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Neurology India 2023
Topics: Humans; Meningocele; Spinal Dysraphism; Hydrocephalus; Skull
PubMed: 38174450
DOI: 10.4103/0028-3886.391358 -
Asian Journal of Neurosurgery Sep 2023Rudimentary meningoceles of the spine with dural extension are very rare and warrant surgical excision to prevent infection and long-term neurological deficits in...
Rudimentary meningoceles of the spine with dural extension are very rare and warrant surgical excision to prevent infection and long-term neurological deficits in pediatric patients. We present the case of a 5-month-old infant with a tethered spinal cord secondary to a rudimentary meningocele. The patient presented shortly after birth with a midline cervical dimple that was evaluated for a suspected dermal sinus tract. Magnetic resonance imaging scan of the spine showed a sinus tract with intradural extension to C2-3 and external opening at the level of spinous process C5. En bloc surgical excision and spinal cord release were successfully performed. Histological analysis of the specimen confirmed the presence of two blunt sinus tracts and staining was consistent with a rudimentary meningocele. Intradural rudimentary meningoceles in infants can successfully be managed with surgical intervention. Surgery is indicated to prevent future motor complications from spinal cord tethering and neoplastic growth from the rudimentary meningocele.
PubMed: 38152540
DOI: 10.1055/s-0043-1774377 -
ENeurologicalSci Dec 2023Dandy-Walker malformation or syndrome is the most common posterior fossa malformation. It is commonly associated with other congenital anomalies such as cardiac defects;...
BACKGROUND
Dandy-Walker malformation or syndrome is the most common posterior fossa malformation. It is commonly associated with other congenital anomalies such as cardiac defects; however, association with a giant occipital meningocele is extremely rare, as only around 34 cases have been described.
CASE DESCRIPTION
We report a case of a 2-month-old female infant who presented with a midline, gigantic mass in the back of the head. It was first discovered on a prenatal ultrasound. The mass measured about 15 × 5 cm, extending to the midback, not changing in size with crying, not attached to the back, and with a positive transillumination test. The diagnosis was confirmed after doing a brain computed tomography, which revealed hypoplasia of the vermis with an enlarged posterior fossa as well as cystic dilation of both ventricles with herniation through a bone defect.
CONCLUSION
Our case highlights a rare association between giant occipital meningocele and Dandy-Walker syndrome that is rarely discussed or reported in the medical literature. By reporting this extremely rare case of Dandy-Walker syndrome associated with a giant occipital meningocele, we hope to contribute to the creation of a database for future research so that a management protocol can be established for use by clinicians and neurosurgeons for better management of the condition.
PubMed: 38053652
DOI: 10.1016/j.ensci.2023.100486 -
Indian Journal of Otolaryngology and... Dec 2023Fallopian canal meningocele is an extremely rare cause of cerebrospinal fluid rhinorrhoea. Also, due to complex anatomical relations and a lack of experience, its...
Fallopian canal meningocele is an extremely rare cause of cerebrospinal fluid rhinorrhoea. Also, due to complex anatomical relations and a lack of experience, its management remains a challenge. Here we report a case focusing on its clinical course, radiological features, and management.
PubMed: 38027530
DOI: 10.1007/s12070-023-03963-3 -
Journal of Medical Case Reports Nov 2023Caudal regression syndrome is a rare complex congenital anomaly with reduced penetrance and phenotypic variability characterized by osseous defects of the caudal spine,...
BACKGROUND
Caudal regression syndrome is a rare complex congenital anomaly with reduced penetrance and phenotypic variability characterized by osseous defects of the caudal spine, lower limb anomalies, and accompanying genitourinary, gastrointestinal/anorectal, and cardiac system soft tissue defects. We report a rare presentation of type 1 caudal regression syndrome in a pregnant woman with preexisting diabetes, in which early recognition of severe fetal anomalies on routine antenatal ultrasound facilitated confirmation with fetal magnetic resonance imaging to characterize extent of disease and prognosticate fetal outcome.
CASE PRESENTATION
This case of type 1 caudal regression syndrome in the setting of maternal pregestational diabetes mellitus resulted in stillbirth. The mother was a 29-year-old Caucasian primigravida female with past medical history of poorly controlled type 2 diabetes managed with metformin prior to pregnancy, prompting admission for glucose management and initiation of insulin at 13 weeks. Baseline hemoglobin A1c was high at 8.0%. Fetal ultrasound at 22 weeks was notable for severe sacral agenesis, bilateral renal pelvis dilatation, single umbilical artery, and pulmonary hypoplasia. Fetal magnetic resonance imaging at 29 weeks showed absent lower two-thirds of the spine with corresponding spinal cord abnormality compatible with type 1 caudal regression syndrome. The mother delivered a male stillborn at 39 and 3/7 weeks. Minimally invasive postmortem magnetic resonance imaging and computed tomography autopsy were performed to confirm clinical findings when family declined conventional autopsy. Etiology of sacral agenesis was attributed to poorly controlled maternal diabetes early in gestation.
CONCLUSION
Maternal preexisting diabetes is a known risk factor for development of congenital malformations. This rare case of type 1 caudal regression syndrome in a mother with preexisting diabetes with elevated hemoglobin A1c highlights the importance of preconception glycemic control in diabetic women and the utility of fetal magnetic resonance imaging for confirmation of ultrasound findings to permit accurate prognostication. Additionally, minimally invasive postmortem magnetic resonance imaging and computed tomography autopsy can facilitate diagnostic confirmation of clinical findings in perinatal death due to complex congenital anomalies while limiting the emotional burden on bereaved family members who decline conventional autopsy.
Topics: Female; Pregnancy; Male; Humans; Adult; Autopsy; Diabetes Mellitus, Type 2; Glycated Hemoglobin; Stillbirth; Tomography, X-Ray Computed; Magnetic Resonance Imaging
PubMed: 38001547
DOI: 10.1186/s13256-023-04220-5 -
Surgical Neurology International 2023Dandy-Walker syndrome (DWS) is a well-known developmental anomaly. An occipital meningocele (OMC) is recognized as a malformation that is relatively often associated...
BACKGROUND
Dandy-Walker syndrome (DWS) is a well-known developmental anomaly. An occipital meningocele (OMC) is recognized as a malformation that is relatively often associated with DWS, but the association of DWS with OMC has been reported in approximately 40 cases. We present herein a rare clinical course of DWS with OMC, in which the sac was small at birth and became progressively larger.
CASE DESCRIPTION
A 5-day-old baby boy was referred to our hospital due to OMC. He was born at 33 gestational weeks due to premature rupture of the membranes. He was diagnosed as having DWS associated with OMC. The OMC was covered with skin and its maximum diameter at birth was 3 cm. Magnetic resonance imaging showed an occipital bone defect and continuity of the fourth ventricle, posterior fossa cyst, and OMC sac. The aqueduct was patent, and no hydrocephalus was found. The OMC sac increased progressively with moderate hydrocephalus and reached 7 cm at the age of 54 days when his weight was 2508 g. A cystoperitoneal shunt and repair were performed after sinus venography by contrast computed tomography (CT). At the age of 1 year and 8 months, he had moderate developmental disabilities.
CONCLUSION
In most cases reported, the OMC was relatively small, and large and giant sizes were reported in only six cases. Almost all cases remained the same size as at birth and underwent surgical intervention as early as possible. It was possible to understand the relationship between the occipital bone defect and abnormal running of sinuses such as the superior sagittal sinus, torcular Herophili, and transverse sinus preoperatively from the CT venography (CTV) image. CTV may be an effective and important method for safely performing repair and shunt.
PubMed: 37941619
DOI: 10.25259/SNI_585_2023 -
Cureus Oct 2023We present a case of a two-year-old male with a history of congenital scoliosis and anterolateral thoracic meningocele. He was able to walk and run, but his parents...
We present a case of a two-year-old male with a history of congenital scoliosis and anterolateral thoracic meningocele. He was able to walk and run, but his parents reported left leg weakness and a frequent cough. The patient had normal neurological examination findings. Magnetic resonance imaging (MRI) of the spine without contrast showed left convex upper thoracic congenital scoliosis and rightward anterolateral meningocele inferiorly to T3, with the spinal cord tethered at this location. Neurosurgical cord detethering and repair of the meningocele were performed simultaneously with scoliosis repair by orthopedics. During the dissection of the meningocele, the bulging neural tissue was found to be a split cord ending in a blind stump. The split cord was determined to be nonfunctional via Prass probe (Medtronic, Minneapolis, MN) stimulation and was subsequently dissected. Detethering of the spinal cord was followed by repair of the dural outpouching and dural closure. The patient was stable post-surgery, but long-term results remain to be seen.
PubMed: 37927626
DOI: 10.7759/cureus.46496 -
Cureus Oct 2023Fetal ventriculomegaly, the most commonly identified abnormality of the fetal central nervous system (CNS), has been associated with elevated levels of the modified...
INTRODUCTION
Fetal ventriculomegaly, the most commonly identified abnormality of the fetal central nervous system (CNS), has been associated with elevated levels of the modified myocardial performance index (mMPI). However, the impact of other CNS pathologies on mMPI has not yet been evaluated. This study aimed to investigate whether there were changes in the myocardial performance index of fetuses with CNS pathologies without congenital heart diseases.
METHODS
A total of 126 singleton pregnant women were included in this study. Sixty-three fetuses had fetal CNS abnormalities of acrania, anencephaly, encephalocele, Dandy-Walker malformation, hydrocephalus, and meningocele. The control group consisted of 63 healthy and gestational age-matched fetuses. All ultrasonographic examinations were done in the second trimester of gestation. The data related to the characteristics of pregnant women were evaluated, and fetal left ventricular mMPI was obtained by ultrasound scan.
RESULTS
The study and the control group participants were not significantly different by means of pregnancy characteristics. The mean mMPI was higher in the fetal CNS malformation group compared to the control groups (0.39±0.02 vs. 0.45±0.04, P<0.001). The mean mMPI value was similar for fetuses with both closed and open calvarium defects of fetal CNS malformation.
CONCLUSION
Fetal CNS anomalies may be associated with prenatal cardiac dysfunction. Moreover, this relationship might be independent of the type of fetal CNS malformation, whether a closed or open calvarium defect.
PubMed: 37859680
DOI: 10.7759/cureus.47287 -
Annals of Dermatology May 2023PELVIS syndrome describes the constellation of perineal hemangioma, external genitalia malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus,...
A Case of Perineal Hemangioma, External Genitalia Malformations, Lipomyelomeningocele, Vesicorenal Abnormalities, Imperforate Anus, and Skin Tag (PELVIS) Syndrome with Extensive Perineal Infantile Hemangioma.
PELVIS syndrome describes the constellation of perineal hemangioma, external genitalia malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tag. A 2-month-old girl presented with infantile hemangioma on her perineum and genitalia with imperforate anus, rectovaginal fistula and perineal skin tag at birth. Under the impression of PELVIS syndrome, consequential spinal sonography was conducted and revealed an intrasacral meningocele without clinical neurologic deficit. The anorectal malformation was surgically corrected, she was taking oral propranolol for the cutaneous lesion, and she showed improvement and no complications.
PubMed: 37853874
DOI: 10.5021/ad.21.183 -
Global Pediatric Health 2023Meningocele is a rare congenital malformation of the central nervous system resulting from a herniation of the meninges containing cerebrospinal fluid through a bony...
Meningocele is a rare congenital malformation of the central nervous system resulting from a herniation of the meninges containing cerebrospinal fluid through a bony defect in the skull. It is part of neural tube closure anomalies. The overall incidence of meningocele is 0.8 to 3 per 10 000 live births; it varies based on geographical location and race, with a predominance of occipital localization. Among diagnostic methods, computed tomography (CT) and magnetic resonance imaging (MRI) remain crucial examinations. Prenatal diagnosis of this malformation primarily relies on ultrasound and screening through maternal serum alpha-fetoprotein (AFP) levels. They typically manifest very early at birth with a highly suggestive radioclinical presentation. Surgical treatment usually allows for a definitive cure. Superinfection and rupture of the meningocele are exceptional, resulting from delayed diagnosis and management. In several developed countries, prevention through genetic counseling and the intake of folic acid during the periconceptional period, along with accurate prenatal diagnosis and the legalization of therapeutic abortion, has led to a decrease in the prevalence of meningoceles. In less developed countries, where there is a delay in diagnosis in exceptional cases, superinfection and rupture may occur. We present the case of an 8-month-old infant with a complicated occipital meningocele with superinfection and rupture.
PubMed: 37846398
DOI: 10.1177/2333794X231204498