The patient, a one-month-old male infant, was admitted for \"recurrent diarrhea for 20 + days and vomiting for 4 days\". On the 8th day after birth, the patient began to develop recurrent refractory diarrhea, accompanied by abdominal distension, vomiting, dehydration, acidosis, and malnutrition. There were many cases of malignant tumors of the digestive system in the patient\'s family. Genetic testing identified compound heterozygous mutations (c.491+1G>A; c.352_353ins CACC) in epithelial cell adhesion molecule (EpCAM) gene and the patient was hence diagnosed with congenital tufting enteropathy. The patient was given partial parenteral nutrition support. The patient\'s diarrheal symptom was improved, but it was difficult to increase the amount of formula because any increase in the amount of formula for the patient would inevitably result in abdominal distention and vomiting. The patient experienced repeated fever in the later period of hospitalization and was eventually discharged from the hospital with the family\'s signed consent. He still had diarrhea and vomiting after leaving the hospital. Four weeks after discharge, the patient lost about 1 kg of weight and eventually died.

Diarrhea is still appeared to be as one of the leading global killers and disability-adjusted life-years lost, particularly in the infant and children. As per WHO, about 88% of diarrhea-related deaths are attributable to unsafe water, inadequate sanitation and insufficient hygiene, mainly in developing world. Thus, the main objective of this study was to find out the risk of such factors that contribute for diarrhea-related infant mortality in Eastern Ethiopia.
This study employed community based unmatched nested case-control study design in Eastern Ethiopia. The cases were infants who died from diarrheal disease while controls were those who survived their first year of life from September, 2016 to August, 2018. A total of 305 study subjects (61 cases and 244 controls) were included in the study. Infants dying from diarrhea were compared to four neighborhood controls in terms of several risk components of Water, Sanitation and Hygiene. Data were collected from mothers/care takers of infants using pre-tested structured questionnaires, and entered onto CSpro version 5.1 and transform to SPSS version 23 to analyzed potential risk factors.
Finding of this study revealed that the risk factors that found to be significantly associated with infant death from diarrhoea after adjustment for confounding variables included the age of mother with < 20 years old (P = 0.009, AOR: 0.01, 95% CI: 0.01, 0.47), unsafe drinking water storage (P = 0.013, AOR: 0.4, 95% CI: 0.18, 0.81), infants in households without point-of-use water treatment practices (P = 0.004, AOR: 0.21, 95% CI: 0.08, 0.61), households with unimproved sanitation (P = 0.050, AOR: 0.36, 95% CI: 0.13, 1.00), unsafe disposing of child feces (P = 0.014, AOR: 0.34, 95% CI: 0.15, 0.81), and improper management of solid waste (P = 0.003, AOR: 0.29, 95% CI: 0.13, 0.66). These exposure factors had lower risk for the contribution of infants dying from diarrhoea than those with their reference group in the study area. However, infants in households with improper management of liquid waste management showed strongly significant association which had three times more likely to occur diarrhea-related infant death (P = 0.010, AOR: 3.43, 95% CI: 1.34, 8.76). Similarly, infants whose mother/caretaker practiced hand washing with less critical time (one-two occasions) had three times greater risk to infant death from diarrhea than those who had practice more than three critical times of hand washing (P = 0.027, AOR: 3.04, 95% CI: 1.13, 8.17).
This study suggests that infants in households with improper management of liquid waste and hand washing practices with fewer occasions (one-two critical time) are a greater risk of getting a diarrhea-related infant death. Therefore, efforts should be made to ensure intervention taking such risk factors into consideration, typically in the infantile period.

There has been a growing interest in the non-skeletal roles of vitamin D particularly its immune-modulatory properties which has been shown to influence the susceptibility and severity to infections. There is insufficient data globally on the association between Vitamin D levels and Diarrhoea in children. The objective of the study was to determine the association between vitamin D levels and diarrhoea in children aged less than five years.
Hospital based unmatched case-control study was carried out at MNH between September 2015 and January 2016. Cases were defined as patients with diarrhoea, Sick controls were patients who did not have diarrhoea but were admitted for other illnesses and Healthy controls were children who had neither diarrhoea nor other co-morbid conditions. Structured questionnaires were used to capture the demographic data and anthropometric measurements. Blood samples of study participants were tested for serum vitamin D levels and grouped as vitamin D sufficient, insufficient or deficient (VDD). SPSSv.20 was used to carry out the Statistical analysis. Binary logistic regression, Mann-Whitney and Kruskal-Wallis tests were used, a p-value≤ 0.05 was considered to be statistically significant.
A total of 188 children under five were recruited in the study at the ratio of 1 case: 3 controls, of these 47 were Cases, 94 were Sick controls and remaining 47 were Healthy controls. The mean age was 17.01 ± 14.8 months. The mean vitamin D level was 51.18 ± 21.97 nmol/l. Majority of the participants 101 (53.7%) were vitamin D deficient, 64 (34%) were insufficient and 23 (12.2%) had sufficient vitamin D levels. Sick controls were 3.2 times more likely to be VDD compared to cases [95% CI 0.14-0.69; p = 0.0015] and 5.03 times when compared to Healthy controls [95% CI 2.22-11.55; p = 0.000]. Severe acute malnutrition (SAM) was independently associated with diarrhoea (95% CI: 1.26-5.39, p 0.01).
High prevalence of vitamin D deficiency was found in the children under five years studied. Vitamin D levels was not found to be specifically associated with diarrhoea in children under five years of age.

Diarrheal diseases remain a leading cause of illness and death among children younger than 5 years in low-income and middle-income countries. The Global Enteric Multicenter Study (GEMS) has described the incidence, aetiology, and sequelae of medically attended moderate-to-severe diarrhoea (MSD) among children aged 0-59 months residing in censused populations in sub-Saharan Africa and south Asia, where most child deaths occur. To further characterise this disease burden and guide interventions, we extended this study to include children with episodes of less-severe diarrhoea (LSD) seeking care at health centres serving six GEMS sites.
We report a 1-year, multisite, age-stratified, matched case-control study following on to the GEMS study. Six sites (Bamako, Mali; Manhiça, Mozambique; Basse, The Gambia; Mirzapur, Bangladesh; Kolkata, India; and Bin Qasim Town, Karachi, Pakistan) participated in this study. Children aged 0-59 months at each site who sought care at a sentinel hospital or health centre during a 12-month period were screened for diarrhoea. New (onset after ≥7 diarrhoea-free days) and acute (onset within the previous 7 days) episodes of diarrhoea in children who had sunken eyes, whose skin lost turgor, who received intravenous hydration, who had dysentery, or who were hospitalised were eligible for inclusion as MSD. The remaining new and acute diarrhoea episodes among children who sought care at the same health centres were considered LSD. We aimed to enrol the first eight or nine eligible children with MSD and LSD at each site during each fortnight in three age strata: infants (aged 0-11 months), toddlers (aged 12-23 months), and young children (aged 24-59 months). For each included case of MSD or LSD, we enrolled one to three community control children without diarrhoea during the previous 7 days. From patients and controls we collected clinical and epidemiological data, anthropometric measurements, and faecal samples to identify enteropathogens at enrolment, and we performed a follow-up home visit about 60 days later to ascertain vital status, clinical outcome, and interval growth. Primary outcomes were to characterise, for MSD and LSD, the pathogen-specific attributable risk and population-based incidence values, and to assess the frequency of adverse clinical consequences associated with these two diarrhoeal syndromes.
From Oct 31, 2011, to Nov 14, 2012, we recruited 2368 children with MSD, 3174 with LSD, and one to three randomly selected community control children without diarrhoea matched to cases with MSD (n=3597) or LSD (n=4236). Weighted adjusted population attributable fractions showed that most attributable cases of MSD and LSD were due to rotavirus, Cryptosporidium spp, enterotoxigenic Escherichia coli encoding heat-stable toxin (with or without genes encoding heat-labile enterotoxin), and Shigella spp. The attributable incidence per 100 child-years for LSD versus MSD, by age stratum, for rotavirus was 22·3 versus 5·5 (0-11 months), 9·8 versus 2·9 (12-23 months), and 0·5 versus 0·2 (24-59 months); for Cryptosporidium spp was 3·6 versus 2·3 (0-11 months), 4·3 versus 0·6 (12-23 months), and 0·3 versus 0·1 (24-59 months); for enterotoxigenic E coli encoding heat-stable toxin was 4·2 versus 0·1 (0-11 months), 5·2 versus 0·0 (12-23 months), and 1·1 versus 0·2 (24-59 months); and for Shigella spp was 1·0 versus 1·3 (0-11 months), 3·1 versus 2·4 (12-23 months), and 0·8 versus 0·7 (24-59 months). Participants with both MSD and LSD had significantly more linear growth faltering than controls at follow-up.
Inclusion of participants with LSD markedly expands the population of children who experience adverse clinical and nutritional outcomes from acute diarrhoeal diseases. Since MSD and LSD have similar aetiologies, interventions targeting rotavirus, Shigella spp, enterotoxigenic E coli producing heat-stable toxin, and Cryptosporidium spp might substantially reduce the diarrhoeal disease burden and its associated nutritional faltering.
Bill & Melinda Gates Foundation.

BACKGROUND: Tricho-hepato-enteric syndrome (THES) is a rare disorder caused by mutations in the TTC37 or SKIV2L genes and characterized by chronic diarrhea, liver disease, hair abnormalities, and high mortality in early childhood due to severe infection or liver cirrhosis.
UNASSIGNED: The patient is the second child of three siblings born to non-consanguineous healthy Japanese parents. She had intrauterine growth retardation and was delivered at 33 weeks of gestation due to placental abruption. She presented with watery diarrhea, elevated levels of liver enzymes, multiple episodes of recurrent bacterial infection, and mild mental retardation. She had facial dysmorphism, including prominent forehead and hypertelorism, and had woolly hair without trichorrhexis nodosa.
METHODS: Clinical features led to consideration of THES. Novel compound heterozygous nonsense mutations, c.1420G>T (p.Q474*) and c.3262G>T (p.E1088*), in the SKIV2L gene were identified in the patient, and decreased levels of SKIV2L protein expression were revealed by flow cytometry and confirmed by western blot analysis using patient peripheral blood mononuclear cells (PBMCs).
METHODS: Total parenteral nutrition was required from day 30 to day 100. Trimethoprim-sulfamethoxazole prophylaxis was started at the age of 7 years after multiple episodes of bacterial pneumonia and otitis media.
RESULTS: Chronic diarrhea persisted for more than 10 years, but the symptoms gradually improved with age. At the age of 13 years, she started a normal diet in combination with oral nutritional supplementation and her height and weight were just below the 3rd percentile for healthy individuals. She developed secondary sex characteristics, and menarche occurred at the age of 12 years. Facial dysmorphism, including prominent forehead and hypertelorism, and woolly hair without trichorrhexis nodosa became noticeable as she matured.
CONCLUSIONS: Physicians must be aware of THES when they encounter a patient with infantile diarrhea, hair abnormalities, immune deficiency, mental retardation, and liver disease. Moreover, flow cytometric detection of SKIV2L protein in PBMCs may facilitate early diagnosis.

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Congenital diarrheal disorders are a group of rare enteropathies that often present with life-threatening diarrhea in the first weeks of life. Enteric anendocrinosis, characterized by a lack of intestinal enteroendocrine cells due to recessively inherited mutations in the Neurogenin-3 (NEUROG3) gene, has been described as a cause of congenital malabsorptive diarrhea. Diabetes mellitus also is typically associated with NEUROG3 mutations, be it early onset or a later presentation. Here we report a case of a 16-year-old male patient with severe malabsorptive diarrhea from birth, who was parenteral nutrition dependent and who developed diabetes mellitus at 11 years old. To the best of our knowledge, only 9 cases of recessively inherited NEUROG3 mutations have been reported in the literature to date. Our patient presents with several remarkable differences compared with previously published cases. This report can contribute by deepening our knowledge on new aspects of such an extremely rare disease.

BACKGROUND: Microvillous inclusion disease (MVID) is one of the most severe congenital diarrhea disorders, caused by a genetic defect in enterocyte differentiation and polarization.
METHODS: We describe a neonate who presented with severe weight loss, hypernatremic dehydration and metabolic acidosis due to intractable diarrhea due to MVID, confirmed by electron microscopy.
CONCLUSIONS: MVID can present with severe weight loss, hypernatremic dehydration and metabolic acidosis that is life threatening. The diagnosis is made by typical findings on light microscopy and electron microscope of small bowel biopsies. The only therapeutic options at this time are total parenteral nutrition and bowel rest and intestinal transplantation.

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