Esophageal achalasia in an adolescent in Central Africa: a case report.

Esophageal Achalasia has rarely been reported in sub-Saharan Africa. We report a case of a 12 years old boy who has been diagnosed after experiencing dysphagia for a year and progressive wasting. Esophagogram was the only exploration available in our settings and showed classical features. He underwent a Heller esophago-cardiomyotomy with Toupet fundoplication. Postoperative period was unremarkable and BMI normalized for age and sex on the sixth postoperative month. In low settings, history is a key step which lead to clinical suspicion as esophagogram is often the only available exploration to confirm the diagnosis.

[Anorectal malformations: a 6-years review at the University Clinics of Lubumbashi]. / Malformations anorectales: revue de 6 ans aux Cliniques Universitaires de Lubumbashi.

Anorectal malformations (ARM) are developmental anomalies of the genitor anal elements, they represent a wide range of anomalies. An early diagnosis allows a better management as it reduces mortality associated with ARM, especially in developing countries. A prospective cross-sectional study has been carried, including patients from 0 to one year, admitted in our service for ARM. Twenty-four (24) patients have been considered. The median age was 2 days, the sex ratio 1/3 for female. Intestinal occlusions were the most frequent circumstances of diagnosis (50%), low ARMs were the most frequent, diagnosed in 11 patients (45.7%) of which 10 did not have any fistula. The most common associated malformation was intestinal atresia (3 patients). Anoplasty was done using abdominoperineal pull-through associated to anal dilatations in 13 patients (54.1%). Six patients died from unknown etiology and 6 were lost from the follow-up. Concerning the functional outcome, 12 of the 24 patients concerned by the study attended review and 3 of them presented signs of fecal incontinence, 9 of them were continents among whom 8 were diagnosed low ARM and one with high ARM. ARMs are encountered in our environment, nonetheless, the diagnosis is still made most of the time, during an intestinal occlusion. The mortality rate is still high and measures should be taken to allow long-term reviews, which will surely reduce the number of lost patients.

Congenital segmental dilatation of the jejunum in an African child: a case report.

Congenital segmental dilatation of the intestine is a rare disease. It is rarely located in the jejunum and its etiology is still unknown despite many theories suggesting its mechanism. We report a case of a 17 months girl who experienced nonspecific symptoms (abdominal pain, constipation and loss of appetite) since early her infancy. She had no growth retardation and had moderate abdominal distension on physical examination. Investigations undertaken could not increase suspicion of congenital segmental dilatation of the intestine (CSDI). The diagnosis was made peroperatively and a resection was done, followed by end-to-end jejunal anastomosis. There were no postoperative complications and the patient is doing well after four months. One should think of CSDI in children with chronic subocclusion or digestive hemorrhage.

Respiratory Health and Urinary Trace Metals among Artisanal Stone-Crushers: A Cross-Sectional Study in Lubumbashi, DR Congo.

BACKGROUND: Thousands of artisanal workers are exposed to mineral dusts from various origins in the African Copperbelt. We determined the prevalence of respiratory symptoms, pulmonary function, and urinary metals among artisanal stone-crushers in Lubumbashi. METHODS: We conducted a cross-sectional study of 48 male artisanal stone-crushers and 50 male taxi-drivers using a standardized questionnaire and spirometry. Concentrations of trace metals were measured by Inductively Coupled - Plasma Mass Spectrometry (ICP-MS) in urine spot samples. RESULTS: Urinary Co, Ni, As, and Se were higher in stone-crushers than in control participants. Wheezing was more prevalent (p = 0.021) among stone-crushers (23%) than among taxi-drivers (6%). In multiple logistic regression analysis, the job of a stone-crusher was associated to wheezing (adjusted Odds Ratio 4.45, 95% Confidence Interval 1.09-18.24). Stone-crushers had higher values (% predicted) than taxi-drivers for Forced Vital Capacity (105.4 ± 15.9 vs. 92.2 ± 17.8, p = 0.048), Forced Expiratory Volume in 1 Second (104.4 ± 13.7 vs. 88.0 ± 19.6, p = 0.052), and Maximum Expiratory Flow at 25% of the Forced Vital Capacity (79.0.1 ± 20.7 vs. 55.7 ± 30.1, p = 0.078). CONCLUSION: Stone-crushers were more heavily exposed to mineral dust and various trace elements than taxi-drivers, and they had a fourfold increased risk of reporting wheezing, but they did not have evidence of more respiratory impairment than taxi-drivers.

Agnathia otocephaly: A case from the Katanga Copperbelt.

BACKGROUND: Agnathia otocephaly is a rare craniofacial malformation complex characterised by absent/hypoplastic mandible, abnormally positioned ears meeting at level of neck. Besides mutations in two genes, PRRX1 and OTX2, a teratogenic cause has been suggested. A higher risk of congenital malformations has been associated with paternal work in mining in the Democratic Republic of the Congo's part of the Copperbelt. CASE: We studied a female neonate with a clinical diagnosis of agnathia otocephaly, stillborn in Lubumbashi in 2019. The child's father had been working as an artisanal mineworker at the time of conception. RESULTS: Genetic analysis did not reveal a causal mutation. The concentrations of cobalt, arsenic cadmium, and uranium in cord blood of the infant were much higher than those of normal neonates from a previous study. CONCLUSION: In the absence of identified genetic causes, we hypothesize this case of agnathia otocephaly was related to an exogenous cause, possibly the father's mining-related job.

Metal mining and birth defects: a case-control study in Lubumbashi, Democratic Republic of the Congo.

BACKGROUND: Widespread environmental contamination caused by mining of copper and cobalt has led to concerns about the possible association between birth defects and exposure to several toxic metals in southern Katanga, Democratic Republic of the Congo (DRC). We therefore aimed to assess the possible contribution of parental and antenatal exposure to trace metals to the occurrence of visible birth defects among neonates. METHODS: We did a case-control study between March 1, 2013, and Feb 28, 2015, in Lubumbashi, DRC. We included newborns with visible birth defects (cases) and healthy neonates born in the same maternity ward (controls). Mothers were interviewed about potentially relevant exposures, including their partners' jobs. Various trace metals were measured by inductively coupled plasma mass spectrometry in maternal urine, maternal blood, umbilical cord blood, placental tissue, and surface dust at home. Multivariable logistic regression analyses were done to calculate adjusted odds ratios and their 95% CIs (CI). FINDINGS: Our study included 138 neonates with visible birth defects (about 0·1% of the 133 662 births in Lubumbashi during the study period) and 108 control neonates. Potential confounders were similarly distributed between cases and controls. Vitamin consumption during pregnancy was associated with a lower risk of birth defects (adjusted odds ratio 0·2, 95% CI 0·1-0·5). Mothers having paid jobs outside the home (2·8, 1·2-6·9) and fathers having mining-related jobs (5·5, 1·2-25·0) were associated with a higher risk of birth defects. We found no associations for trace metal concentrations in biological samples, except for a doubling of manganese (Mn; 1·7, 1·1-2·7) and zinc (Zn; 1·6, 0·9-2·8) in cord blood. In a separate model including placentas, a doubling of Mn at the fetal side of the placenta was associated with an increased risk of birth defects (3·3, 1·2-8·0), as was a doubling of cord blood Zn (5·3, 1·6-16·6). INTERPRETATION: To our knowledge, this is the first study of the effects of mining-related pollution on newborns in sub-Saharan Africa. Paternal occupational mining exposure was the factor most strongly associated with birth defects. Because neither Mn nor Zn are mined in Lubumbashi, the mechanism of the association between their increased prenatal concentrations and birth defects is unclear. FUNDING: Flemish Interuniversity Council-University Development Cooperation, The Coalition of the North-South movement in Flanders 11.11.11.

Microdeletion of the entire IRF6 gene in a Subsaharian African's family with Van der Woude syndrome.

Microdeletion of the entire interferon regulatory factory 6 (IRF 6) gene is a rare cause of Van der Woude syndrome (VDW) with only few cases reported in medical literature. Its occurrence in multiple affected members of a family is exceptional. The aim of this presentation was to describe a Central African family with typical VDW phenotype carrying an IRF6 gene deletion. Here we reported phenotype features of members of a Central African family with VDW syndrome consisting of labioalveolar cleft, depressions of the lower lip with labial fistulae (lip pits), submucosal clefts and cleft palate. Mutation analysis by means of multiplex ligation-dependent probe amplification and chromosomal microarray revealed a 374.070 kb, deletion encompassing the entire IRF6 gene in four affected family members. Microdeletion of the entire IRF6 gene causes the classical VDW syndrome phenotype.

Non-syndromic cleft lip and/or cleft palate: Epidemiology and risk factors in Lubumbashi (DR Congo), a case-control study.

PURPOSE: To determine the incidence and risk factors of occurrence of non-syndromic cleft lip and/or cleft palate (NSCLP) in Lubumbashi. METHOD: A case-control study was conducted in the health district of Lubumbashi from February 2012 to December 2015. An exhaustive sampling, collecting all newborns with cleft lip and/or cleft palate (CL ± P) in maternity wards was conducted. From a total of 172 cases, 162 non-syndromic cases were recruited. For each case, one clinically normal newborn control was selected. RESULTS: NSCLP had an incidence of 1/1258 live births (0.8/1000). We found significant associations with a family history of cleft lip and palate (CLP) (x2family history = 11.5, p = 0.0007), maternal alcohol intake (OR = 19.3, 95% CI: 1.9-197.1), paternal alcohol during the periconceptional period and the first trimester of pregnancy (OR = 18.7, 95% CI: 3.9-89.2), maternal educational level lower than high school (OR = 9.5, 95% CI: 2.0-44.7), clay (Pemba) consumption during pregnancy (OR = 38.3, 95% CI: 9.3-157.0), the use of insecticides in the evening (OR = 130.3, 95% CI: 13.2-1286.9), indoor cooking with charcoal (Makala) (OR = 6.5, 95% CI: 1.22-34.5), and regular consumption of Kapolowe fish, supposedly contaminated with heavy metals (OR = 29.5, 95% CI: 7.4-116.7). CONCLUSION: Several environmental risk factors highly prevalent in Central Africa for facial clefting were found.

Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa.

Wolf-Hirschhorn syndrome (WHS) is a multiple congenital anomaly-intellectual disability syndrome caused by a deletion involving chromosome 4p16.3. We report clinical and genetic findings of the first WHS patient diagnosed in central Africa. This boy who presented with cleft palate, microcephaly, severe growth delay, and intellectual disability was 12 years old. Typical craniofacial features were present, though the characteristic "Greek helmet" appearance of the nose was less evident, probably reflecting a variable expression related to the genetic background. The clinical diagnosis of WHS was confirmed by array CGH, which revealed a terminal 4p16.3 deletion of 3.47 Mb, typically associated with a milder phenotype, contributing to the long survival of this child in a developing country.

Mirror-image gastroschisis in monochorionic female twins.

We report a case of "mirror-image" gastroschisis in female monochorionic twins. One of the twins presents a right-sided gastroschisis, the other a left-sided gastroschisis. Both twins have anteriorly placed anus and sacral dimple. To the best of our knowledge, this represents the first case of mirror image or discordant left and right gastroschisis in monochorionic twins reported in the literature. This observation may shed further light on the pathogenesis of gastroschisis.

Preaxial polydactyly of the foot: variable expression of trisomy 13 in a case from central Africa.

Trisomy 13 is a chromosomal disorder characterized by a severe clinical picture of multiple congenital anomalies. We here describe the clinical and genetic features and prognosis observed in a newborn with trisomy 13 from Central Africa. He presented the rare feature of preaxial polydactyly of the feet.

Meningocele in a congolese female with beckwith-wiedemann phenotype.

Beckwith-Wiedemann syndrome (BWS) is a rare congenital syndrome characterized by an overgrowth, macroglossia, exomphalos, and predisposition to embryonal tumors. Central nervous abnormalities associated with BWS are rare. We describe a one-day-old Congolese female who presented meningocele associated with BWS phenotype.