Alström syndrome: A novel mutation in Saudi girl with insulin-resistant diabetes.

RATIONALE: Alström syndrome is an autosomal recessive disorder characterized by hearing loss, blindness, obesity, non-insulin dependent diabetes, and others. PATIENT CONCERN: A 10 years old Saudi girl, who presented with diabetic ketoacidosis and found to have hearing loss and blindness. DIAGNOSIS: Alström syndrome. INTERVENTIONS: Multidisciplinary team approach, with echocardiography, hearing test, eye exam and genetic test for Alström syndrome. OUTCOMES: The patient has retinitis pigmentosa, bilateral hearing loss, double diabetes with weakly positive anti-insulin antibodies and DNA analysis showed novel mutation for Alström syndrome. LESSONS: the combination of obesity, diabetes, hearing loss and blindness should alert the physician to test for Alström syndrome.

Folic Acid Intake and Neural Tube Defects: Two Egyptian Centers Experience.

Neural tube defects (NTDs) are a group of congenital malformations with worldwide distribution and complex etiopathogenesis. Folic acid plays a pivotal role in their prevention. We aimed to identify the protective effect of folic acid intake against NTDs and its dependence on different socioeconomic and environmental factors in a cohort of mothers in Egypt. A cross-sectional study was carried over a period of 12 months on mothers who gave birth to babies with NTDs (group 1) and a control group with healthy offsprings (group 2). Both groups completed 2 questionnaires: food frequency questionnaire targeting the daily folate intake, and socioeconomic status and medical history questionnaire. Both groups of mothers received folate <800 µg/day, recommended for pregnant women. A strong association was detected between NTDs and urban residency with medium educated mothers, with negative consanguinity, who had folate intake < 400 µg daily, and who had their food long cooked. Each of these factors separately had a limited impact to cause NTDs, but when present together they did augment each other. Interestingly enough is the role of fava bean, cauliflower, spinach, and mango in predisposing of NTDs in the presence of the above-mentioned factors. The protective effect of folic acid intake against NTDs may depend on the synergism of different socioeconomic and environmental factors (which differ from country to another). In Egypt, females especially the medium-educated who live in urban areas should be well-informed with the value of folate intake in the periconceptional period.

Acute lymphoblastic leukemia: are Egyptian children adherent to maintenance therapy?

UNLABELLED: BACKGROUND, AIMS, SETTINGS AND DESIGN: Poor adherence to oral maintenance chemotherapy can cause relapse of acute lymphoblastic leukemia (ALL). A multicenter study for the evaluation of adherence to oral 6-mercaptopurine (6-MP) maintenance chemotherapy for childhood ALL in Egypt to identify contributing factors and possible steps to promote adherence. MATERIALS AND METHODS: The study included 129 children with ALL in complete remission receiving 6-MP single daily oral dose in the evening. Evaluation was done through specific questionnaires for the patients as well as serum 6-MP measurements. RESULTS: Nonadherence was detected in around 56% by questionnaires and around 50% by serum 6-MP level measurement. There was a highly significant correlation between nonadherence as found by the questionnaire and 6-MP level (P - 0.001). Nonadherence was significantly associated with low socioeconomic standard, noneducation and low educational level and large family size by both methods. High cost to come for follow-up visits was significant by questionnaire but not by 6-MP measurement. Adolescent age, the higher number of siblings, lack of written instructions, long time spent per visit, were all associated with higher rates of nonadherence, although none reached statistical significance. CONCLUSIONS: Nonadherence is a real problem in pediatric patients. Specific questionnaires can be an excellent reliable method for the routine follow-up of these children, and drug level assay can be requested only for confirmation. This protocol is especially effective in developing countries where financial resources may be limited. Every effort should be made to uncover its true incidence, contributing factors, and best methods of intervention.

Entomophthoromycosis: a challenging emerging disease.

Entomophthoromycosis is a rare fungal infection that may affect immunocompetent hosts; predominantly in tropical and subtropical regions. Recently, the importance of this emerging mycosis has increased and the scope of its manifestations has been expanded. These manifestations; however, may masquerade as other clinical entities. Prompt diagnosis of this infection requires a high index of suspicion. Although histopathological examination and cultures are the gold standard diagnostic tools; molecular diagnosis is now available and started to play an important role. The cornerstone treatment is prolonged anti-fungal therapy along with surgical debridement. More awareness of this mycosis is warranted for definitive diagnosis and implementation of early proper therapeutic strategies.

Diagnosis of gastrointestinal basidiobolomycosis: a mini-review.

Basidiobolus ranarum (Entomophthoromycotina) very rarely affects the gastrointestinal (GI) tract. To date, reported paediatric GI basidiobolomycosis cases are 27 worldwide; 19 from Saudi Arabia and 8 from other parts of the world. Often these cases present a diagnostic dilemma, are prone to misdiagnosis and lack of disease confirmation by proper molecular methodologies. The fungal mass removed by surgery is usually sent for conciliar histopathology, isolation by fungal cultures and final molecular testing for basidiobolomycosis. The incidence of basidiobolomycoses, their predisposing factors and the molecular diagnosis of the fungus causing the disease in combination with a phylogenetic framework are reviewed.

Serum superoxide dismutase activity in acute and chronic paediatric liver diseases.

BACKGROUND AND STUDY AIMS: Measuring serum superoxide dismutase (SOD) levels in infants and children having acute or chronic liver disease of different aetiologies, and correlating these levels with disease aetiology in an attempt to clarify the role of SOD as an antioxidant in these diseases. PATIENTS AND METHODS: We prospectively enrolled 58 infants and children and divided them into four groups: Group I, 24 patients with surgical cholestasis; group II, 11 patients with medical cholestasis; group III, nine patients with autoimmune chronic hepatitis; and group IV, 14 patients with viral hepatitis. Forty healthy age- and sex-matched children served as controls. Serum SOD activity was measured in all patients and controls using spectrophotometry. RESULTS: The level of SOD showed a statistically significant increase in patients with medical cholestasis compared to healthy controls (p<0.0001). SOD activity of other groups showed no significant difference compared to controls. CONCLUSIONS: Significantly increased serum SOD in infants and children with medical cholestasis is probably consequent to its increase in liver tissue in response to the liberation of reactive oxygen species. This suggests that products of free radical reactions might be involved in the pathogenesis and/or progression of medical cholestasis, and that SOD might attempt to minimise the liver injury.

Burden of pediatric hepatitis C.

Hepatitis C virus (HCV) is a major health burden infecting 170-210 million people worldwide. Additional 3-4 millions are newly-infected annually. Prevalence of pediatric infection varies from 0.05%-0.36% in the United States and Europe; up to 1.8%-5.8% in some developing countries. The highest prevalence occurs in Egypt, sub-Saharan Africa, Amazon basin and Mongolia. HCV has been present in some populations for several centuries, notably genotypes 1 and 2 in West Africa. Parenteral anti-schistosomal therapy practiced in the 1960s until the early 1980s had spread HCV infection throughout Egypt. Parenteral acquisition of HCV remains a major route for infection among Egyptian children. Insufficient screening of transfusions, unsterilized injection equipment and re-used needles and syringes continue to be major routes of HCV transmission in developing countries, whereas vertical transmission and adolescent high-risk behaviors (e.g., injection drug abuse) are the major routes in developed countries. The risk of vertical transmission from an infected mother to her unborn/newborn infant is approximately 5%. Early stages of HCV infection in children do not lead to marked impairment in the quality of life nor to cognitive, behavioral or emotional dysfunction; however, caregiver stress and family system strain may occur. HCV slowly progresses to serious complications as cirrhosis (1%-2%) and hepatocellular carcinoma (HCC) especially in the presence of risk factors as hemolytic anemias, obesity, treated malignancy, and concomitant human immune deficiency and/or hepatitis B virus co-infection. HCV vaccine remains elusive to date. Understanding the immune mechanisms in patients who successfully cleared the infection is essential for vaccine development. The pediatric standard of care treatment consists of pegylated interferon-α 2a or b plus ribavirin for 24-48 wk. The new oral direct acting antivirals, approved for adults, need further evaluation in children. Sustained virologic response varies depending on the viral load, genotype, duration of infection, degree of aminotransferase elevation, adiposity and single nucleotide polymorphisms of interleukin (IL)-28B locus. The goals of treatment in individual patients are virus eradication, prevention of cirrhosis and HCC, and removing stigmatization; meanwhile the overall goal is decreasing the global burden of HCV. IL-28B polymorphisms have been also associated with spontaneous clearance of vertically acquired HCV infection. The worldwide economic burden of HCV for children, families and countries is estimated to be hundreds of millions of US dollars per year. The United States, alone, is estimated to spend 199-336 million dollars in screening, monitoring and treatment during one decade. The emotional burden of having an HCV infected child in a family is more difficult to estimate.

Diarrhea in neutropenic children with cancer: An Egyptian center experience, with emphasis on neutropenic enterocolitis.

BACKGROUND: Diarrhea is a frequent complication in children with cancer who received intensive chemotheraputic regimens. It may be caused by several factors, neutropenic enterocolitis (NE) being the most serious. AIM: To study diarrhea in neutropenic cancer patients in the pediatric age group, with its underlying etiologies and risk factors, especially the bacterial causes, with special concern on NE. MATERIALS AND METHODS: This study was carried out at the Pediatric Hematology and Oncology Units, Zagazig University Hospitals, Egypt, from January 2009 to September 2010. All children with malignant diseases who are ≤12 years of age were included. Patients who were neutropenic (<500/ mm(3)) on admission or who became neutropenic during their stay in the hospital were monitored regularly (daily) for diarrhea. Neutropenic cancer patients with diarrhea were grouped into two groups: Group 1, with NE, and group 2, with neutropenic diarrhea rather than NE. On the first day of diarrhea, patients were subjected to complete blood count, blood cultures, stool microscopy and culture. Abdominal ultrasonography was carried out within 3 days of diarrhea. RESULTS: A total of 200 children ≤12 years old, suffering from different malignancies, with a total of 180 neutropenic episodes were followed. Diarrhea was observed in 100 episodes (55.5%). NE constituted 16% of these diarrheal episodes. All patients with NE had significantly more severe neutropenia, and this was of longer duration than the other group. All patients with NE were febrile, with 100% positive blood culture. Stool analysis diagnosed giardiasis in 4.8% of the non-NE patients and in none of the NE patients, while stool culture was positive in 75% of the NE patients compared with 40.5% of the other group. CONCLUSIONS: Diarrhea is a common complication in neutropenic cancer children. Gram negative bacteria and Candida are the most incriminated pathogens. Duration and severity of neutropenia carry a great risk for the development of NE.

Benign intrascrotal lipoblastoma in a 4-month-old infant: a case report and review of literature.

Lipoblastomas are rare benign soft tissue tumors that occur primarily in young children. Most lipoblastomas occur in the extremities, trunk, head, and neck. An intrascrotal location is unusual. We describe a case of a 4-month-old infant with an intrascrotal lipoblastoma and discuss the differential diagnosis and review the literature.

Gastrointestinal basidiobolomycosis: an emerging fungal infection causing bowel perforation in a child.

Basidiobolomycosis is an unusual fungal skin infection that rarely involves the gastrointestinal (GI) tract. We report a 10-year-old boy diagnosed as suffering GI basidiobolomycosis after being misdiagnosed first as suffering intestinal malignancy then schistosomiasis. The patient presented with fever, abdominal pain, vomiting, abdominal tenderness and rigidity with marked blood eosinophilia. Abdominal ultrasonographic and computed tomographic scans revealed a large caecal mass. Biopsy of the mass showed transmural granulomatous inflammation interpreted as schistosomal granuloma, ruling out lymphoma. The patient's condition deteriorated despite anti-schistosomal therapy. Emergency surgery was then performed, and caecal perforation was found. The mass was excised; cultures were negative and histopathological examination was suggestive of schistosomal granuloma. The mass recurred 3 weeks post-operatively. Second-opinion histopathological examination diagnosed Basidiobolus ranarum infection. Treatment with itraconazole produced marked improvement, with diminution of the mass. B. ranarum was unequivocally identified in the archival formalin-fixed and paraffin-embedded (FFPE) tissue by PCR. This case emphasizes the need to consider GI basidiobolomycosis in children presenting with fever, abdominal mass and eosinophilia, especially those complicated by bowel perforation.

Gastrointestinal basidiobolomycosis in children: an overlooked emerging infection?

Basidiobolus ranarum is a known cause of chronic subcutaneous zygomycosis. During the past decade, many cases have been reported with extracutaneous basidiobolomycosis. We aimed to review the medical literature on gastrointestinal basidiobolomycosis (GIB) as an emerging fungal infection causing a serious, and occasionally fatal, paediatric disease. We reviewed all reported cases of visceral basidiobolomycosis with special focus on the gastrointestinal involvement in children. Twenty-six cases of GIB have been reported worldwide, in 14 adults and 12 children. All cases presented with fever, abdominal pain with mass and high blood eosinophilia and were misdiagnosed as other chronic granulomatous diseases or malignancies. A few cases of retroperitoneal, pulmonary, nasal and disseminated basidiobolomycosis have also been reported. Basidiobolomycosis mostly affects young males as a subcutaneous infection. The visceral form of infection is rare. GIB has been scarcely reported in the medical literature, but recently it has been increasingly recognized. GIB poses diagnostic difficulties. Abdominal pain with mass and eosinophilia were present in all cases, highlighting the necessity of considering GIB in the differential diagnosis of this presentation. B. ranarum has been reported to cause disseminated fatal disease in both immune-competent and -compromised individuals. Culture is the gold standard for diagnosis, but the characteristic histopathological picture of chronic granulomas rich in eosinophils and the Splendore-Hoeppli phenomenon are the usual diagnostic tools. Surgery plus long courses of itraconazole treatment, up to 1 year, appear to be the best management options. GIB is an emerging infection that might lead to diagnostic confusion, morbidity and mortality. Diagnosis requires a high index of suspicion in the differential diagnosis of patients with fever, abdominal pain with mass and eosinophilia.