Acute abdominal pain localized in right iliac fossa: Not always acute appendicitis. A case of giant hydronephrosis in an 8-year-old boy and literature overview.

Abdominal pain is a frequent complaint in children, leading them to seek medical attention. It can have several causes, though acute appendicitis is the most feared diagnosis when pain is localized in the right iliac fossa. We report a case of an 8-year-old boy with the complaint of acute abdominal pain, initially referred by his family doctor to a radiologist for an abdominal ultrasound (US) for suspected acute appendicitis. A fortuitous diagnosis of giant hydronephrosis (GH) was made upon admission, which showed the palpation of a huge poorly delineated abdominal mass that was probably missed at the previous examination by the general physician (GP). Uroscan confirmed the diagnosis of GH secondary to obstruction at the ureteropelvic junction. A renal MAG3 (mercaptuacetyltriglycine) scan showed revealed differential renal function (15%) on the right side, normal on the left side. Robot-assisted right pyeloplasty with the transposition of right lower polar vessels via trans-peritoneal laparoscopy was performed, and JJ probe left in-situ for a month. The boy is doing well and is under active follow-up. GH is rare; its diagnosis requires both meticulous examination and a high index of suspicion. Its management is uncodified but in children, pyeloplasty is preferred to nephrectomy.

Atypical hematological manifestation of celiac disease: A case report of aplastic anemia in a 2-year-old child and review of the literature.

INTRODUCTION: Celiac disease typically presents with symptoms of malabsorption, but extraintestinal manifestations are increasingly reported. Aplastic anemia as the mode of celiac disease presentation is extremely rare in children. CASE PRESENTATION: We report a 2-year-old boy who presented with loose stools, loss of appetite, and bicytopenia with severe aregenerative normocytic anemia. Investigations, including bone marrow aspirate and biopsy, revealed aplastic anemia. Screening for malabsorption showed increased plasma concentrations of anti-transglutaminase and anti-gliadin antibodies. A duodenal biopsy confirmed the histologic features of celiac disease. The child received a packed red cell transfusion and was started on a gluten-free diet, with a very good prognosis and normalization of both his blood and histological parameters. To the best of our knowledge, our report is the sixth pediatric case in the literature. CONCLUSION: Screening for celiac disease should be performed in children with unexplained hematological abnormalities such as aplastic anemia with or without gastrointestinal symptoms.

Type 1 diabetes mellitus in Gabon: A study of epidemiological aspects.

BACKGROUND AND OBJECTIVE: Type 1 diabetes mellitus (T1DM) is the most frequent endocrinopathy in children. Its replacement therapy requires insulin, without which, death is inevitable. This treatment is expensive and a financial burden for diabetic children and their families, especially in Africa.In the absence of a national T1DM register, the purpose of this study was to describe epidemiological aspects of type 1 diabetes in children in Gabon, specify the difficulties met by the patients during the follow-up and identify factors explaining poor therapeutic observance and metabolic control. MATERIAL AND METHODS: Prospective transversal monocentric study. Data were firstly extracted from the registers of the Endocrinology Department of the University Hospital of Libreville (CHUL), Gabon, between 2010 and 2017.Secondly, patients were interviewed by telephone about the availability and cost of insulin, their self-monitoring of blood glucose, and diet. RESULTS: 306 patients (154 girls and 152 boys) were diagnosed with T1D during the study period and followed-up in the Endocrinology Department at CHUL. Mean age at diagnosis was 17 ±â€¯7 years (5% of patients were over 5 years of age, 30% were >20 years old). Mean follow-up period was 4.0 ±â€¯2.0 years. 16% of the patients were hospitalized at least 2 times per month for ketoacidosis.Hospital mortality was about 7%. Number of factors linked with poor therapeutic observance (high cost of treatment, lack of patients' therapeutic education, etc.) were identified. CONCLUSION: T1D prevalence is constantly increasing worldwide, but at slower pace in Africa in comparison to developed countries. Difficulties to access to high standard care and population poverty in Sub-Saharan Africa, represents a major independent factor of poor therapeutic observance.

Growth screening in children aged 3-5 years: a useful tool for public health programs in community pediatrics.

Background About 90% of children grow up normally and attain a final height within their genetic target. In children with intrauterine growth restriction (IUGR), up to 10% will not catch up spontaneously. Turner syndrome is often diagnosed late, and a number of growth-stunted children go undiagnosed and untreated. Objectives Our primary aim was to evaluate the prevalence of stunted growth in preschool-aged children. Our secondary aim was to evaluate growth patterns in children belonging to four ethnic groups in Dreux district, France. Methods Body weight, height and body mass index (BMI) were collected for children aged 3-5 years during systematic community visits. Birth variables, family history of short stature, maternal smoking, ethnic origin, etc. were also recorded. Pubertal status was staged as per Tanner's method. Parents were instructed to attend the hospital growth clinics if their child's height was <-2.0 standard deviation score (SDS). Results Five hundred ninety-three children were screened (301 boys, 289 girls). The mean age was 4.33 ± 0.76 standard deviation (SD) years, and 48% were Caucasians, 13.7% were North Africans, 2.5% were Black Africans, 0.8% were Asians, 1.5% included others and the ethnicity was not specified in 33.5% of the cases. 91.5% of children were term-born and 8.5% were preterm. 84.2% of children were appropriate for gestational age (AGA) and 9.4% were small for gestational age (SGA). At 5 years of age, 22.2% of macrosomic North African children were overweight. Catch-up growth was complete in 98% children, 11/540 were short statured, 8/11 attended our growth clinics (seven short statured and one micropenis) and three were started on recombinant human growth hormone (rhGH). Conclusions Growth screening programs are important and useful tools for public health. There is a need for clear objectives, proper training and automated data collection tools, along with easy access to growth specialists.

Spontaneous neonatal renal vein thromboses: Should we treat them all? A report of five cases and a literature review.

Renal vein thrombosis (RVT) is a rare but well-known neonatal entity for which several therapeutic modalities are reported in the literature because of the lack of consensus management guidelines. POPULATION AND METHODS: A retrospective study of the medical records of children managed between January 1990 and December 2013, and whose final diagnosis was RVT. The diagnosis was initially clinical and subsequently confirmed by the abdominal ultrasonography (AUS) and Doppler imaging if necessary. The abdominal CT scan was performed when the AUS finding led to the suspicion of RVT extension to the inferior vena cava (IVC). Each patient's birth parameters (birth weight [BW], birth length [BL], and head circumference [HC]) and modalities were recorded. The treatment modalities, the outcome at follow-up along with results of etiological screening were also recorded. RESULTS: Five newborn infants were diagnosed as having unilateral RVT at the mean postnatal age of 3.8 days (range, 1-11 days). All presented with a classical triad associated nephromegaly, thrombocytopenia, and gross hematuria. Two patients had genetic thrombophilic risk factors (1 heterozygous Leiden factor V mutation in case 4, and Activated Protein C resistance in case 5). Two infants were managed conservatively, and the other three received antithrombotic treatment (recombinant tissue plasminogen activator and heparin). All five patients had a similar course, leading to non-functioning renal atrophy, despite aggressive thrombolytic therapy or conservative treatment. CONCLUSION: We suggest that simple unilateral RVT be managed conservatively, while antithrombotic therapy may be attempted for unilateral RVT extending into the inferior vena cava and for bilateral RVT.

Polycystic pancreatic disease associated with pineal cyst in an adolescent: a case report and literature overview.

Pancreatic polycystosis is one of rare causes of recurrent abdominal pain of pancreatic origin in children frequently associated with other organ's cysts which are to be searched. Association with pineal cyst is exceptional, and link between the two locations is to be elucidated. MRI is highly valuable to characterize cysts.

Polycystic ovary syndrome: Pelvic MRI as alternative to pelvic ultrasound for the diagnosis in overweight and obese adolescent girls.

BACKGROUND: Polycystic ovary syndrome (PCOS) is a common reproductive endocrinopathy in women of childbearing age, affecting 5-15% women in this age group. Suggestive cardinal features comprise hyperandrogenism, ovulatory dysfunction and/or polycystic ovary appearance. The gold standard radiological tool is the pelvic ultrasound (PUS) whose yield may be limited in overweight and obese adolescent girls. OBJECTIVE AND HYPOTHESES: To evaluate the contribution of pelvic MRI to the diagnosis of PCOS in a specific group of virginal overweight and obese adolescent girls. METHOD: Eight adolescent girls seen for menstrual irregularities or amenorrhea, with features of hyperandrogenism were biochemically screened (LH, FSH, testosterone, S-DHEA, delta-4 androstenedione, 17 (OH) P, SHBG, TSH, free T4, prolactin and lipid profile, fasting blood sugar and HOMA-IR and HOMA-B). Each had PUS and/or pelvic MRI (PMRI) performed. Other causes of hyperandrogenism were excluded. IMAGING: PUS with the trans-abdominal transducer was attempted in only one patient Acuson© scanner, using 3.5-7.5 MHz transducer; PMRI was performed in all patients with phased array coil of 1.5 T Siemens MRI scanner, with T1 and T2-weighted axial and coronal images. PCOS was defined according to the Rotterdam PCOS consensus Workshop. RESULTS: Eight girls (mean age 14,6 ± 1.47 years) are reported, one was overweight (BMI Z-score > 1 SDS), seven others were obese (BMI Z-score > 2 SDS). Mean age at menarche was 11.58 ± 1.11 years, except for one who had not yet entered menarche. All had menstrual irregularities, acanthosis nigricans, acne, hirsutism, and biochemical characteristics of PCOS (high plasma androgens, insulin resistance, glucose/insulin ratio <4.5, decreased SHBG).PUS was not contributive to the diagnosis of PCOS, whereas PMRI showed typical aspect (well delineated peripheral ovarian cysts), with increased ovarian volume and stroma. CONCLUSION: Although PUS remains the gold standard for the diagnosis of PCOS in most cases, its limitations in overweight and obese girls are real and must be considered.If utilization of endovaginal transducer not being feasible in young virginal girls, PMRI could be a useful alternative, allowing greater delineation of structural components of the ovary and better appreciation of both its volume and structural alterations.

Streptococcus pneumoniae serotype 19A meningitis in well-vaccinated immunocompetent 13-month-old child: a case of PCV13 failure.

We report a 13-month-old immune-competent male child who was diagnosed with pneumococcal serotype 19A meningitis despite having received three PCV13 injections. Clinicians are reminded that bacterial meningitis can still occur, even in correctly vaccinated children. Investigations should include immune system screening along with abdominal ultrasound to exclude asplenia.

Pseudohypoparathyroidism Type 1A-Subclinical Hypothyroidism and Rapid Weight Gain as Early Clinical Signs: A Clinical Review of 10 Cases.

OBJECTIVE: To evaluate the clinical signs and symptoms that would help clinicians to consider pseudohypoparathyroidism (PHP) type 1A as a diagnosis in a child. METHODS: A retrospective review of the medical records of children diagnosed by erythrocyte Gsα activity and/or GNAS1 gene study and followed-up for PHP type 1A. Clinical and biochemical parameters along with epidemiological data were extracted and analyzed. Weight gain during infancy and early childhood was calculated as change in weight standard deviation score (SDS), using the French growth reference values. An upward gain in weight ≥0.67 SDS during these periods was considered indicative of overweight and/or obesity. RESULTS: Ten cases of PHP type 1A were identified (mean age 41.1 months, range from 4 to 156 months). In children aged ≤2 years, the commonest clinical features were round lunar face, obesity (70%), and subcutaneous ossifications (60%). In older children, brachydactyly was present in 60% of cases. Seizures occurred in older children (3 cases). Short stature was common at all ages. Subclinical hypothyroidism was present in 70%, increased parathormone (PTH) in 83%, and hyperphosphatemia in 50%. Only one case presented with hypocalcemia. Erythrocyte Gsα activity tested in seven children was reduced; GNAS1 gene testing was performed in 9 children. Maternal transmission was the most common (six patients). In three other cases, the mutations were de novo, c.585delGACT in exon 8 (case 2) and c.344C>TP115L in exon 5 (cases 6&7). CONCLUSION: Based on our results, PHP type 1A should be considered in toddlers presenting with round face, rapid weight gain, subcutaneous ossifications, and subclinical hypothyroidism. In older children, moderate mental retardation, brachydactyly, afebrile seizures, short stature, and thyroid-stimulating hormone resistance are the most suggestive features.

Infantile pyknocytosis, a rare cause of hemolytic anemia in newborns: report of two cases in twin girls and literature overview.

Infantile pyknocytosis is a rare cause of neonatal jaundice and hemolytic anemia. We report on two cases in twin girls that were diagnosed on peripheral blood smear reading. Pyknocytosis should be considered in cases of early unexplained severe hemolytic anemia, and systematic peripheral smear review performed. Its management consists of phototherapy and RBC transfusion.

Atypical manifestation of cat-scratch disease: isolated epigastric pain in an immunocompetent, 12-year-old child.

We present a 12-year-old immunocompetent girl with hepato splenic cat-scratch disease (CSD). Her sole inaugural complaint was isolated epigastric pain. She fully recovered, with normalized abdominal CT scan following 2 weeks course of Azythromycin®. CSD should be included in differential diagnosis in children with epigastric pain, especially in those with domestic pets.

Maternal hyperinsulinism and glycaemic status in the first trimester of pregnancy are associated with the development of pregnancy-induced hypertension and gestational diabetes.

OBJECTIVE: To evaluate the relationships across a range of glucose and insulin measures at 12 weeks of gestation with the development of pregnancy-induced hypertension (PIH), gestational diabetes mellitus (GDM) and birth size. MATERIALS AND METHODS: Prospective study of pregnant women booking before 15th week of gestation. At the first antenatal visit, standard measures of height, weight, blood pressure (BP) and social status were recorded, and blood sample was drawn for measurements of fasting glucose and plasma insulin. Oral glucose tolerance test with 75  g glucose load was performed after overnight fast. Odds ratios (ORs) with 95% CI were calculated to determine the risk of developing PIH or GDM depending on quartiles of blood glucose or tertiles of plasma insulin levels. RESULTS: One thousand six hundred and fifty pregnant women were included in the study. Of them, 1484 delivered a live infant of whom 70 were preterm, 166 did not complete the study, 155 mothers developed PIH (10.4%), 18 were diagnosed with GDM (1.2%) and four had both PIH and GDM. At 12 weeks of gestation, women who became hypertensive were heavier (P<0.001), with higher BMI (P<0.001) than controls. Both systolic (P<0.001) and diastolic BPs (P<0.001) were already higher in women who developed PIH. Fasting insulin concentrations were higher in PIH group (P<0.002). Fasting glucose level >6.8 mmol/l was associated with the likelihood of delivering a macrosomic baby (OR 3.1 (95% CI: 1.21-8.0); P=0.02); the effect was heightened in multiparous mothers (OR 4.0 (95% CI: 1.4-11.1); P=0.01). Fasting plasma insulin had, however, no effect on size at birth in this study. CONCLUSIONS: Our data suggest that women who develop PIH may be metabolically challenged at early stages of pregnancy with hyperinsulinism, insulin insensitivity and slightly higher BP.

Invasive pneumococcal infection despite 7-valent conjugated vaccine.

Despite good cover with 7-valent vaccination, invasive pneumococcal infections may still be misdiagnosed and may lead to lifethreatening situations or death in young children. New serotypes are emerging and, therefore, clinicians must keep a high level of suspicion in young children regardless of their vaccination status. We report three cases of invasive pneumococcal infection due to new serotypes not covered by the 7-valent conjugated vaccine, two of which led children to death.

Maternal smoking during pregnancy and fetal growth. Effects in preterm infants of gestational age less than 33 weeks.

OBJECTIVE: To evaluate the effects of maternal smoking during pregnancy on foetal growth in preterm infants with gestational age (GA) <33 weeks. POPULATION AND METHODS: Prospective observational cross-sectional study from two French perinatal networks cohort of preterm infants. Cases were 358 very preterm infants (GA 24-32 weeks) divided into two groups as maternal smokers (129) and non-smokers (229). 361 term infants (GA 37-41 weeks) also divided into two groups as maternal smokers (129) and non-smokers (232) served as comparison group (controls). We studied the influence of maternal smoking on foetal anthropometric growth parameters (BW, BL and head circumference defined according to AUDIPOG curves) in groups and compared cases and controls. Other causes of foetal growth restriction were excluded. RESULTS: Maternal characteristics (age, height, pre-pregnancy body weight, parity, foetus sex) were similar in both groups and sub-groups. Mothers who smoked were younger (P <0.001), more likely to be unemployed (P <0.001) and to have undergone less school education (P <0.001). Smoking did not alter foetal growth in preterm infants: maternal smokers versus non-smokers BW (P = 0.52), BL (P = 0.44) and HC (P = 0.81). Growth restriction was marked in term infants with BW (P <0.001), BL (P <0.001) and HC (P <0.01). In multivariate analysis, after adjustment for other confounding factors, foetal growth appeared to be significantly altered by maternal smoking during pregnancy only in term infants. CONCLUSION: Our study suggests that effects of maternal smoking during pregnancy on foetal growth are gestational age-dependent.

Gender, smoking during pregnancy and gestational age influence cord leptin concentrations in newborn infants.

BACKGROUND: Low birth weight (BW), small head circumference, reduced length, increased preterm births and neuro-endocrine dysfunctions are among known consequences of smoking during pregnancy. Few studies have linked leptin to clinical features of growth restriction associated with maternal smoking and explored interaction with other determinants of size at birth, such as gender. METHODS: Cord serum leptin concentrations were measured in 1215 term infants born to Caucasian mothers at completion of uneventful pregnancy. Serum concentrations were related to BW, gestational length, gender and maternal smoking and interaction with other determinants of size at birth evaluated. RESULTS: Smoking was more frequent in younger (P<0.001) and shorter mothers (P=0.03) from lower socio-economic groups (SEGPs) (P<0.001). Infants born to smokers were lighter (190 g less), shorter and with smaller head circumference. Cord serum leptin concentrations were higher in girls (9.8 s.d. 7.6 ng/ml) than in boys (7.05 s.d. 5.8 ng/ml) (P<0.001). Boys were heavier (BW 3.52 s.d. 0.49 kg) than girls (3.39 s.d. 0.44 kg) (P<0.001), but girls had greater skinfold thickness measurements (sub-scapular and quadriceps skinfold thicknesses 5.5 s.d. 1.6 mm and 7.6 s.d. 1.9 mm respectively; boys 5.3 s.d. 1.6 vs 7.24+/-1.90 mm, P<0.001 respectively). Multivariate analyses showed gender (P<0.001), BW SDS (P<0.001), gestational length (P<0.001) and maternal smoking (P<0.042) as factors that influenced umbilical cord serum leptin concentrations in newborns. CONCLUSION: Maternal smoking restrains foetal growth through placental vascular effects, and likely also via associated effects on leptin metabolism. More studies are needed to determine the influence that maternal smoking may have on placental syncytiotrophoblast and foetal adipose tissue.