The pneumomediastinum is an unusual complication of respiratory infections in immunocompromised patients and may be associated with opportunistic pneumonia. We describe the case of a child with a medical history of acute lymphoblastic leukemia diagnosis, undergoing chemotherapy, and presenting a respiratory distress due to a pneumomediastinum. Etiological investigations identified a cytomegalovirus (CMV) pneumonia. The spontaneous pneumomediastinum is a rare cause of respiratory distress in immunocompromised children.
Non-accidental injury (NAI), sometimes referred to as “the battered child syndrome” or simply, physical child abuse has been an old social and medical problem that has plagued our societies for a very long time and still is a major cause of disability among our children. The diagnosis of non-accidental injury is seldom easy to make and requires a careful consideration of sociobehavioural factors and clinical findings (1). In reality, the possibility of child abuse is often overlooked in clinical practice (2). Fractures are the second most common presentation of physical abuse after skin lesions, and more than a quarter of abused children will eventually be seen by an orthopaedic surgeon (3-5). Thus, it is essential that the orthopaedic surgeon has a clear understanding of the manifestations of physical abuse, to increase awareness, recognition and appropriate management. There is no pathognomonic fracture pattern in abuse. Rather, the age of the child, the overall injury pattern, the stated mechanism of injury and pertinent psychosocial factors must all be considered in each case (1). The differential diagnosis of NAI includes other conditions that may cause fractures but, are not limited to accidental injury, birth trauma, osteogenesis imperfecta, metabolic bone disease, congenital syphilis, leukemia and coagulation disorders. Management should be multidisciplinary, with the key being recognition, as children suffering from NAI have a substantial risk of repeated physical abuse and death. A case is presented focusing on the physical abuse with particular emphasis on fractures.
Introduction: The aim of this study was to critically analyse and evaluate the clinico-pathological epidemiological profile and the treatment of results for different types of esophageal atresia treated in our institution. Material and methods: Data were collected retrospectively for 76 newborn children diagnosed with esophageal atresia in our institution between 1st June 1990 and 30th May 2014. Results: The average birth weight was 2.4 kg. The mean gestational age was 36.1 ± 3.2 weeks. Types A, B, C and E of the EA (Gross Classification) were respectively represented 7 (9.2%) 1 (1.3%), 62 (81.6%) and 6 (7.9%). Malformations were associated in 53.9% of cases (n=41). The mean time between birth and the surgical cure was 61 days (0-3650 d). In types A, B and C, the mean time between the birth and surgical cure was 2 days (0-8 d). A tracheobronchoscopy was performed on 42 patients. It allowed us to confirm the diagnosis of oesophageal atresia (41 cases) and to find other bronchial tracheal abnormalities (5 cases). Seventy-four newborns underwent surgical correction of the EA. The mean time of hospitalisation was 48.9 days. Complications were oesophageal stenosis (35.5%), gastro-esophageal reflux (67.1%) with 9.2% who underwent a fundoplication. The mortality rate was 11.8% (n=9), mainly due to associated malformations (heart diseases). The long-term follow up (≥5 years) was complete for 24 patients and the mean follow up was 4.9 years. Forty-seven (68%) patients were alive at a year of decline. Conclusion: Our results confirm the findings in the literature. The evaluation of the airways preoperatively proved an essential diagnostic mean in our series.
The occurrence of a strangled omphalocele associated with acute appendicitis in the omphalocele sac is exceptional. To our knowledge, it has not been described previously in the literature. We report a case and discuss the epidemiological, diagnostic and therapeutic aspects of this morbid association. The patient was a 4 days newborn male who was admitted for a congenital malformation located at the umbilical region found at birth in the delivery room. The diagnosis of a type I omphalocele of Aitken was made and a directed epidermization according to the GROB technique was performed. On the 6th day of hospitalization, the patient had clinical symptoms that were thought to be consistent with intestinal obstruction syndrome. Abdominal X-rays revealed a large intestinal distention and absence of air-fluid levels. Looking to these signs of low occlusion, the diagnostic hypothesis of a strangulated omphalocele was discussed and an exploratory laparotomy was performed on the 8th day of hospitalization. Surgical exploration revealed, inside the sac of the omphalocele, an incarceration of the terminal ileum, cecum, and appendix, which was inflammatory and had pseudo-perforating membranes at its distal extremity. The extrication showed normal coloring bowel loops. An antegrade appendectomy was performed followed by a peritoneal cavity wash with isotonic saline. A primary closure was performed followed by umbilicoplasty. The post-operative period was uneventful. Anatomopathological examination showed an acute appendicitis. The patient received care and regular follow-up and after 4 months of follow-up the patient was free of any symptoms.
The death of (American) high school football players following an on-field collision during a game (according to media, eight in 2013, five in 2014, seven in 2015, and at least three in 2016) has alarmed us that we should make serious adjustments or improvements on the way the sport is currently practiced. Parents are increasingly worried whether they should allow their children to play football, some school districts have entirely shut down their football programs, and the number of male high school football players has continuously fallen to about 1.08 million in 2015, a 2.4% decline from 2010.[1] On the other hand, college and professional football leagues (NCAA Football and NFL) which are the preeminent games in the U.S, let alone the NFL the most watched sport followed by Major League Baseball (14 %). And youth and high school football programs are the gateways leading to as well as a nursery for the college and professional leagues. Thus, the warning signs are taken as great threats to hurt the football organizations’ lucrative business, so they have systematically downplayed and denied the seriousness of the players’ brain injuries and politically lobbied against the scientific research on the link between paying football and head injuries, though they recently admitted some truths about the danger of the sport. This paper, focusing on traumatic brain injury (TBI) and its degenerative kind, chronic traumatic encephalopathy (CTE), will survey the historical and medical narratives about head injury and contact sports, particularly American football; examine the current controversies and difficulties that occurred with research procedures and results of the scientific communities on head injury and football; investigate the currently proposed football practice-guidelines and game-rules by football organizations; lastly, propose recommendations which may serve as rather concrete and exhaustive guidelines for the elementary and secondary student football programs. [1] Ken Belson, “As Worries Rise and Players Flee, a Missouri School Board Buts Football,” The New York Times, Sep. 28, 2015, accessed Oct. 18, 2016, http://www.nytimes.com/2015/09/29/sports/football/As-Worries-Rise-and-Players-Flee-a-Missouri-School-Board-Cuts-Football.ht ml. INTRODUCTION American Football, a high contact sport, requires players to wear full protective padding, including helmets. Despite these precautions, players are repeatedly subject to intense blows to the head that can cause mild traumatic brain injury (MTBI), or concussions, which range in severity. A more severe concussion is classified as a traumatic brain injury (TBI), and many concussions can lead to the degenerative condition known as chronic traumatic encephalopathy (CTE). CTE was initially thought to have been a disease primarily associated with boxing, and was originally named “dementia pugilistica” or “punch-drunk syndrome.” This life-changing and currently untreatable disease can cause loss of memory, difficulty controlling impulsive or erratic behavior, aggression, depression, impaired judgment, and the gradual onset of dementia.[1] According to Brain Injury Research Institute (BIRI), approximately 1.6-3.8 million sports and recreation-related concussions are reported each year. About 60% of these are due to playing football.[2] As of 2015, the total of 87 out of 91 deceased NFL players has been tested positive for CTE according to new figures from the nation’s largest brain bank focused on the study of traumatic head injury[3] The CTE The Effect of Chronic Traumatic Encephalopathy (CTE) on Elementary and Secondary Student Football Players and Preventive Guidelines 2 of 19 must have begun at some point in a player’s career, but it is almost impossible to pinpoint when exactly it does. However, it is presumed that the CTE begins early on, as we observe the fact that a player such as Tyler Sash, a former NFL Giants safety, died at the young age of 27 years old. Tyler Sash played for 16 years when his brain exhibited the level of CTE comparable to that of the late Hall of Famer, Junior Seau, who committed suicide when his age was 43year-old. For a young player to display the symptom at such an advanced stage, he would have had to experience MTBI starting perhaps when he was in elementary school.[4] It is reported that the incidence of concussion in high school sports is .24 per 1000 between years 1997-2008.[5] Of all concussions here, more than half were reported in the sport of football (incidence .60), and girls soccer had the second highest rate (incidence .35). And most significantly, the concussion rate has increased 4.2-fold over the 11 years (15.5% annual increase). The top four sports with an increased incidence of concussion include football, soccer, lacrosse, and wrestling.[6] A recent report from a Canadian study shows a similar finding with top sports including rugby, hockey and American football (incidence 4.18, 1.2 and .53 respectively) and an overall incidence of concussion as .23 per 1000.[7] The BIRI also reported that a concussion suffered by a high school student has much more of an impact than one by a college student. Lack of proper diagnosis and management of a concussion may result in serious long-term consequences or risk of coma or death.[8] Boxing is banned in elementary and secondary schools and at most colleges because medical evidence is clear that chronic brain damage was prevalent among most fighters. Unless we do something drastically to protect our children who play the sport from getting concussions, the fear is that elementary schools and high schools will place a ban on football as well. This ban could be forced upon the schools by lawyers and even insurance companies. Or the cost of educating our children could become greatly expensive by the cost of insurance premiums for children who play football. In 2013, eight high school students die directly from on-field injuries in a game, five in 2014, seven in 2015, and at least three died in 2016.[9] These incidents lead a number of school districts to shut down their football programs because of safety concerns.[10] The number of male high school football players has fallen to about 1.08 million in 2015, a 2.4% decline from five years ago.[11] And the case reported about youth football or “pee-wee football” whose players are primary school students (the age of 5 to 15) is even worse. When Dr. Ann McKee, the neuropathologist and head of Chronic Traumatic Encephalopathy Center (CTE Center) at Boston University, testified before a House Judiciary committee on football brain injuries in 2009, she said that “because a young athlete’s brain is still developing, the effects of a concussion, or even many smaller hits over a season, can be far more detrimental, compared to the head injury in an older player.”[12] A recent statistical data, seen as confirming McKee’s view, indicate that the rate of concussions in elementary level football games has been much higher than both high school and college football. Youth football players (ages 8-12) were 26 times more likely to receive a concussion in a game than in practice.[13] There are numerous youth/pee-wee leagues among which the largest league is Pop Warner, which boasts over 400,000 boys and girls participating in its programs and over 5,000 football teams in the United States today.[14] And most high school football programs, whether the schools are public or private, are governed by the National Federation of State High School Associations (NFHS), as the NFHS writes rules for the football programs’ practices and games. It seems as if these organizations began to address the safety concerns and propose various programs and rules. However, it seems far from that their guidelines or protocols are concrete enough or effective to protect these young players from the known dangers of the sport, particularly from developing CTE. Thus, we propose our own rather concrete and exhaustive recommendations which can serve to be included as part of their guidelines or procotocols and to set some research directions for the scientific community dedicated to preventive pediatric sports health related to football. The methodological approach we take in proposing our recommendations is creative as well as eclectic, in the sense that we will investigate other organizations’ suggestions and, when evaluated as viable, include them as our own. To proceed now, this paper, focusing on TBI and CTE, will survey the historical and medical narratives about head injury and contact sports, particularly American football; examine the current controversies and difficulties that have occurred with research procedures and results of the scientific communities on head injury and football; investigate the currently proposed football practiceguidelines and game-rules by football organizations; lastly, propose recommendations. The Effect of Chronic Traumatic Encephalopathy (CTE) on Elementary and Secondary Student Football Players and Preventive Guidelines 3 of 19 [1] “What You Need to Know About Brain Injuries & Concussions,” Brain Injury Research Institute, accessed Oct. 18, 2016, http://www.protectthebrain.org/FAQs.aspx.
Objectives To examine whether using an amplitude-integrated electroencephalography (aEEG) severity pattern as an entry criterion for therapeutic hypothermia better selects infants with hypoxic-ischemic encephalopathy and to assess the time-to-normal trace for aEEG and magnetic resonance imaging (MRI) lesion load as 24-month outcome predictors.Study design Forty-seven infants meeting Norwegian therapeutic hypothermia guidelines were enrolled prospectively. Eight-channel EEG/aEEG was recorded from 6 hours until after rewarming, and read after discharge. Neonatal MRI brain scans were scored for summated (range 0-11) regional lesion load. A poor outcome at 2 years was defined as death or a Bayley Scales of Infant-Toddler Development cognitive or motor composite score of <85 or severe hearing or visual loss.Results Three severity groups were defined from the initial aEEG; continuous normal voltage (CNV; n = 15), discontinuous normal voltage (DNV; n = 18), and a severe aEEG voltage pattern (SEVP; n = 14). Any seizure occurrence was 7% CNV, 50% DNV, and 100% SEVP. Infants with SEVP with poor vs good outcome had a significantly longer median (IQR) time-to-normal trace: 58 hours (9-79) vs 18 hours (12-19) and higher MRI lesion load: 10 (310) vs 2 (1-5). A poor outcome was noted in 3 of 15 infants with CNV, 4 of 18 infants with DNV, and 8 of 14 infants with SEVP. Using multiple stepwise linear regression analyses including only infants with abnormal aEEG (DNV and SEVP), MRI lesion load significantly predicted cognitive and motor scores. For the SEVP group alone, time-tonormal trace was a stronger outcome predictor than MRI score. No variable predicted outcome in infants with CNV.Conclusions Selection of infants with encephalopathy for therapeutic hypothermia after perinatal asphyxia may be improved by including only infants with an early moderate or severely depressed background aEEG trace.
We report the case of a neonate who likely developed symptoms of Neonatal Abstinence Syndrome after in-utero exposure to gabapentin for treatment of maternal chronic pain. The neonate developed symptoms of hypertonicity, tremor, and poor feeding twelve hours after delivery. Although the neonate wasbriefly exposed to the benzodiazepine alprazolam and the opioid oxycodone, the withdrawal symptoms were not characteristic of opioid or benzodiazepine withdrawal, such as hyperphagia, vomiting and loose stools. Due to a high suspicion of gabapentin withdrawal, the neonate was successfully treated with gabapentin and clonidine. Neonatal abstinence syndrome from gabapentin has been reported in the past [1] but in each of the reports the diagnosis has been questioned due to the prolonged maternal use of multiple other agents. We present a case with distinctly different symptoms of NAS after maternal exposure to gabapentin with discussion of the diagnosis, treatment and management of these neonates. Case Study Brzenski and Greenberg; IJMPCR, 3(5): 116-120, 2015; Article no.IJMPCR.2015.047 117
Tissue donation is a crucial element of cancer research and as a result of the lack of tissue samples, survival rates for brain cancer have not changed significantly in approximately fifteen years. Due to a particular shortage in brain tissue, children with central nervous system tumors do not have a favorable prognosis as compared to other types of cancers. With increased tissue donation, research in this field can function more efficiently to better understand pediatric tumor biology. This would almost certainly lead to the development of more effective therapies, and ideally, improvement in survival rates. Today, there is no standard method of approaching families of children with cancer for tissue donation. As a result, there are different levels of success for physicians. This paper will propose ways to encourage physicians to discuss the donation of biopsy and autopsy tissues with the families of children with cancer in the most effective, compassionate, and ethical manner. In order to reduce stress for families in such difficult decisions, it is important to outline the methods of approaching families. In addition, specific protocols for limited autopsy will be examined, as the samples recovered by these autopsies is the primary source of tissue used for research in this field. The ultimate goal of this paper is to increase the frequency of tissue donation in pediatric brain cancer through education of physicians, patients, and their families. A legal and ethical analysis of all potential solutions will be conducted, forming the basis of recommendations, and conclusions will be made.
Goals: Report diagnostic, therapeutic aspects and outcome of intestinal atresia in our context of developing countries. Patients and methods: This is a retrospective descriptive study from January 2009 to December 2012. We compiled 10 cases of intestinal atresia with an average age of 4.2 days and a sex ratio of 0.67. We used clinical and paraclinical, treatment and outcome. Results: The clinical picture was that of a bowel obstruction flat stomach in eight cases and bloated stomach in two cases. Three patients had associated malformations. Radiography of the abdomen was performed in all patients showing air-fluid pictures in seven patients and a double bubble appearance in three patients. Surgical exploration found duodenal atresia, jejuno ileal atresia, and colonic atresia. Patients who had jejunoileal atresia were treated by resection followed by end-toend anastomosis in one case and resection stoma in six other cases. The patient who had a bowel atresia received a lateral terminal colostomy. The resumption of diet was started in average on the third postoperative day. Postoperative morbidity consisted mainly of electrolyte disturbances in seven cases and parietal abscesses in four cases. Conclusion: The mortality of intestinal atresia remains high in our context despite surgical treatment. The improved prognosis must pass through the establishment of neonatal intensive care unit, the availability of total parenteral nutrition and strengthening the technical platform.
Background: Perinatal mortality is a major problem in public health in Burkina Faso. This article aims at estimating the human and material resources for the resuscitation and the essential care of newborn children in three reference regional hospitals of Burkina Faso. Method: We conducted a transverse descriptive study in the regional hospitals of Koudougou, Dedougou, and Dori. The data were collected from January 5 to 17, 2015. The available material (equipment) for neonatal resuscitation and the essential care of the newborns during birth was listed and estimated. The knowledge and the practices of 91 agents of health regarding resuscitation, essential care of the newborn child at birth, and their job satisfaction were recorded. Results: Two regional hospitals had a pediatrician and a gynecologist-obstetrician on staff. The number of staff specialized in neonatal resuscitation was acceptable but the special knowledge and the practice of mechanisms of resuscitation as well as the essential care of the newborn child were badly mastered. However, 67 (73,93 %) staff members were satisfied by their work. One regional hospital had the minimally required equipment and the staff displayed good quality care. Conclusion: The capacity of these public sanitary reference trainings regarding resuscitation and essential care of the newborn child at the birth is low. To reduce the neonatal mortality, the subsidy of these sanitary structures is imperative in order to achieve good quality and adequate equipment as well as strengthening the skills of the staff.
The centralisation of paediatric intensive care services, along with the development of regional retrieval teams, was designed to optimise patient care through the concentration of specialist skill. There has been concern that as a consequence this would lead to a reduced ability of referring hospitals to carry out primary critical care intervention measures prior to transfer, as well as having a significant impact on families.
A hormetic dose-response relationship is nonlinear where adverse responses typically occur in the lowest and highest dose ranges, while optimum responses occur between these extremes. Typically, dose variables in this context are substances such as vitamins, or stressors such as radiation or exercise. Age is theorized in this study to also be adosevariable, having a possible hormetic effect on death rates early in life. The study compared consecutive yearly ages up to age 84 (thedose � variable) to all-cause crude death rates (response variable). At the youngest age (lowestdose �), < 1 years old, the death rate was relatively high, followed by a decreased death rate for each passing year to around age seven. Beginning around age 10, death rates tended to increase with each passing year through the remainder of years, as expected. Thus, age and death rates show a dose-response relationship that appears hormetic in the early years of life (e.g., age 0 to 7). Implications of the study may pertain to investigating possible mechanisms for this relationship and understanding of the relationship may lead to innovative health care interventions that could promote longevity. The body has an innate (inborn) striving to maintain and heal itself, and the study shows an example of this striving in the form of what appears to be a hormetic dose-response regarding death rates and early years of life. Published online on September 9th, 2015.
Rhizomelic Chondrodysplasia Punctata (RCDP), a rare autosomal recessive disorder due to defective peroxisome metabolism, is characterized by symmetrical shortening of the proximal long bones (Rhizomelia), radiological evidence of punctate calcifications in cartilage (chondrodysplasia punctata),congenital cataract, icthyotic skin changes and dysmorphic facial features. We report a case of neonate with clinical and radiological features suggestive of RCDP. BACKGROUND Rhizomelic Chondrodysplasia Punctata (RCDP), is a rare autosomal recessive, peroxisome biogenesis disorder with an estimated incidence of 1 in 100000 1 . There are 3 genetic subtypes based upon biochemical or molecular genetic testing. RCDP type 1 (OMIM 215100), the most common type is caused by mutations in the PEX7 gene, RCDP type 2 (OMIM 222765) and 3 (OMIM 600121) are single enzyme defects in the plasmalogen biosynthesis pathway.1,2 “Classical features of the RCDP are proximal symmetrical shortening of the humerus and to a lesser degree the femur , radiologically evident punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctate), coronal clefts of the vertebral bodies 3, multiple joint contractures, icthyotic skin changes, cataract, psychomotor retardation and dysmorphic facial features like depressed nasal bridge, broad nose, long philtrum and macrostomia”.1 Diagnosis of is based on clinical and radiologic findings and can be confirmed by molecular analysis.4 Prenatal diagnosis is feasible when the causative mutation has already been identified in the family.5 Specific treatment is not available for the enzyme defect. RCPD has a very poor prognosis with death occuring mainly due to respiratory complications,during the first decade of life.6 We present a case of RCDP with characteristic clinical and radiological features. CASE REPORT A full term female neonate was born of 3rd degree consanguineous marriage by spontaneous vaginal delivery to a 25 year old third gravida mother. Baby was admitted at birth with complaints of respiratory distress and abnormal extremities. Mother was diagnosed hypothyroidism three years back and was receiving L-Thyroxine since then .Mother had spontaneous abortion 3 years back in first trimester and an ectopic pregnancy 2 years back, for which exploratory laparotomy was done. There was no history of teratogen exposure particularly warfarin therapy or alcohol use during pregnancy. Prenatal ultrasonographic assessments reported proximal limb shortening. On Clinical examination baby weight was 3000 gms (15th 50th percentile), Head circumference 36 cm (85th – 97th percentile), Length 48 cm (15th 50th percentile). Baby had proximal symmetrical shortening of the humerus and to a lesser degree the femur with flexion contractures in all extremities, midfacial hypoplasia with a depressed nasal bridge and anteverted nares with a short neck with nuchal fullness and ichthyotic skin changes.(Figure 1) Ophthalmological examination showed cataract and megalocornea (Figure 2) in both eyes. Radiographic studies showed symmetrical, bilateral, proximal shortening of upper and lower limbs with multiple punctate calcifications in the epiphyseal cartilage in shoulder, elbow, hip and knee joints. (Figure 3) Rhizomelic Chondrodysplasia Punctata: A Case Report 2 of 4 Biochemical profile and genetic assay could not be done due to financial constraints. Based on clinical and radiological findings, baby was diagnosed as Rhizomelic Chondrodysplasia Punctata. Baby died on day five of life due to respiratory complications. Figure 1 Depicting Rhizomelia and characteristic facial features Figure 2 Showing megalocornea and cataract Figure 3 Showing Epiphyseal Stippling at Shoulder, Elbow and Hip Joints DISCUSSION “RCDP Type 1 involves mutations in the PEX7 gene, which encodes enzymes for peroxisome function. RCDP Types 2 and 3 are similar to RCDP Type 1, but result from deficiencies of peroxisomal enzymes dihydroxyacetone phosphate acyltransferase and alkyl dihydroxyacetone phosphate synthase respectively”1. RCDP can be diagnosed through clinical and classical radiological features as described,along with biochemical findings of low levels of plasmalogens in red blood cells, increased plasma levels of phytanic acid, and normal plasma levels of very long chain fatty acids.1 Our patient had characteristic proximal limb shortening with cataract with joint contractures and typical radiological findings supporting the diagnosis of RCDP. Biochemical profile and genetic assay were not done due to financial constraints.7 “Other causes of calcific epiphysial stippling include fetal warfarin syndrome (due to maternal exposure) 8, maternal Rhizomelic Chondrodysplasia Punctata: A Case Report 3 of 4 autoimmune disease like systemic lupus erythrematosus 9 several peroxisomal disorders including Zellweger syndrome spectrum, Smith Lemli Opitz syndrome, Trisomy 18 and 21”1. In our case, there was no history or clinical features suggestive of above mentioned disorders . Other malformations with RCDP like cleft palate, congenital heart disease 10 and ureteropelvic junction obstruction, were not observed in our case. Prognosis is very poor, most of the affected children die within first decade of life due to respiratory complications. There is no specific therapy for the gene defect. Management is supportive which includes cataract surgery, seizure control, vision & hearing assessment, growth monitoring, physiotherapy, occupational therapy and genetic counseling. Genetic counseling is important as this disorder can be diagnosed prenatally during the first trimester by demonstrating the peroxisomal dysfunction in cultured chorionic villous or amniotic fluid cells and in the second trimester of pregnancy by detecting rhizomelic shortenings of humeri & femur and punctate stippling of epiphysis. References 1. Braverman NE, Moser AB, Steinberg SJ. Rhizomelic Chondrodysplasia Punctata Type 1. : Pagon RA, Bird TD, Dolan CR, Stephens K et al., editors, GeneReviews [Internet] Seattle: University of Washington; Initial Posting: November 16, 2001; Last Update: September 13, 2012. 2. Kliegman R, Stanton B, St Geme J, Schor N, Behrman R, Kleigman R, et al., editors: Disorders of Very Long Chain Fatty Acids.Nelson Textbook of Pediatrics.19th ed. Philadelphia: Elsevier Publishers and Distributors; 2012. p.462‐7. 3. Karabay N, Keskindemirci G, Adal E, Korkmaz et al. A Case of Rhizomelic Chondrodysplasia Punctata in Newborn . Hindawi Publishing Corporation : Case Reports in Medicine Volume 2014, Article ID 879679, 3 pages http://dx.doi.org/10.1155/2014/879679 4. Phadke S, Gupta N, Girisha K, Kabra M, Maeda M, Vidal E, et al. Rhizomelic chondrodysplasia punctata type 1: Report of mutations in 3 children from India. J Appl Genet 2010; 51:107‐10. 5. Hertzberg BS, Kliewer MA, Decker M,Miller CR, Bowie JD et al., Antenatal Ultrasonographic Diagnosis of Rhizomelic Chondrodysplasia Punctata. J Ultrasound Med 1999; 18:715–718. 6.White AL, Modaff P, HollandMorris F, Pauli RM. Natural history of rhizomelic chondrodysplasia punctate .Am J Med Genet A. 2003 May 1;118A(4):332-42 7. Thakkar PA, Tripathi N, Aiyer S. Case Report on Short Limb Dwarfism – Rhizomelic Chondrodysplasia Punctata. J Clin Neonatol. April-June 2015;4(2):135-7 8. Herman TE, Siegel MJ. Warfarin-induced brachytelephalangic chondrodysplasia Punctate. Journel of Perinatology 2010 June; 30(6): 4378 9. Roy A, De P, Chakraborty S. Rhizomelic chondrodysplasia punctate with maternal systemic lupus erythromatosus. Indian Pediatr 2013;50:605‐7 10. Huffnagel IC, Clur SA, Bams-Mengerink AM, Blom NA, Wanders RJ, et al,. Rhizomelic chondrodysplasia punctata and cardiac pathology.J Med Genet 2013 April;50:419-24. Rhizomelic Chondrodysplasia Punctata: A Case Report 4 of 4 Author Information Trupti Joshi, Assistant Professor Neonatology NICU, Dept of Pediatrics, Government Medical College Hospital Aurangabad, India Amol Joshi, Assistant Professor Neonatology NICU, Dept of Pediatrics, Government Medical College Hospital Aurangabad, India Rakesh Chikhlonde, Post Graduate Student NICU, Dept of Pediatrics, Government Medical College Hospital Aurangabad, India L S Deshmukh, Professor Neonatology NICU, Dept of Pediatrics, Government Medical College Hospital Aurangabad, India
Background: Despites the advances in transport, intensives care unit and new treatments modalities, conjoined twins continue to pose a significant challenge for paediatric surgeons. This study was undertaken to highlight the peculiarities of the management of conjoined twins in a poor resource setting. Methods: All confirmed cases of conjoined twins were prospectively documented from 2001 to date at the Charles De Gaulle Paediatric Teaching Hospital in Ouagadougou (Burkina Faso). Results: Three cases were recorded: one case of thoraco-omphalopagus conjoined twins, born prematurely by elective caesarean surgery and transferred at the second hour of life, one case of pygomelus conjoined twins with two phalluses, and one last case of epigastric heteropagus conjoined twins naturally delivered at home at term and transferred at 15 days and three months of age, respectively. All our patients were male. Antenatal diagnosis was made in one case. Associated malformations were found in two patients. Thoraco-omphalopagus twins who shared the breastbone, liver, heart, and transverse colon died at day 38 of life from heart failure before any treatment. The two others were successfully operated by surgical resection separation of the parasitic twin at 30 days of life for the epigastric heteropagus conjoined twins and four and a half months for pygomelus conjoined twins. Conclusion: The management of conjoined twins is difficult in the context of Sub-Saharan Africa developing countries. Their survival depends on an early detection by prenatal diagnosis, the creation of intensive care units, the inclusion of major congenital malformations in national neonatal programs for the integrated care of mother and child diseases and the development of partnership between hospitals in the South and those in the North.
