Melnick Needles Syndrome: Computed Imaging and Management Difficulties

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.

CT Profile of Hydrocephalus in Children at the Charles de Gaulle Pediatric Teaching Hospital in Ouagadougou

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.

Diagnostic Input of Specialized Radiographic Examinations in Pediatric Setting in Ouagadougou (Burkina Faso)

Context: In spite of the development of cross-sectional medical imaging and endoscopy means, the prescription of specialized radiographic examinations is still relevant in the pediatric environment in our country. Objective: Show the contribution of specialized radiographic examinations performed in pediatric settings. Methodology: This was a retrospective descriptive study implemented over a five year-period, from June 10th, 2014 to June 10th, 2019 within the radiology department of Charles De Gaulle Pediatric Teaching Hospital in Ouagadougou. This study included the results of 192 specialized radiographic examinations collected within the concerned department. Results: The average age of the patients was 4.21 years with extremes of 8 days and 15 years. Infants (29 days to 24 months) were the predominant age group with a rate of 53.13% (n = 102 patients). Boys represented 76.51% of the sample with a sex ratio estimated at 3.25. Specialized radiographic examinations represented 0.46% of the overall imaging examinations and 0.72% of radiographic examinations performed during the study period. 67.19% of pathological examinations were reported. Colonic enema and retrograde urethrocystography (RUC) were the most performed examinations respectively accounting for 33.34% and 27.6%. The radiographic findings were consistent with the diagnostic hypotheses in 41.6% of cases. Conclusion: Specialized radiographic examinations keep their place in the exploration of several pathologies in pediatric settings.

Male Breast Nodules in Ouagadougou (Burkina Faso): Radiological and Histopathological Aspects

Objective: To describe the radiological and histological aspects of breast nodules among men in our practice setting. Methodology: This is a descriptive and retrospective study conducted from January 2014 to October 2017. The study included male patients with breast nodules classified ACR3, 4 or 5 after a mammographic and ultrasound scan. These lesions were explored through an ultrasound-guided breast microbiopsy. The following are the variables collected: age, family history of breast cancer, medical history, ACR classification, nodule size, and anatomopathologic diagnosis. Results: 13 breast nodules were explored among 13 male subjects. Mammography and breast ultrasound enabled to identify one ACR3 lesion, 10 ACR4 lesions and 2 ACR5 lesions. The average age was 56.53 ± 14.63 years and the average size of the nodules 28.91 ± 13.62 mm. As for histology, there were seven malignant tumors and six benign tumors. The average age of patients with malignancy was 61.45 ± 13.62 years. The malignant nodules average size was 29.45 ± 12.54 mm. Malignant tumors exclusively consisted of invasive breast carcinomas while Benign ones consisted of dystrophic and inflammatory lesions. Conclusion: Most often Breast lesions among men had an indeterminate appearance on imaging and were predominantly malignant in histopathology.

Preliminary Study on Renal Ultrasound Biometry in Apparently Healthy 18 to 30-Year-Old Subjects with Normal Renal Function in Ouagadougou

Introduction: In our practice, renal measurements in patients with normal renal function usually appear to be lower compared to standards reported in reference literature. The standards are probably different in our context. Given the importance of renal biometrics in nephrological practice, we felt it necessary to carry out this preliminary study in order to identify an order of reference measurements appropriate to our context. Methods: This was a cross-sectional study that took place from 18 August to 04 November 2018 at the Yalgado Ouedrarogo University Hospital Center. The first 100 subjects aged between 18 and 30 years who met the following inclusion criteria were selected: to be black african Burkinabe and to have normal renal function. The height, width and thickness of each kidney were measured using ultra-sound scanners. For statistical tests, a value of p < 0.05 was considered statistically significant. Results: The average age was 23.9 ± 6.1 years and the sex ratio was 2.2. Mean heights, widths and renal thicknesses were 94.5 ± 14.5, 38.7 ± 10.7 and 36.3 ± 10.3 mm, and 96.7 ± 16.7, 42.7 ± 16.7 and 36.8 ± 10.8 mm respectively for right and left kidneys. The distribution of the different renal dimensions in our sample followed a normal distribution. In the particular case of the right kidney, the probability that its height was between 79.2 and 109.7 mm was 0.95 and the probability that it was less than 79.2 mm or greater than 109.7 mm was 0.05. Renal height was significantly higher in subjects with height greater than 1.70 m (p ≤ 0.02). The left kidneys were on average significantly larger than the right kidneys (p = 0.0001). Conclusions: Our study is not extrapolable to the general population of Burkina Faso. It suggests, however, that the kidneys of the apparently healthy Burkinabe subject are smaller than what is reported in anatomy reference books. Our work, which is preliminary, should be deepened through a national survey. In the meantime, we should consider, in the nephrological assessment of the Burkinabe patient, the results of the renal biometrics we report.

Radio-Histopathological Aspects of Breast Nodules in a Sub-Saharan African City (Ouagadougou, Burkina Faso)

Objective: To determine the diagnostic contribution of breast microbiopsy percutaneously under ultrasound guidance. Methodology: Retrospective descriptive study conducted from January 2014 to October 2017. The included patients had an ultrasound-guided breast microbiopsy after a mammographic and ultrasound scan. The variables collected were gender, age, nodule size, ACR classification and anatomopathologic diagnosis. Results: 347 nodules were explored in 313 patients. There were 300 women (95.85%) and 13 men (4.15%), a gender ratio of 23.07. The average age was 44.64 ± 14.18 years. The average size of the nodules was 30.33 ± 19.58 mm. There were 53.89% ACR4 grade nodules, 48% ACR5 nodules and 32.28% ACR3 nodules. 86.49% of ACR3 nodules were benign and 97.92% of ACR5 nodules were actually malignant. Malignant tumors accounted for 50.29% of the nodules and were dominated by invasive breast carcinomas in 98.26%. The average age of patients with malignant tumors was 49.15 ± 11.55 years. 16% of patients with malignancy were aged under 40 years old. Conclusion: The diagnostic yield was satisfactory and there was a good correlation between the rate of malignant and benign lesions and the positive predictive values of malignancy in the literature.