.

CONCLUSION: In children with liver disease, a diagnosis of AIH should be considered. In those patients, AIH-1 is more common than AIH-2. Prednisolone monotherapy or combined with azathioprine could achieve remission, but relapse is still common. Treatment non-adherence is the main risk factor for relapse.

Mogahed, E. A., H. El-Karaksy, H. Abdullatif, N. Yasin, A. Nagy, S. A. Alem, H. G. E. deen, and M. S. El-Raziky, "Improvement in Liver Stiffness in Pediatric Patients with Hepatitis C Virus after Treatment with Direct Acting Antivirals", The Journal of Pediatrics, 2021.
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El-karaksy, H. M., E. Mogahed, R. El-Sayed, M. El-Raziky, M. Sheba, M. Besheer, H. Elkiki, and H. Ghita, "Focal hepatic lesions in Egyptian infants and children: the pediatric hepatologist perspective.", Minerva pediatrica, vol. 70, issue 1, pp. 35-45, 2018. Abstract

BACKGROUND: Hepatic focal lesions in the pediatric age group are diverse and can be broadly classified into congenital, neoplastic and infective. The aim of this paper was to describe the frequency, nature and clinical presentation of focal hepatic lesions from a pediatric hepatologist perspective.

METHODS: Data were retrieved from files of all cases with focal hepatic lesions presenting to the Pediatric Hepatology Unit, Cairo University Pediatric Hospital, from January 2006 to December 2013, after the study protocol was approved by the department research committee and the institution ethical committee.

RESULTS: Over an 8-year period, 38 cases had focal hepatic lesions. They constituted less than 1% of the 4475 new cases presenting to the unit over this period. The commonest lesion was hepatic hemangioma(s) (34%). Two-thirds were neoplastic lesions whether benign or malignant. Eighty percent were benign focal lesions. Infectious causes (fascioliasis and pyogenic liver abscess) accounted for 29% of cases. Hepatocellular carcinoma was the commonest malignant neoplasm; it occurred in 5 cases (13.2%) on top of a chronic liver disease. Hepatoblastoma was less common.

CONCLUSIONS: From the hepatologist perspective, pediatric focal hepatic lesions are more likely to be benign. Hepatic hemangiomas are the commonest. Infectious causes are common in a developing country like Egypt. Hepatocellular carcinoma is the commoner malignant neoplasm and usually develops on a diseased liver. Screening infants and children with chronic liver disease for development of hepatocellular carcinoma is mandatory. Hepatoblastoma is less likely to present to the pediatric hepatologist as it is referred immediately to the oncologist or onco-surgeon.

El-Karaksy, H., E. A. Mogahed, H. Abdullatif, C. Ghobrial, M. S. El-Raziky, N. El-Koofy, M. El-Shabrawi, H. Ghita, sherif Baroudy, and Sawsan Okasha, Mona Isa, "Sustained Viral Response in Genotype 4 Chronic Hepatitis C Virus-infected Children and Adolescents Treated With Sofosbuvir/Ledipasvir.", Journal of pediatric gastroenterology and nutrition, vol. 67, issue 5, pp. 626-630, 2018. Abstract

OBJECTIVES: Recently, direct acting antivirals (DAAs), sofosbuvir (SOF) combined with ledipasvir (LED), were approved for treatment of hepatitis C virus (HCV)-infected children 12 years of age and older or weighting at least 35 kg for all HCV genotypes. The aim of this study was to assess the safety and efficacy of SOF/LED in genotype 4 HCV-infected Egyptian children and adolescents.

METHODS: This observational study included 40 consecutive HCV-infected children of age 12 to <18 years old or weighing >35 kg, both treatment-naive and treatment-experienced. All of the children were hepatitis B virus-negative and had normal renal functions and heart rate. Patients received oral, fixed-dose combination tablet of SOF/LED (400 mg SOF, 90 mg LED [Harvoni]) once daily for 12 weeks. Potential side effects were recorded at weeks 4, 8, and 12 weeks of treatment. The study primary outcome was sustained virological response 12 weeks (SVR12) after end-of-treatment.

RESULTS: The study included 40 children and adolescents, 24 were boys (60%); their age ranged between 11.5 and 17.5 years (mean 13.9 ± 1.5). Baseline viral load ranged between 9630 and 24,600,000 IU/mL. HCV RNA became negative in 39 patients (97.5%) at 4 weeks and in all patients (100%) at weeks 8, 12, and SVR12. Asthenia was the commonest side effect, reported in 52.5% followed by headache in 47.5%.

CONCLUSIONS: Treatment with all-oral DAAs (SOF/LED) for 12 weeks was well tolerated in Egyptian children and adolescents infected with genotype 4 HCV, with 100% SVR12 and negligible side effects.