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Journal of the Belgian Society of... 2023To investigate the computed tomography and magnetic resonance imaging manifestations of Joubert syndrome (JS).
OBJECTIVE
To investigate the computed tomography and magnetic resonance imaging manifestations of Joubert syndrome (JS).
METHOD
In this retrospective analysis, we investigated the clinical and imaging characteristics of JS in a cohort of twelve pediatric patients with confirmed diagnoses. Specifically, we analyzed both computed tomography (CT) and magnetic resonance imaging (MRI) manifestations in this population. CTs were performed on four patients and MRIs were performed on twelve, respectively.
RESULTS
JS is characterized by specific CT and MRI findings, including midline fissure, batwing, or triangular formations of the fourth ventricle between the bilateral cerebellar hemispheres, and molar sign at the midbrain level. All twelve cases in this cohort exhibited these traits, along with other cerebral abnormalities, such as dysplasia of the corpus callosum in two cases, gray matter heterotopia in one case, and occipital meningocele in one case.
CONCLUSION
JS has distinctive CT and MRI characteristics that can be clinically identified.
PubMed: 37781478
DOI: 10.5334/jbsr.3283 -
The Canadian Veterinary Journal = La... Oct 2023This report describes the clinical, computed tomography, and magnetic resonance imaging findings for a Jacob sheep lamb diagnosed with meningoencephalocele and...
This report describes the clinical, computed tomography, and magnetic resonance imaging findings for a Jacob sheep lamb diagnosed with meningoencephalocele and supernumerary ectopic limb. Key clinical message: This case demonstrates the utility of tomographic imaging in diagnosing congenital malformations in sheep and can be used to assess the extent of the lesion. This may help to determine any viable treatment, or, as in the case presented here, determine that the extent of the lesion precludes surgical intervention.
Topics: Animals; Sheep; Encephalocele; Meningocele; Occipital Bone; Extremities; Tomography, X-Ray Computed; Magnetic Resonance Imaging; Sheep Diseases
PubMed: 37780471
DOI: No ID Found -
Children (Basel, Switzerland) Sep 2023Patients with spinal abnormalities often struggle with fecal and/or urinary incontinence (up to 87 and 92%, respectively) and require a collaborative approach to bowel... (Review)
Review
BACKGROUND
Patients with spinal abnormalities often struggle with fecal and/or urinary incontinence (up to 87 and 92%, respectively) and require a collaborative approach to bowel management in conjunction.
METHODS
To define existing approaches and propose state-of-the-art bowel management, a literature search was performed using Medline/PubMed, Google Scholar, Cochrane, and EMBASE databases and focusing on the manuscripts published July 2013 and July 2023.
RESULTS
Patients with spinal anomalies have impaired innervation of the rectum and anal canal, decreasing the success rate from laxatives and rectal enemas. Thus, transanal irrigations and antegrade flushes are widely utilized in this group of patients. Based on spinal MRI, the potential for bowel control in these children depends on age, type, and lesion level. On referral for bowel management, a contrast study is performed to assess colonic motility and evacuation of stool, followed by a series of abdominal X-rays to define colonic emptying and adjust the regimen. The options for management include laxatives, rectal enemas, transanal irrigations, antegrade flushes, and the creation of a stoma. Approximately 22-71% of patients achieve social continence dependent on the type and level of the lesion.
CONCLUSION
Patients with spinal anomalies require a thorough assessment for continence potential and stool burden prior to initiation of bowel management. The optimal treatment option is defined according to the patient's age, anatomy, and mobility. The likelihood of independent bowel regimen administration should be discussed with the patients and their caregivers.
PubMed: 37761519
DOI: 10.3390/children10091558 -
Pediatric Health, Medicine and... 2023There is a huge burden of neural tube defect (NTD) in Ethiopia, and surgical management is not readily available. We aimed to assess the clinical profile and hospital...
BACKGROUND
There is a huge burden of neural tube defect (NTD) in Ethiopia, and surgical management is not readily available. We aimed to assess the clinical profile and hospital outcome of children with NTD that were operated in Hawassa University Comprehensive Specialized Hospital, Hawassa, Ethiopia.
METHODS
A retrospective cross-sectional study on 250 children with NTD that were treated in a tertiary hospital from March 2016 to May 2020 was conducted to describe the clinical profile and treatment outcome at discharge. Logistic regression analysis was carried out to evaluate factors that determine mortality.
RESULTS
Out of the 250 children, 50.4% were male. Myelomeningocele was the most common type of NTD (77.2%) followed by meningocele (10.4%). Only 3 mothers (1.2%) received periconceptional folic acid. Prenatal diagnosis of NTD was made in only 22 (8.8%) cases. 52.8% of the NTDs were ruptured at presentation and 50.8% had associated sepsis. At presentation, 42.4% were ≤72 hours of age and only 18 neonates (7.2%) were operated within 72 hours of admission. 54% had associated hydrocephalus, 31.6% had Chiari II malformation and 19.6% had club foot. Surgical site infection, post MMC repair hydrocephalus, and meningitis were seen in 8%, 14% and 16.8% of the participants, respectively. The mean duration of hospitalization was 24 ± 14.4 days. Twenty patients (8%) died before discharge from hospital. Prematurity [AOR: 26 (95% CI: 8.01, 86.04), P < 0.001] and the presence of meningitis [AOR: 3.8 (95% CI: 1.12,12.9), P = 0.03]were determinants of mortality.
CONCLUSION
NTDs are substantial health problem in this part of the country. Periconceptional folic acid supplementation is almost non-existent. Prenatal detection of NTDs is very low and management is delayed in the majority of cases. Myelomeningocele is the most common type of NTD. There is high in-hospital mortality, and prematurity and the presence of meningitis are its determinants.
PubMed: 37746523
DOI: 10.2147/PHMT.S421868 -
International Medical Case Reports... 2023Protrusion of cerebrospinal fluid and meninges is called meningocele. Meningoencephalocele is a protrusion of neural tissue and meninges. The incidence of an...
BACKGROUND
Protrusion of cerebrospinal fluid and meninges is called meningocele. Meningoencephalocele is a protrusion of neural tissue and meninges. The incidence of an Encephalocele is 1 in every 5000 live births. Anterior encephalocele is more common in men, while occipital encephalocele is seen in 70% of women. In a large encephalocele, the head size is small. Encephaloceles can occasionally be very large and are called giant encephaloceles. Occipital encephaloceles accounted for 80% to 90% of encephalocele cases in the western hemisphere. Encephaloceles vary in size and content. Various factors affecting the prognosis of patients with occipital encephalocele. Among them: extent, amount of brain tissue in the sac with or without Dural venous sinuses in the sac, with the brain or occipital lobe with hydrocephalus or presence of ventricles. Rarely, the sagittal and transverse sinuses are adjacent to the sac.
CASE PRESENTATION
This is a case of an 8-month old male infant born to a mother who had no regular antenatal care. After the baby presented with progressively increasing posterior head mass which is cystic, transilluminating, tender and size is 40cmX35cm imaging demonstrated small brain tissue mainly part of right occipital lobe with most of the sac being occupied by cerebrospinal fluid. Repair done and dysplastic brain tissue resected then healthy-looking brain tissue and Dural sinuses reduced to the skull, then patient stayed in the hospital and closely followed for hydrocephalus for seven days and discharged with no hydrocephalus and no neurologic deficit.
PubMed: 37720365
DOI: 10.2147/IMCRJ.S433167 -
Acta Otorhinolaryngologica Italica :... Apr 2023
Review
PubMed: 37698096
DOI: 10.14639/0392-100X-suppl.1-43-2023-02 -
Frontiers in Pediatrics 2023Spondylocostal dysostosis 4 (SCDO4) is characterized by short stature (mainly short trunk), dyspnea, brain meningocele, and spina bifida occulta, which is caused by...
BACKGROUND
Spondylocostal dysostosis 4 (SCDO4) is characterized by short stature (mainly short trunk), dyspnea, brain meningocele, and spina bifida occulta, which is caused by homozygous or compound heterozygous (HES family bHLH transcription factor 7) variants. The incidence of SCDO4 remains unknown due to the extremely low number of cases. This study reveals a novel homozygous splicing variant causing SCDO4 and reviews all the previously reported variants and corresponding symptoms, providing a comprehensive overview of the phenotypes and genotypes of variants.
CASE PRESENTATION
This case report focuses on a Chinese neonate who was first hospitalized for tachypnea, cleft palate, and short trunk. After a series of auxiliary examinations, the patient was also found to have deformities of vertebrae and rib, left hydronephrosis, and patent foramen ovale. He underwent surgery for congenital hydronephrosis at 5 months old and underwent cleft palate repair when he was 1 year old. After two and half years of follow-up, the boy developed normally. A novel homozygous variant (c.226+1G>A, NM_001165967.2) was identified in the proband by whole-exome sequencing and verified by Sanger sequencing. The variant was inherited from both parents and minigene assays demonstrated that this variant resulted in the retention of intron3 in the transcript. Including this case, a total of six variants and 13 patients with SCDO4 have been reported.
CONCLUSIONS
Our findings expand the genotype-phenotype knowledge of SCDO4 and provide new evidence for genetic counseling.
PubMed: 37691774
DOI: 10.3389/fped.2023.1201999