Gaucher’s disease: Report of 11 cases with review of literature

Gaucher's disease (GD) is a lysosomal storage disorder due to  glucocerebrosidase deficiency; it's one of the rare genetic diseases for which therapy is now available. The purpose of this work is to study the epidemiological features of the disease and to highlight the diagnostic difficulties. We performed an 11-year retrospective study of 11 patients with GD followed-up in the department of paediatric hepatology  gastroenterology and nutrition of Rabat children's Hospital. We observed 11 patients with GD: 6 males and 5 females. Age at onset ranged from 3 months to 10 years with an average of 3.41 years. Mean age at diagnosis was 4 years (range 3months-14years).Parental consanguinity was noted in 85% cases. According to the clinical presentation, we classified our patients into: 9 cases of type 1 (81%) and two cases of type 2 (19%), none of the patients presented GD type 3. GD type 1: The age at diagnosis ranged from 2 years to 14 year with an average of 6 years. Main symptoms were:splenomegaly, hepatomegaly , pallor, haemorrhagic appearance (40%), bone pain (40%). The diagnosis was based on histology showing the Gaucher's cells in various tissues (100%). Enzymatic activity dosage  confirmed the diagnosis of GD for 4 patients (44.5%). The treatment wasalways symptomatic (analgesics, transfusion). A splenectomy was  performed in one case presenting with multiple splenic abscesses and hightransfusion requirements. None of the patients received a specific  treatment (substitutive enzymotherapy). The follow-up period ranged from 3 months to 6 years with an average follow-up of 4 years. We noticed  stability in 4 cases, 2 worsening cases with bone and spleen complications.Three patients were lost to follow-up. GD type 2: we observed two cases of GD type 2 diagnosed at 3 and 18 months. The visceral symptoms wereserious and the neurological features included seizures, hypertony, squint, physical developmental milestones delay. Both of them died. Gaucher'sdisease is not exceptional in Morocco. Type 1 is the most common type. We noted through this study some diagnostic difficulties as the diagnosiswas delayed and the enzymatic dosage was performed in only 42% of the cases as well as therapeutic difficulty with no prescription of the specifictreatment given the high cost of the enzyme

Prevention of Childhood Obesity: A Position Paper of the Global Federation of International Societies of Paediatric Gastroenterology, Hepatology and Nutrition (FISPGHAN)

Global childhood obesity increased more than 8-fold over 40 years, inducing a very large personal, societal, and economic burden. Effects of available treatments are less than satisfactory; therefore, effective prevention is of high priority. In this narrative review, we explore preventive opportunities. The available evidence indicates large benefits of improving nutrition and lifestyle during early life, such as promoting breast-feeding and improving the quality of infant and early childhood feeding. Promoting healthy eating patterns and limiting sugar-containing beverage consumption from early childhood onwards are of great benefit. Regular physical activity and limited sedentary lifestyle and screen time alone have limited effects but are valuable elements in effective multicomponent strategies. The home environment is important, particularly for young children, and can be improved by educating and empowering families. School- and community-based interventions can be effective, such as installing water fountains, improving cafeteria menus, and facilitating regular physical activity. Reducing obesogenic risk factors through societal standards is essential for effective prevention and limiting socioeconomic disparity; these may comprise food, drink, and physical activity standards for day cares and schools, general food quality standards, front-of-pack food labeling, taxation of unhealthy foods, restriction of food advertisements to children, and others. Effective prevention of childhood obesity is not achieved by single interventions but by integrated multicomponent approaches involving multiple stakeholders that address children, families, and societal standards. Pediatricians and their organizations should be proactive in supporting and empowering families to support their children's health, and in promoting societal measures that protect children

Early childhood obesity: a survey of knowledge and practices of physicians from the Middle East and North Africa

BACKGROUND: Childhood obesity is one of the most serious public health issues of the twenty-first century affecting even low- and middle-income countries. Overweight and obese children are more likely to stay obese into adulthood. Due to the paucity of data on local practices, our study aimed to assess the knowledge and practices of physicians from the Middle East and North Africa region with respect to early-onset obesity. METHODS: A specific questionnaire investigating the perception and knowledge on early-onset obesity was circulated to healthcare providers (general physicians, pediatricians, pediatric gastroenterologist, neonatologists) practicing in 17 Middle East and North African countries. RESULTS: A total of 999/1051 completed forms (95% response) were evaluated. Of all respondents, 28.9% did not consistently use growth charts to monitor growth during every visit and only 25.2% and 46.6% of respondents were aware of the correct cut-off criterion for overweight and obesity, respectively. Of those surveyed, 22.3, 14.0, 36.1, 48.2, and 49.1% of respondents did not consider hypertension, type 2 diabetes, coronary heart disease, fatty liver disease, and decreased life span, respectively, to be a long-term complication of early childhood obesity. Furthermore, only 0.7% of respondents correctly answered all survey questions pertaining to knowledge of early childhood overweight and obesity. CONCLUSION: The survey highlights the low use of growth charts in the evaluation of early childhood growth in Middle East and North Africa region, and demonstrated poor knowledge of healthcare providers on the short- and long-term complications of early-onset obesity. This suggests a need for both continued professional education and development, and implementation of guidelines for the prevention and management of early childhood overweight and obesity

A rare cause of neonatal diarrhoea: Microvillositary inclusion disease: about a case report

Microvillositary inclusion disease also known as microvillositary atrophy is a rare congenital enteropathy containing a border abnormality in the brushes of enterocytes, manifesting as severe rebellious diarrhea in newborns and infants. It was first described in 1978 by Davidson, et al. The autosomal recessive mode of transmission is suggested because of the frequency of familial cases and inbreeding. Histopathology plays an essential role in establishing the diagnosis. In 2008, a common mutation was identified in most of the patients studied in the MYO5B gene that codes for the Myosin Vb protein, which helped in understanding the etiopathogeny of this pathology poorly described in the literature. The prognosis for this pathology is extremely bleak, requiring total parenteral nutrition for child survival. Intestinal transplantation is for the moment the only long-term solution. Materials and methods: We report the case of an infant aged 6 months, with no perinatal antecedent. There is 1st degree consanguinity, the mother has a history of deaths in younger siblings in undetermined circumstances. Who since the age of 3 days presents profuse liquid diarrhoea with malnutrition, dehydration and enormous abdominal distension? Several diagnoses were suspected before the jejune biopsy was carried out, which led to the diagnosis of a microvilliositary inclusion disease. The aim of our work is to highlight the rarest cause of neonatal rebel diarrhoea and to know how to include it among other differential diagnoses

Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove syndrome: a case report

Abstract Background Allgrove syndrome is a rare autosomal recessive disorder characterized by the triad of achalasia, alacrimia and adrenal insufficiency. It is caused by the mutations of the AAAS gene located on chromosome 12q13. The c.1331 + 1G > A mutation is one of the most common described in North Africa including Tunisia, Algeria and Libya. We report here the clinical and genetic profile of a Moroccan family with Allgrove syndrome. Case presentation A Moroccan sister and brother born to consanguineous parents were found, at the ages of twelve and fifteen months old respectively, to have alacrimia and isolated glucocorticoid deficiency. Later, they developed achalasia whereupon Allgrove syndrome was diagnosed clinically and confirmed by DNA sequencing which revealed a c.1331 + 1G > A mutation in the AAAS gene. Conclusion This finding reinforces previous studies in demonstrating the geographic expansion of the ancestral mutation c.1331 + 1G > A in North African patients and thus enabling targeted genetic counseling. To the best of our knowledge, this is the first report of the AAAS gene mutation in Moroccan patients

The effect of fermented milk on interferon production in malnourished children and in anorexia nervosa patients undergoing nutritional care

For several years cytokine production has been associated with infections but it was not suspected that some types of food could also induce cytokines, even in a state of non-infection. Lactic bacteria can induce interferon (IFN) production in human healthy subjects, thus, a better protection against infections would be expected. Therefore, we planned to evaluate the effect of two diets including yoghurt or milk on IFN-γ production during nutritional recovery in two different situations of malnutrition: (1) children with diarrhoea; and (2) patients with anorexia nervosa (AN). Both the diet including yoghurt of that including milk seemed to increase IFN-γ production at the end of nutritional recovery in the malnourished children with diarrhoea. The significance of interferon production and the lymphocyte subset increase should be explored to know if a better resistance against pathogens is related to them. Regulation of intestinal absorption and moderate stimulation of interferon production make the yoghurt-based diet a good choice in the nutritional care of children. In the same way, an increase in the IFN-γ production was observed in AN patients consuming yoghurt. This increase of IFN-γ production could be considered a biological marker to detect the effect of probiotics on the immune response, especially in the improvement of a deficient nutritional status.These studies have been funded by EU within the STD3 programme ‘Life Science and Technologies for Developing Countries’, under the title ‘Effect of the consumption of fermented milks on the immunocompetence of well- and malnourished subjects’.Peer reviewe