Melnick-Needles syndrome is an osteo-dysplasia caused by a mutation of a gene, FLNA, coding for filamine A. It is at the origin of a set of complex congenital malformations, mainly of interest to the members, but also...Melnick-Needles syndrome is an osteo-dysplasia caused by a mutation of a gene, FLNA, coding for filamine A. It is at the origin of a set of complex congenital malformations, mainly of interest to the members, but also to the cranio-facial region. Melnick-Needles syndrome was first described in 1966 by two Americans John Melnick, a radiologist, and Carl F Needles, a pediatrician. They described cases of families of several generations who had a characteristic severe congenital bone disorder. They thought that human-to-human transmission had occurred in one case. We report a case of Melnick-Needles syndrome which is a pathology with very high mortality especially in a male subject. This was an observational study of a case received in consultation with the pediatric service of the Souro Sanou University Hospital Center in Bobo Dioulasso in Burkina Faso. It was a 3-year-old boy born in a low-term pregnancy without any prenatal consultation, imaging test and prenatal biology performed. The exact pathogenesis of this condition is not established but is linked to a mutation of the Filamine A gene linked to sexual chromosomes X. Pathology is rare, around a hundred cases have been reported worldwide. Its incidence, according to the literature is around 1/100,000. The sex ratio is at 7. The malformations of this acquired embryo-fetopathy are multiple, polymorphic and asymmetrical. The diagnosis of this pathology is suspected by the clinic and established by molecular biology by sequencing the genes responsible for the mutation. However, imagery, in particular the scanner has a major role by its protocol with multi-planar reconstructions and its analysis in double windowing which allow a better description of the malformations of this syndrome. Its management is complex, and multidisciplinary, and the unfortunate prognosis in our context is because of the precarious technical platform. In our case despite the obvious malformations presented by the patient, the parents consulted late in a health center because of the automation and especially the socio-cultural constraints which incriminate this type of polymalformation as being a curse. The patient underwent abdominal surgery and even the operating procedures were simple, he died four months after leaving the hospital, due to an unspecified cause.展开更多
Aim of the Study: The aim is to analyse the epidemiological, clinical and CT aspects of hydrocephalus in children. Method: This was a cross-sectional descriptive study with retrospective collection from 1 June 2021 to...Aim of the Study: The aim is to analyse the epidemiological, clinical and CT aspects of hydrocephalus in children. Method: This was a cross-sectional descriptive study with retrospective collection from 1 June 2021 to 31 December 2022 within the radiology department of Charles De Gaulle Pediatric Teaching Hospital in Ouagadougou, Burkina Faso. The study included the records of patients with hydrocephalus who underwent cerebral computed tomography within this radiology department. Results: Hydrocephalus is due to a disorder of the hydrodynamics of the cerebrospinal fluid causing an increase in the volume allocated to this fluid in the brain and being accompanied by an increase in the pressure of this fluid. Its diagnosis is established by Doppler ultrasound or MRI prenatally, transfontanellar ultrasound in newborns and young children whose fontanel is permeable and by CT or MRI in older children, who can also determine the etiology. MRI remains an imaging technique that is less available and less accessible than CT in developing countries like ours. In Burkina Faso, MRI is only available in two private health facilities. The objective of this study was to describe the epidemiological, clinical and computed tomography aspects of hydrocephalus in children at the Charles de Gaulle pediatric teaching hospital in order to contribute to the diagnostic assessment and better management of this pathology. Over 19 months, 105 cases of hydrocephalus were recorded out of a total population of 115 children, or an average of 6 cases per month. The mean age was 17.52 months, with extremes of 03 days and 13 years, and the sex ratio was 1.38. Macrocrania, convulsions and psychomotor retardation were the main clinical signs, with rates of 49%, 34% and 30% respectively. On cerebral CT scan, hydrocephalus was triventricular (41.90%), tetraventricular (40%), and predominantly non-communicating (60%), with a mean Evans score of 0.53. The aetiologies were malformations in 34.28% of cases, tumours in 10.47% and infections in 5.71%. Among the malformations, Arnold Chiari II syndrome associated with spina bifida and Dandy Walker syndrome were the most common, accounting for 25% each. Tumour causes were dominated by craniopharyngioma and astrocytoma, each accounting for 27.30% of cases. Conclusion: The incidence of hydrocephalus was high in our study. In the absence of MRI (due to its unavailability and inaccessibility), CT revealed hydrocephalus that was predominantly tri- and tetraventricular, and predominantly non-communicating.展开更多
Among the many parasitic diseases observed in the tropics, Toxoplasmosis is a fairly common occurrence. An infected pregnant woman can transmit it, transplacentally, to her foetus. Two cases of congenital toxoplasmosi...Among the many parasitic diseases observed in the tropics, Toxoplasmosis is a fairly common occurrence. An infected pregnant woman can transmit it, transplacentally, to her foetus. Two cases of congenital toxoplasmosis are discussed in this study. One patient is at 7 days of life, while the other is at 9 days of life. The newborns displayed the typical symptoms of jaundice, hepatosplenomegaly, chorioretinitis, and cranioencephalic abnormalities. However, the uniqueness of these observations is the presence of umbilical haemorrhage, a symptom not described in the literature researched. The evolution of this finding, during treatment is distinguished by the symptoms persisting until six months of age, in addition to growth retardation of saturation-weight, with no retardation of psychomotor development in one patient, and with hydrocephalus accompanied by psychomotor retardation in the other one. Hence, it is recommended that pregnant women are systematically screened for toxoplasmosis, and seronegative women are monitored;in fact, the early and suitable management of congenital toxoplasmosis will significantly control this parasitosis.展开更多
Introduction: In developing countries, many neonatal deaths still occur at home and the causes of these deaths are not ascertained. Objective: To identify the causes of stillbirths and neonatal deaths that occur at ho...Introduction: In developing countries, many neonatal deaths still occur at home and the causes of these deaths are not ascertained. Objective: To identify the causes of stillbirths and neonatal deaths that occur at home and the factors that have contributed to these deaths. Materials and Method: We have used the method of verbal autopsy to investigate the stillbirths and neonatal deaths in nine villages in the health area of Namsiguia, health district of Ouahigouya, Burkina Faso, during the period January 1, 2007 to December 8, 2012. Results: Over these six years, we have recorded 19 stillbirths and 36 neonatal deaths among 1507 live births, demonstrating a neonatal mortality rate of 28.8 per1000 and a rate of stillbirths of 12.6 per 1000. The average age of newborns at death was 5.6 days and the sex-ratio was 1.6. The major cause of stillbirths was antenatal hypoxia and birth asphyxia (42.1%). The direct causes of neonatal deaths were neonatal sepsis (41.7%), preterm birth (19.4%) and hypoxia and birth asphyxia (11.1%). There were 42.1% deliveries and 58.3% neonatal deaths, which occurred at home. We have noted 89.5% fresh stillbirths. Death occurred more often during the early neonatal period (55.5%). Factors significantly associated with neonatal death were, lack of school education of mothers (OR = 4), precocious marriage of the mother (OR = 8), poor follow-up of pregnancies (OR = 3), birth at home (OR = 4), low socioeconomic level (OR = 6), and low geographical access to the health facility (OR = 4). Conclusions: Strengthening of the health infrastructure and improving their accessibility, reinforcement of the staff for high quality care, and communication for a change in behavior in rural communities, will contribute toward reducing neonatal mortality in the area of health of Namsiguia.展开更多
Background: Cleft lip and/or palate are the most common orofacial malformations. Many studies, especially in developed countries have been conducted on this malformation, but in Burkina Faso, data are scarce and they ...Background: Cleft lip and/or palate are the most common orofacial malformations. Many studies, especially in developed countries have been conducted on this malformation, but in Burkina Faso, data are scarce and they are not specific to children. The aim of this study was to report the epidemiological, clinical and therapeutic aspects of cleft lip and/or palate in children in a low-income country. Materials and Method: The authors conducted a retrospective descriptive study based on data of three humanitarian missions of pediatric reconstructive facial surgery which took place in 2007, 2010 and 2014 at Clinique El Fateh-Suka in Ouagadougou, Burkina Faso. All children of 0 - 14 years of age, presenting with cleft lip and/or palate, were included in the study. Results: A total of 185 cases of cleft lip and/or palate were seen during these three humanitarian surgery missions. There were 100 boys and 85 girls. The average age of the children was 2.4 ± 3.2 years [0 - 12 years];there were 8.7% newborns. The commonest type of cleft was cleft lip and palate (49.7%) followed by isolated cleft lip (48.7%) and isolated cleft palate (1.6%). The left side was the most affected (49.2%). In 21.1% of cases, clefts were associated with other congenital malformations. In total, 150 of 185 (81.1%) children underwent surgery and there were no postoperative complications reported. Conclusions: Epidemiological and clinical characteristics of cleft lip and/or palate observed in this study are not very different from those described elsewhere in Africa. However, in our conditions, there are circumstances and structural factors which hinder the diagnosis and constitute challenges that must be addressed for adequate management of this congenital, highly disfiguring malformation.展开更多
文摘Melnick-Needles syndrome is an osteo-dysplasia caused by a mutation of a gene, FLNA, coding for filamine A. It is at the origin of a set of complex congenital malformations, mainly of interest to the members, but also to the cranio-facial region. Melnick-Needles syndrome was first described in 1966 by two Americans John Melnick, a radiologist, and Carl F Needles, a pediatrician. They described cases of families of several generations who had a characteristic severe congenital bone disorder. They thought that human-to-human transmission had occurred in one case. We report a case of Melnick-Needles syndrome which is a pathology with very high mortality especially in a male subject. This was an observational study of a case received in consultation with the pediatric service of the Souro Sanou University Hospital Center in Bobo Dioulasso in Burkina Faso. It was a 3-year-old boy born in a low-term pregnancy without any prenatal consultation, imaging test and prenatal biology performed. The exact pathogenesis of this condition is not established but is linked to a mutation of the Filamine A gene linked to sexual chromosomes X. Pathology is rare, around a hundred cases have been reported worldwide. Its incidence, according to the literature is around 1/100,000. The sex ratio is at 7. The malformations of this acquired embryo-fetopathy are multiple, polymorphic and asymmetrical. The diagnosis of this pathology is suspected by the clinic and established by molecular biology by sequencing the genes responsible for the mutation. However, imagery, in particular the scanner has a major role by its protocol with multi-planar reconstructions and its analysis in double windowing which allow a better description of the malformations of this syndrome. Its management is complex, and multidisciplinary, and the unfortunate prognosis in our context is because of the precarious technical platform. In our case despite the obvious malformations presented by the patient, the parents consulted late in a health center because of the automation and especially the socio-cultural constraints which incriminate this type of polymalformation as being a curse. The patient underwent abdominal surgery and even the operating procedures were simple, he died four months after leaving the hospital, due to an unspecified cause.
文摘Aim of the Study: The aim is to analyse the epidemiological, clinical and CT aspects of hydrocephalus in children. Method: This was a cross-sectional descriptive study with retrospective collection from 1 June 2021 to 31 December 2022 within the radiology department of Charles De Gaulle Pediatric Teaching Hospital in Ouagadougou, Burkina Faso. The study included the records of patients with hydrocephalus who underwent cerebral computed tomography within this radiology department. Results: Hydrocephalus is due to a disorder of the hydrodynamics of the cerebrospinal fluid causing an increase in the volume allocated to this fluid in the brain and being accompanied by an increase in the pressure of this fluid. Its diagnosis is established by Doppler ultrasound or MRI prenatally, transfontanellar ultrasound in newborns and young children whose fontanel is permeable and by CT or MRI in older children, who can also determine the etiology. MRI remains an imaging technique that is less available and less accessible than CT in developing countries like ours. In Burkina Faso, MRI is only available in two private health facilities. The objective of this study was to describe the epidemiological, clinical and computed tomography aspects of hydrocephalus in children at the Charles de Gaulle pediatric teaching hospital in order to contribute to the diagnostic assessment and better management of this pathology. Over 19 months, 105 cases of hydrocephalus were recorded out of a total population of 115 children, or an average of 6 cases per month. The mean age was 17.52 months, with extremes of 03 days and 13 years, and the sex ratio was 1.38. Macrocrania, convulsions and psychomotor retardation were the main clinical signs, with rates of 49%, 34% and 30% respectively. On cerebral CT scan, hydrocephalus was triventricular (41.90%), tetraventricular (40%), and predominantly non-communicating (60%), with a mean Evans score of 0.53. The aetiologies were malformations in 34.28% of cases, tumours in 10.47% and infections in 5.71%. Among the malformations, Arnold Chiari II syndrome associated with spina bifida and Dandy Walker syndrome were the most common, accounting for 25% each. Tumour causes were dominated by craniopharyngioma and astrocytoma, each accounting for 27.30% of cases. Conclusion: The incidence of hydrocephalus was high in our study. In the absence of MRI (due to its unavailability and inaccessibility), CT revealed hydrocephalus that was predominantly tri- and tetraventricular, and predominantly non-communicating.
文摘Among the many parasitic diseases observed in the tropics, Toxoplasmosis is a fairly common occurrence. An infected pregnant woman can transmit it, transplacentally, to her foetus. Two cases of congenital toxoplasmosis are discussed in this study. One patient is at 7 days of life, while the other is at 9 days of life. The newborns displayed the typical symptoms of jaundice, hepatosplenomegaly, chorioretinitis, and cranioencephalic abnormalities. However, the uniqueness of these observations is the presence of umbilical haemorrhage, a symptom not described in the literature researched. The evolution of this finding, during treatment is distinguished by the symptoms persisting until six months of age, in addition to growth retardation of saturation-weight, with no retardation of psychomotor development in one patient, and with hydrocephalus accompanied by psychomotor retardation in the other one. Hence, it is recommended that pregnant women are systematically screened for toxoplasmosis, and seronegative women are monitored;in fact, the early and suitable management of congenital toxoplasmosis will significantly control this parasitosis.
文摘Introduction: In developing countries, many neonatal deaths still occur at home and the causes of these deaths are not ascertained. Objective: To identify the causes of stillbirths and neonatal deaths that occur at home and the factors that have contributed to these deaths. Materials and Method: We have used the method of verbal autopsy to investigate the stillbirths and neonatal deaths in nine villages in the health area of Namsiguia, health district of Ouahigouya, Burkina Faso, during the period January 1, 2007 to December 8, 2012. Results: Over these six years, we have recorded 19 stillbirths and 36 neonatal deaths among 1507 live births, demonstrating a neonatal mortality rate of 28.8 per1000 and a rate of stillbirths of 12.6 per 1000. The average age of newborns at death was 5.6 days and the sex-ratio was 1.6. The major cause of stillbirths was antenatal hypoxia and birth asphyxia (42.1%). The direct causes of neonatal deaths were neonatal sepsis (41.7%), preterm birth (19.4%) and hypoxia and birth asphyxia (11.1%). There were 42.1% deliveries and 58.3% neonatal deaths, which occurred at home. We have noted 89.5% fresh stillbirths. Death occurred more often during the early neonatal period (55.5%). Factors significantly associated with neonatal death were, lack of school education of mothers (OR = 4), precocious marriage of the mother (OR = 8), poor follow-up of pregnancies (OR = 3), birth at home (OR = 4), low socioeconomic level (OR = 6), and low geographical access to the health facility (OR = 4). Conclusions: Strengthening of the health infrastructure and improving their accessibility, reinforcement of the staff for high quality care, and communication for a change in behavior in rural communities, will contribute toward reducing neonatal mortality in the area of health of Namsiguia.
文摘Background: Cleft lip and/or palate are the most common orofacial malformations. Many studies, especially in developed countries have been conducted on this malformation, but in Burkina Faso, data are scarce and they are not specific to children. The aim of this study was to report the epidemiological, clinical and therapeutic aspects of cleft lip and/or palate in children in a low-income country. Materials and Method: The authors conducted a retrospective descriptive study based on data of three humanitarian missions of pediatric reconstructive facial surgery which took place in 2007, 2010 and 2014 at Clinique El Fateh-Suka in Ouagadougou, Burkina Faso. All children of 0 - 14 years of age, presenting with cleft lip and/or palate, were included in the study. Results: A total of 185 cases of cleft lip and/or palate were seen during these three humanitarian surgery missions. There were 100 boys and 85 girls. The average age of the children was 2.4 ± 3.2 years [0 - 12 years];there were 8.7% newborns. The commonest type of cleft was cleft lip and palate (49.7%) followed by isolated cleft lip (48.7%) and isolated cleft palate (1.6%). The left side was the most affected (49.2%). In 21.1% of cases, clefts were associated with other congenital malformations. In total, 150 of 185 (81.1%) children underwent surgery and there were no postoperative complications reported. Conclusions: Epidemiological and clinical characteristics of cleft lip and/or palate observed in this study are not very different from those described elsewhere in Africa. However, in our conditions, there are circumstances and structural factors which hinder the diagnosis and constitute challenges that must be addressed for adequate management of this congenital, highly disfiguring malformation.
