Incidence of infantile Pompe disease in the Maroon population of French Guiana.

OBJECTIVES: The aim of this study was to describe the epidemiology of infantile Pompe disease (IPD) in French Guiana, a French overseas territory, by combining a retrospective case records study and a prospective anonymous genotyping in a sample of mothers followed in the two major maternity units of French Guiana. METHODS: We identified 19 newborns with IPD born within a 13-year-period in French Guiana, corresponding to 1/4528 births. All children were born within the African-American Maroon (Bushinengue) community originating from slaves who settled along the Maroni river in the 19th century. We also performed an anonymised screening for all women in postpartum, in the two main maternity units of French Guiana. RESULTS: Genetic investigations revealed that all patients with IPD were homozygotes or compound heterozygotes for two known pathogenic variations: c.2560C>T p.(Arg854*) that has already been reported in African-Americans and c.1942G>A p.(Gly648Ser), a rare previously considered to be variant. We identified no heterozygotes among 453 mothers of various ethnicities in Cayenne, but 15 heterozygotes among 425 mothers (1/27) in Saint-Laurent-du-Maroni (95% CI 1/45 to 1/17), all from the Maroon community, which corresponds to an expected IPD incidence in Maroons of 1/1727 (95% CI 1/1156 to 1/8100). CONCLUSION: The incidence of IPD in the Maroon community is roughly 50 times higher than elsewhere in the world. The presence of only two different variants in all affected patients is compatible with a double founder effect in a relatively small population that has seldom mixed with other regional populations in the past and therefore has a reduced pool of genotypes.

Clinical features and prognosis of paraquat poisoning in French Guiana: A review of 62 cases.

Paraquat is a nonselective contact herbicide of great toxicological importance, being associated with high mortality rates. Because of its high toxicity, the European Union withdrew it from its market in 2007. The aim of this study is to analyze all cases of paraquat poisoning hospitalized in French Guiana in order to assess their incidence and main characteristics.Medical records of all paraquat intoxicated patients hospitalized from 2008 until 2015 were reviewed in this retrospective study.Demographics, clinical presentation, and laboratory data were evaluated.A total of 62 cases were reviewed. The incidence of paraquat poisoning was 3.8/100,000 inhabitants/year. There were 44 adults and 18 children younger than 16 years of age. The median ages were 31 years [18.08-75.25] in adults and 13.4 years [0.75-15.08] in children, respectively. The median duration of hospitalization was longer in children [15.5 days (1-24)] than in adults [2 days (1-30)], P < .01. The majority of cases was due to self-poisoning (84%).Children had ingested a lower quantity of paraquat [48.8 mg/kg (10-571.1)] than adults [595.8 mg/kg (6-3636.4), P = .03]. There were more deaths among adults (65%) than in children (22%), P = .004. The severity and outcome was determined primarily by the amount of paraquat ingested.In conclusion, French Guiana has the largest cohort of paraquat poisonings in the European Union. The major factor affecting the prognosis of patients was the ingested amount of paraquat. The administration of activated charcoal or Pemba, in situ, within the first hour after ingestion of paraquat is essential.

Asymptomatic multinodular splenoma (splenic hamartoma) in a child with sickle cell anemia.

Splenoma is a rare and benign malformation usually fortuitously diagnosed during imaging, surgery or, unfortunately, at autopsy. Although splenoma was first described in 1861, its association with hematological pathology is a very unusual condition in children. We report the case of an asymptomatic splenoma in an 8-year-old boy with sickle cell anemia, whose diagnosis was confirmed after conventional splenectomy.

Salmonella enterica serovar Panama meningitis in exclusive breastfeeding infants: Report of 4 cases, clinical features and therapeutic challenges.

RATIONALE: The pathway of Nontyphoid Salmonella meningitis, especially in exclusive breastfeeding infants, has not been well characterized. PATIENT CONCERNS: We analyzed data related to nontyphoid Salmonella meningitis in 4 infants. DIAGNOSES: No diarrhea was observed and the coproculture was negative for all patients. INTERVENTIONS: Early diagnosis and treatment with combination of third-generation cephalosporins plus quinolones for a minimum of 3 weeks is necessary to avoid severe sequelae and death. OUTCOMES: The first 3 patients had a good evolution, whereas the last patient had multiple brain abscesses and hydrocephalus requiring treatment with a ventriculoperitoneal shunt. LESSONS: The highlights of our study are that all infants were exclusively breastfed, no diarrhea observed and the negative coproculture for all the 4 patients, which is relatively rare for Salmonella infection.

Chikungunya Infection in Hospitalized Febrile Infants Younger Than 3 Months of Age.

BACKGROUND: Fever in infants younger than 3 months is generally a cause for concern because of the risk for a serious bacterial infection. The aim of this study was to describe clinical and biologic features of Chikungunya infection in infants <3 months of age hospitalized in Cayenne Hospital during the 2014-2015 outbreak. METHODS: We performed a preliminary retrospective study followed by a prospective study from March 2014 to February 2015. All infants younger than 3 months presenting with fever and hospitalized in Cayenne Hospital were included. The main diagnostic criteria were fever and positive Chikungunya polymerase chain reaction. RESULTS: One hundred and twenty infants were hospitalized with fever. The mean age was 46 days (standard deviation ± 22 days). The mean hospitalization duration was 7.4 days (standard deviation ± 6.1 days). Chikungunya infection was diagnosed in 26 children. The most important clinical findings were high [80.8% (77.5-84)] and prolonged fever [76.9% (73.4-80.4)], irritability [96.2% (94.5-97.7)] and skin rash [69.2% (65.4-73)]. Half of the infants presented edema of the extremities (hands and feet principally). However, in 15% of infants, Chikungunya infection was associated with a serious bacterial infection. Infants who presented with irritability, high fever and elevated PCT were at high risk for Chikungunya: OR 39 (9.2-243; P < .001), with a specificity of 96.7% and a negative predictive value of 89.4%. The area of the receiver operating characteristic curve was 0.96. CONCLUSIONS: Our results confirm that Chikunguyna infection is a cause of high fever in infants younger than 3 months. Our data should be confirmed by larger studies.

Cerebral injuries associated with Zika virus in utero exposure in children without birth defects in French Guiana: Case report.

RATIONALE: A major epidemic of Zika virus (ZIKV) infection occurred in French Guiana and West Indies. French national epidemiological surveillance estimated that 1650 pregnant women contracted the ZIKV during epidemic period from January 2016 to October 2016 in French Guiana. PATIENT CONCERNS: ZIKV infection during pregnancy is a cause of microcephaly and birth defects. DIAGNOSES: In this report, we describe 2 children with proven in utero ZIKV exposure. Their mothers were both symptomatic and ZIKV infection occurred early in pregnancy. Ultrasonography monitoring in utero did not show any abnormality for both patient. They were born at full-term, healthy, without any birth defects and no sign of congenital ZIKV infection. INTERVENTIONS: ZIKV was neither found on placenta fragments nor children blood and urine at birth. Their neurodevelopment outcomes in early-life fitted the expectations. As recommended in national guidelines, we performed cerebral MRIs at 2 months old, showing severe brain abnormalities, especially of white matter areas. After a large screening, we did not find any differential diagnosis for their brain lesions. OUTCOMES: We concluded it was due to their in utero ZIKV exposure. LESSONS: In this report, pathogenicity of ZIKV may involve mother's immunological response or metabolic disorder during the infection.