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Cureus Dec 2023Rectal duplication is a rare congenital anomaly with many clinical presentations, being mostly asymptomatic. Treatment consists of a surgical approach with a good...
Rectal duplication is a rare congenital anomaly with many clinical presentations, being mostly asymptomatic. Treatment consists of a surgical approach with a good prognosis. We are reporting a case of a full-term female newborn who presented with a mass externalized through the sacral region. The first diagnostic hypothesis was meningomyelocele, but the neurosurgeon verified peristalsis on examination with a surgical microscope. The pediatric surgery team proceeded with the investigation with barium enema, anal electrostimulation, biopsy, and pelvis MRI, confirming presacral rectal duplication. The patient underwent surgery for posterior sagittal surgical excision, with satisfactory evolution. Cases of rectal duplication are rare and we are unaware of reports of its exteriorization through the sacral region. Such presentation may mimic other diagnoses and should be included in the differential diagnosis of meningomyelocele.
PubMed: 38161530
DOI: 10.7759/cureus.51306 -
Journal of Pediatric Rehabilitation... 2023
Topics: Humans; Retrospective Studies; Meningomyelocele; Cause of Death; Causality; Risk Factors
PubMed: 38143400
DOI: 10.3233/PRM-230068 -
Journal of Pediatric Rehabilitation... 2023This study aimed to analyze organ system-based causes and non-organ system-based mechanisms of death (COD, MOD) in people with myelomeningocele (MMC), comparing...
PURPOSE
This study aimed to analyze organ system-based causes and non-organ system-based mechanisms of death (COD, MOD) in people with myelomeningocele (MMC), comparing urological to other COD.
METHODS
A retrospective review was performed of 16 institutions in Canada/United States of non-random convenience sample of people with MMC (born > = 1972) using non-parametric statistics.
RESULTS
Of 293 deaths (89% shunted hydrocephalus), 12% occurred in infancy, 35% in childhood, and 53% in adulthood (documented COD: 74%). For 261 shunted individuals, leading COD were neurological (21%) and pulmonary (17%), and leading MOD were infections (34%, including shunt infections: 4%) and non-infectious shunt malfunctions (14%). For 32 unshunted individuals, leading COD were pulmonary (34%) and cardiovascular (13%), and leading MOD were infections (38%) and non-infectious pulmonary (16%). COD and MOD varied by shunt status and age (p < = 0.04), not ambulation or birthyear (p > = 0.16). Urology-related deaths (urosepsis, renal failure, hematuria, bladder perforation/cancer: 10%) were more likely in females (p = 0.01), independent of age, shunt, or ambulatory status (p > = 0.40). COD/MOD were independent of bladder augmentation (p = >0.11). Unexplained deaths while asleep (4%) were independent of age, shunt status, and epilepsy (p >= 0.47).
CONCLUSION
COD varied by shunt status. Leading MOD were infectious. Urology-related deaths (10%) were independent of shunt status; 26% of COD were unknown. Life-long multidisciplinary care and accurate mortality documentation are needed.
Topics: Female; Humans; Meningomyelocele; Retrospective Studies; Cause of Death; Ventriculoperitoneal Shunt; Hydrocephalus
PubMed: 38073338
DOI: 10.3233/PRM-220086 -
Cureus Nov 2023In the present study, neonates presenting with neural tube defects (NTDs) and undergoing observation within the confines of the neonatal intensive care unit (NICU) were...
INTRODUCTION
In the present study, neonates presenting with neural tube defects (NTDs) and undergoing observation within the confines of the neonatal intensive care unit (NICU) were subjected to a comprehensive assessment encompassing concurrent morbidities, clinical manifestations, laboratory parameters, and instituted interventions.
MATERIALS AND METHODS
A retrospective examination was conducted on the medical records of 135 neonates diagnosed with congenital NTD within the temporal span from 2008 to 2018. The study cohort was drawn from the NICU of the Health Sciences University Erzurum Regional and Research Hospital Health Practice and Research Center.
DISCUSSION
The current investigation encompasses a retrospective analysis of 135 patients diagnosed with NTD who received treatment at the NICU between the years 2008 and 2018. Among these, 74 individuals (54.2%) were male, while 61 (45.8%) were female. Maternal ages ranged from 17 to 46 years, with variations in the number of pregnancies, ranging from 1 to 10. Notably, 71 cases (52.6%) were delivered through normal spontaneous delivery, whereas 64 cases (47.4%) underwent cesarean section. The familial context revealed that five patients (3.6%) had siblings with a history of NTD, while no instances were noted where mothers had received antenatal folic acid support. Birth weights of the neonates ranged from 1425 to 4500 grams. Consanguinity was identified in the parental relationships of 17 cases (12.6%). The average diameter of the neural tube sac was determined to be 4.83 ± 1.94 cm (1-12 cm). Predominantly, the lumbosacral region emerged as the most common site of NTD, with meningomyelocele being the prevailing NTD type. Hydrocephalus coexisted in 67 cases, and notably, 44 instances exhibited the development of hydrocephalus post-sac operation. Eight patients were deemed inoperable, and the initial surgery transpired at an average age of 4.3 ± 2.6 (0-17) days. Flap closure constituted 32 of the surgical interventions, while primary closure was implemented in 95 cases. Neurogenic bladder antedated the operation in 14 patients, and 12 individuals developed neurogenic bladder postoperatively. Ventriculoperitoneal shunt placement was warranted in 47 patients. The average duration of hospitalization was 22.5 ± 14.4 days. Regrettably, three patients died due to complications and infections during their hospital stay.
RESULT
NTD represents a significant cohort of pathologies necessitating a comprehensive and interdisciplinary management strategy. These anomalies are characterized by elevated morbidity and mortality rates, not only exerting substantial financial strains on societal, familial, and state healthcare resources but also inflicting profound emotional distress upon affected families. Crucially, periconceptional strategies emphasizing balanced nutrition coupled with targeted multivitamin and mineral supplementation, particularly the inclusion of folic acid, assume paramount importance in the prophylaxis of this debilitating condition.
PubMed: 38024033
DOI: 10.7759/cureus.48886 -
JA Clinical Reports Nov 2023
PubMed: 37924425
DOI: 10.1186/s40981-023-00666-0 -
Cureus Sep 2023Cri-du-chat syndrome (CdCS) is a rare genetic disorder in which the short arm of chromosome 5 is deleted. This report aims to highlight a rare association with the...
Cri-du-chat syndrome (CdCS) is a rare genetic disorder in which the short arm of chromosome 5 is deleted. This report aims to highlight a rare association with the syndrome. We present a preterm male delivered at 35 weeks gestation with an antenatal diagnosis of meningomyelocele. The patient's clinical examination revealed ruptured lumbosacral meningomyelocele, lower limb hypotonia, and hyporeflexia. The patient also displayed dysmorphic features, including microcephaly, a rounded face, low-set ears, and club feet. In addition, he is noted to have a high-pitched cry. Diagnosis of Chiari tonsil hernia type II was made by magnetic resonance imaging, and whole exome sequencing has confirmed CdCS. The spina bifida was surgically corrected, and the patient has since been cared for by a multidisciplinary team. The patient's short-term follow-up revealed a significant developmental delay. Few cases of CdCS associated with meningomyelocele have been reported. More evidence is needed to support a relevant association between CdCS and meningomyelocele.
PubMed: 37908952
DOI: 10.7759/cureus.46279 -
Acta Biochimica Polonica Oct 2023Myelomeningocele (MMC) is a congenital disease. For a long time, molecular mechanism of MMC, the role of folate receptor and transporter proteins remain unclear. Folate...
Myelomeningocele (MMC) is a congenital disease. For a long time, molecular mechanism of MMC, the role of folate receptor and transporter proteins remain unclear. Folate from maternal lumen to developing embryo is carried out with the help of folate transporters (SLC46A1, SLC19A1, FOLH1 and SLC25A32) and folate receptor (FOLR1, FOLR2 and FOLR3). Due to the loss of function of these important genes, complications can facilitate the risk of MMC. This study focused on the mutational analysis of FOLR1 and FOLR2 genes in children suffering from MMC. Myelomeningocele is a rare disorder so twenty blood samples from the children were collected. Primers of selected exons for FOLR1 and FOLR2 genes were designed with the help of PrimerFox software. Extracted DNA was amplified, and PCR based mutational analysis was done to check any type of mutation/SNPs in these genes. Sanger sequencing method was performed to confirm mutation in FOLR1 and FOLR2 genes. The results showed that certain environmental factors (smoking, low socio-economic status of mother bearing MMC fetus) were found to be significantly (P<0.05) associated with MMC but no mutation in the selected exons of FOLR1 and FOLR2 genes was detected. Thus, genetic variations in the folate transporter gene may have no role in the progression of MMC in the studied population.
Topics: Child; Humans; Meningomyelocele; Carrier Proteins; Exons; Folic Acid; Folate Receptor 1; Proton-Coupled Folate Transporter; Folate Receptor 2
PubMed: 37883728
DOI: 10.18388/abp.2020_6729 -
Journal of Indian Association of... 2023A 7-day-old male child presented with abdominal distention and jaundice. Radiological investigations revealed an encapsulated sac encasing three fetus-in-fetu (FIF) in...
A 7-day-old male child presented with abdominal distention and jaundice. Radiological investigations revealed an encapsulated sac encasing three fetus-in-fetu (FIF) in the retroperitoneum. Laparotomy revealed a sac occupying almost the whole of the abdomen. The sac was stretching the duodenum and barely visible common bile duct, which were carefully separated. The rest of the bowel was displaced to the left. The sac containing three FIFs was excised intact. One of the fetuses was highly differentiated and had thoracic meningomyelocele, which has never been reported in FIF.
PubMed: 37842209
DOI: 10.4103/jiaps.jiaps_113_23 -
Prosthetics and Orthotics International Apr 2024Orthotic devices are required for walking in many individuals with myelomeningocele. Evidence concerning orthosis use is sparse, partly because of heterogeneity among...
BACKGROUND
Orthotic devices are required for walking in many individuals with myelomeningocele. Evidence concerning orthosis use is sparse, partly because of heterogeneity among groups and different definitions of the neurological level.
OBJECTIVES
The objective of this study was to investigate ambulation regarding orthosis use and satisfaction with orthoses after intense orthotic management during childhood.
STUDY DESIGN
The study design is a retrospective follow-up with a cross-sectional study at adult age.
METHODS
Participants comprised 59 persons born in 1985 or later. Ambulation was categorized as community (Ca), household (Ha), nonfunctional (N-f), and nonambulation (N-a) groups. Orthosis use was registered at approximately 5 (Age5) and 12 (Age12) years of age and in adulthood (AdultAge). Satisfaction with orthoses was evaluated at AdultAge.
RESULTS
At Age5, Age12, and AdultAge, orthoses were used by 100%, 98%, and 78% of participants, respectively. Ambulation deteriorated between Age5 and Age12 in 17% of participants and between Age12 and AdultAge in 46%. At AdultAge, 63% maintained their ambulatory function; and muscle function and hip and knee flexion contractures were strongly correlated with ambulation. The ambulation groups did not differ regarding satisfaction with device or services, except in 2 single items where the Ha group differed in ratings from the N-f and N-a groups.
CONCLUSION
The high frequency of orthosis use and similar satisfaction in all ambulation groups emphasize that early planning and follow-up of orthosis treatment during growth are important for mobility in adulthood. Our results also underline the importance of a close assessment of each individual's condition.
Topics: Adult; Humans; Meningomyelocele; Retrospective Studies; Cross-Sectional Studies; Walking; Orthotic Devices
PubMed: 37725508
DOI: 10.1097/PXR.0000000000000279 -
Veterinary Medicine and Science Nov 2023Open spina bifida is an uncommon malformation in animals, and there is a lack of imaging, clinical, and pathological characterisation of this condition in dogs.
BACKGROUND
Open spina bifida is an uncommon malformation in animals, and there is a lack of imaging, clinical, and pathological characterisation of this condition in dogs.
OBJECTIVE
Open spina bifida is rarely observed in animals due to high levels of perinatal mortality and frequent euthanasia. To the best of our knowledge, we present the first case of spina bifida in a dog was diagnosed in-utero and then followed post-partum.
METHODS
A 3-year-old Poodle was presented with twin pregnancy. Radiographic and ultrasonographic findings were suggestive of vertebral malformation and open spina bifida with myelomeningocele in one foetus. Conservative treatment was given but the puppy died 3 days after birth. Thereafter, anatomical and histopathological analysis of several organs was performed to characterise the disease.
RESULTS
When the twins were born, one puppy had a linear dorsal midline cutaneous defect extending from the level of vertebrae L2-L6. R Radiographic examination showed several congenital vertebral malformations involving the thoracic segment, lumbar segment, sacrum and scapula. Histopathological examinations confirmed the presence of open spina bifida and identified additional abnormalities in several internal organs.
CONCLUSIONS
This case presents a complete characterisation of open spina bifida, before birth and after death, using imaging and histopathology techniques.
Topics: Pregnancy; Female; Dogs; Animals; Spina Bifida Cystica; Spinal Dysraphism; Meningomyelocele; Fetus; Dog Diseases
PubMed: 37705413
DOI: 10.1002/vms3.1266