Association of spinal cord abnormalities with vertebral anomalies: an embryological perspective.

PURPOSE: To analyze the relationship between spinal cord and vertebral abnormalities from the point of view of embryology. METHODS: We analyzed the clinical and radiological data of 260 children with different types of spinal cord malformations in combination with vertebral abnormalities. RESULTS: Among 260 individuals, approximately 109 presented with open neural tube defects (ONTDs), 83 with split cord malformations (SCMs), and 83 with different types of spinal lipomas. Pathological spina bifida emerged as the most frequent vertebral anomaly, affecting 232 patients, with a higher prevalence in ONTD. Vertebral segmentation disorders, including unsegmented bars, butterfly vertebrae, and hemivertebrae, were present in 124 cases, with a higher prevalence in SCM. The third most common spinal anomaly group consisted of various forms of sacral agenesis (58 cases), notably associated with blunt conus medullaris, spinal lipomas, and sacral myelomeningocele. Segmental aplasia of the spinal cord had a typical association with segmental spinal absence (N = 17). CONCLUSION: The association between SCM and neuroenteric cyst/canal and vertebral segmentation disorders is strong. High ONTDs often coincide with pathological spina bifida posterior. Type 1 spinal lipomas and focal spinal nondisjunction also correlate with pathologic spina bifida. Segmental spinal absence or dysgenesis involves localized spinal and spinal cord aplasia, sometimes with secondary filar lipoma.

Presacral neuroendocrine tumors associated with the Currarino syndrome.

Currarino syndrome (CS) is an autosomal dominant syndrome caused by mutations in MNX1 and characterized by anorectal abnormalities, partial sacral agenesis, and presacral masses. The presacral masses are typically benign; however, malignant degeneration can occur, and presacral neuroendocrine tumors (NETs) have been reported in six cases. We report three individuals from two families affected by CS in which multiple individuals developed presacral NETs. The first family, 491, had six members with features of CS, including two siblings who presented with presacral, Grade 2 NETs, one of which had metastasized to bone and lymph nodes. A germline c.874C>T (p.Arg292Trp) mutation was found in a highly conserved region of MNX1 in three affected members who underwent sequencing. A second somatic variant/deletion in MNX1 was not detected in either patient's tumor. In the second family, 342, the proband presented with an incidentally discovered presacral NET. The proband's father had previously undergone resection of a presacral NET, and so genetic testing was performed, which did not reveal an MNX1 mutation or copy number variants. The lack of a second, somatic mutation in the tumors from family 491 argues against MNX1 acting as a tumor suppressor, and the absence of a germline MNX1 mutation in family 342 suggests that other genetic and anatomic factors contribute to the development of presacral NETs. These cases highlight the variable presentation of CS, and the potential for malignancy in these patients.

Nasal meningoencephalocele: A retrospective study of clinicopathological features and diagnosis of 16 patients.

OBJECTIVE: Nasal meningoencephalocele (encephalocele or cephalocele) is a rare condition with congenital, traumatic, or spontaneous origins. We investigated the clinicopathological characteristics of nasal encephaloceles to improve pathologists' and clinicians' understanding of this disease. METHODS: Sixteen patients with nasal encephaloceles were enrolled in this retrospective study investigating the condition's clinical and morphological features. RESULTS: Patients' average age was 37.8 (±20.8) years. The ratio of men to women was 2.2:1, patients' mean age was 47.4 (±11.8) years, and 10/16 patients had spontaneous encephaloceles. All patients with traumatic and spontaneous encephaloceles presented with cerebrospinal fluid leak. In 9/16 patients, the skull defect site occurred on the lateral wall of the sphenoid sinus. Both congenital patients experienced nasal obstruction. Histopathology, herniated tissues were brain and/or meningeal tissue, and the brain tissue was almost mature glial tissue. CONCLUSION: Nasal meningoencephalocele is a rare condition that can be challenging to diagnose. In patients with recurrent clear nasal discharge or in children with a unilateral nasal mass, a high index of suspicion for encephalocele is essential. In this study, spontaneous cases were most common in adults, and the lateral wall of the sphenoid sinus was the most common location.

Analysis of petrous apex meningocele associated with meningioma: is there any relation with chronic intracranial hypertension?

PURPOSE: Petrous apex meningocele (PAM) is an uncommon cystic lesion involving the petrous apex. The underlying cause of PAM may be related to chronic elevated intracranial pressure. The aim of the study was to explore the relationship between PAM and meningioma and between PAM and other intracranial hypertension findings. METHODS: Two hundred seventy-eight consecutive patients with meningiomas were retrospectively studied. Fifty age- and gender-matched controls were also enrolled in this study. The incidence of PAM, empty sella, tortuosity of the optic nerve, and hydrops of optic nerve sheath was evaluated. The maximum width, area, volume of each PAM, or Meckel's cave and volume of meningioma were measured in controls and patients, separately. RESULTS: One hundred fifty-nine (57.19%) patients were detected with coexistent PAMs. One hundred twenty-five patients had bilateral PAMs, 34 had unilateral lesions, and the remaining 119 did not have PAM. Two subjects (4/50) had unilateral PAMs in normal controls. The maximum width, area, volume of PAM, or Meckel's cave were significantly larger in the patients with bilateral PAM group than those in the unilateral PAM group, in the group without PAM, and those in control group (p = 0.000). The volume of meningioma was positively correlated with the PAM volume (r = 0.48). There was a positive correlation for the incidence between PAM and (1) empty sella (r = 0.901) and (2) tortuosity of the optic nerves and hydrops of the optic sheath (r = 0.825). CONCLUSION: Coexistence of PAMs with meningiomas is not rare in incidence, and it suggests a potential role for chronically elevated intracranial pressure and disturbance of CSF circulation in their pathophysiology.

A case of cranium bifidum with meningocele in Ayrshire calf.

BACKGROUND: Congenital cranial bone defects predispose to herniation of meninges, sometimes with brain tissue involvement, to form a cerebrospinal fluid (CSF)-filled cyst in the head. Such defects mainly results from focal failure of neural tube closure during fetal development and has been reported in various species of domestic mammals. CASE PRESENTATION: A one week old Ayrshire calf with a fluctuant swelling on parieto-occipital region of the head was referred to the faculty. The calf was always lying on lateral recumbency and exhibited resistance to deep palpation around the swelling and neck flexion. Embedded to the midline of the dorso-caudal surface of the cyst's wall was a hard longitudinally oriented structure. The case was diagnosed as meningocele by means of radiographic examination. As the likelihood to full recovery was greatly reduced due to the negative impact already meted on brain tissue by intracranial pressure, the calf was euthanized on grounds of animal welfare and the diagnosis confirmed by anatomopathological findings which also revealed a circular bone defect in parieto-occipital region of the skull vault and a flattened bony structure embedded to the cyst's wall. CONCLUSION: Anatomopathological findings confirmed the diagnosis as cranial bifidum with meningocele at the parieto-occipital region of the skull vault. The presence of a bony structure embedded to the wall of meningeal sac was rather unusual and could not be sufficiently explained. It was however thought to, most likely, represent a part of interparietal bone that failed to get incorporated into squamous part of occipital bone as a result of the defect. The report also highlights challenges that work against timely delivery of urgent veterinary interventions in rural set ups of Africa and rest of the developing world, often leaving veterinarians with animal welfare consideration as main determinant of intervention measures.

Sacral agenesis: a pilot whole exome sequencing and copy number study.

BACKGROUND: Caudal regression syndrome (CRS) or sacral agenesis is a rare congenital disorder characterized by a constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower limbs. CRS is a complex condition, attributed to an abnormal development of the caudal mesoderm, likely caused by the effect of interacting genetic and environmental factors. A well-known risk factor is maternal type 1 diabetes. METHOD: Whole exome sequencing and copy number variation (CNV) analyses were conducted on 4 Caucasian trios to identify de novo and inherited rare mutations. RESULTS: In this pilot study, exome sequencing and copy number variation (CNV) analyses implicate a number of candidate genes, including SPTBN5, MORN1, ZNF330, CLTCL1 and PDZD2. De novo mutations were found in SPTBN5, MORN1 and ZNF330 and inherited predicted damaging mutations in PDZD2 (homozygous) and CLTCL1 (compound heterozygous). Importantly, predicted damaging mutations in PTEN (heterozygous), in its direct regulator GLTSCR2 (compound heterozygous) and in VANGL1 (heterozygous) were identified. These genes had previously been linked with the CRS phenotype. Two CNV deletions, one de novo (chr3q13.13) and one homozygous (chr8p23.2), were detected in one of our CRS patients. These deletions overlapped with CNVs previously reported in patients with similar phenotype. CONCLUSION: Despite the genetic diversity and the complexity of the phenotype, this pilot study identified genetic features common across CRS patients.

Type I Cutaneous Meningioma (Rudimentary Meningocele) With Intradural Attachment to the Phylum Terminale.

Cutaneous meningiomas (CM) are a small subset of meningiomas, further classified into three subtypes. The authors present a 15-year-old male with a symptomatic congenital type I CM and describe the histopathological and immunohistochemical findings. To the authors' knowledge, this is the first report of an extraspinal lumbar type I CM with intradural attachment to the phylum terminale.

Lateral temporal encephaloceles: case-based review.

PURPOSE: Lateral temporal encephalocele is an extremely rare clinical condition, with only 18 cases presented in the literature to date. No review articles have examined lateral temporal encephalocele in depth. We therefore reviewed past cases of lateral encephalocele to clarify the clinical characteristics of this extremely rare deformity. We also present a case of lateral encephalocele with arachnoid cyst which has never been reported in past reports. METHODS: We identified 8 reports describing 18 cases of lateral temporal encephalocele. We therefore reviewed 19 cases of lateral temporal encephalocele, including our own experience, and discussed the clinical characteristics of this pathology. RESULTS: All the cases with lateral temporal encephalocele were detected at birth except for an occult case. The majority occurred at the pterion, and occurrence at the asterion appears much rarer. Due to the preference for the pterion, the ipsilateral orbital wall was also distorted in some cases. Lateral temporal encephalocele seems to have fewer associated malformations: only 3 cases of lateral temporal encephalocele had associated malformations, including our case which was associated with intracranial arachnoid cyst. The only case of lateral temporal encephalocele to have shown hydrocephalus was our own case. Patients with this deformity have relatively good prognoses: only 3 of the 19 cases showed delayed psychomotor development during follow-up. CONCLUSIONS: Provision of adequate treatment is likely to achieve a good prognosis in patients with lateral temporal encephalocele, so we should keep in mind this deformity when encountering pediatric patients with mass lesions on the temporal cranium.

Two cases of meningocele and meningoencephalocele in Jeju native pigs.

BACKGROUND: Meningocele and meningoencephalocele of the skull are congenital deformities. Various species, such as pigs, dogs, and cats, are susceptible to congenital meningocele and meningoencephalocele and the incidence is higher in large white and landrace pigs. CASE PRESENTATION: In this study, swelling was observed in the fontanel areas of the median planes of the skull cap in two female piglets of the same litter. Gross clinical examination, neurological examination, computed tomography (CT), and magnetic resonance imaging (MRI) were conducted on the symptomatic piglets. The gross clinical and neurological examinations revealed no specific findings, except for the swellings. According to the CT results, the length of the defect on the sagittal section of the skull was 4.7 mm in case 1 and 20.62 mm in case 2. Connected flow between the skull swellings and the cerebrospinal fluid (CSF) of the lateral ventricles was observed, and partial herniation was identified in case 2. On MRI, CSF with high T2 signals was identified in the arachnoid spaces between the cerebrum and the cerebellum in the two cases, which is consistent with intracranial hypertension. The size of the swelling formed in the parietal bones was 1.6 × 1.1 × 1.8 cm(3) (case 1) and 1.2 × 1.38 × 1.7 cm(3) (case 2). The increase in intracranial pressure was more obvious in case 2 than in case 1, and was accompanied by posterior displacements of the mesencephalon and cerebellum. CONCLUSIONS: Case 1 was diagnosed as meningocele resulting from meningeal herniation and case 2 was diagnosed as meningoencephalocele caused by brain tissue herniation.

Brain mushroom: A case of osteolytic intraosseous meningioma with transcalvaria herniation.

A 61-year-old male presented with primary intraosseous osteolytic meningioma and transcalvaria herniation. This is an extremely rare condition with only 16 case reports of osteolytic intraosseous meningioma. This case is unique because it was accompanied by a transcalvaria herniation.

Meningoceles in idiopathic intracranial hypertension.

OBJECTIVE: MRI abnormalities have been described in patients with increased intracranial pressure (ICP), including in those with idiopathic intracranial hypertension (IIH). Spontaneous CSF-filled outpouchings of the dura (meningoceles) and secondary CSF leaks can occur from elevated ICP in patients with IIH; however, few studies have evaluated these findings. Our objective was to evaluate the frequency of spontaneous intracranial meningoceles among IIH patients and determine their association with visual outcome. MATERIALS AND METHODS: We performed a retrospective case-control study of consecutive IIH patients between 2000 and 2011 who underwent MRI that included T2-weighted imaging. Demographics, presenting symptoms, CSF opening pressure, and visual outcome were collected for the first and last evaluations. Control subjects included patients without headache or visual complaints who had normal brain MRI results. Stratified analysis was used to control for potential confounding by age, sex, race, and body mass index. RESULTS: We included 79 IIH patients and 76 control subjects. Meningoceles were found in 11% of IIH patients versus 0% of control subjects (p<0.003). Prominent Meckel caves without frank meningoceles were found in 9% of IIH patients versus 0% of control subjects (p<0.003). Among IIH patients, the presence of meningocele or prominent Meckel caves was not associated with demographics, symptoms, degree of papilledema, CSF opening pressure, visual acuity, or visual field defect severity. CONCLUSION: Meningoceles are significantly more common in IIH patients than in control subjects and can be considered an additional imaging sign for IIH. Meningoceles are not, however, associated with decreased CSF opening pressure or better visual outcome in IIH.

Sequestrated meningocoele within a naevus sebaceous of Jadassohn on the scalp of a child.

Sequestrated meningocoele is an uncommon developmental anomaly in which meningothelial elements are found in the skin or subcutaneous tissue without underlying bony defect. By contrast, naevus sebaceous of Jadassohn (NSJ) is a circumscribed hamartomatous lesion occurring in about 0.3% of newborns. We report a child with a histologically confirmed sequestrated meningocoele within an NSJ on his scalp vertex. Such an occurrence has not been reported previously.

Direct pressure on a pseudomeningocele resulting in intraoperative cerebral ischemia.

PURPOSE: When positioning patients with meningocele and meningomyelocele, it is standard practice to avoid direct pressure on the lesions. That caution is intended to prevent injury to neural elements within the lesion and violation of the cerebrospinal fluid space. We herein report an additional hazard of direct intraoperative pressure on such lesions. An adult patient with a lumbosacral pseudomeningocele sustained a cerebral ischemic injury as a consequence of direct pressure on the lesion during general anesthesia. CLINICAL FEATURES: A 32-yr-old male with spina bifida and a pseudomeningocele related to recent lumbar surgery underwent a urologic procedure in the lithotomy position. Because the lesion was recognized to lie to the left of the midline, cushioning was placed under the patient's left hip and buttock. The patient was slow to awaken and has sustained significant long-term cognitive deficits. Imaging is consistent with a diffuse cerebral ischemic insult. CONCLUSION: In retrospect, the size and leftward extent of the pseudomeningocele were not appreciated preoperatively, and in spite of the care taken, intraoperative pressure was placed on the lesion. This report cautions that intraoperative pressure related to positioning patients with extra-axial lesions containing cerebrospinal fluid (CSF), e.g., meningoceles and pseudomeningoceles, can result in increases in CSF pressure and thereby a reduction in cerebral perfusion pressure sufficient to result in cerebral ischemia.

Giant intrasacral meningocele: a case report.

A peculiar case of intrasacral meningocele and spinal cord tethering is reported. Contents of the intrasacral meningocele and importance of CSF flow analyses with MRI are discussed. Demonstration of CSF flow from the thecal sac to meningocele in the CSF flow MR imaging may be helpful for determining the possibility of meningocele growth. In this report, we have presented the determination of CSF flow as a new surgical indication in this type of cases.

Calcified pseudomeningocele of the lumbar spine: a review.

PURPOSE: In this article, we review the English literature of calcified pseudomeningoceles in the lumbar region. METHODS: A systematic review using the Medline Database using the varied nomenclature for pseudomeningoceles, as well as reviewing the reference lists of relevant article found. RESULTS: We discuss the different pathological theories on formation of a pseudomeningocele, the formation of a calcified wall and the optimal management for this entity. To date, 17 cases have been described, of which 13 are reviewed here. Calcification of pseudomeningocele is a rare entity and in the lumbar spine this occurs postsurgically. The only predisposing factor is prior surgery to the lumbar spine. Computer tomography, magnetic resonance imaging (MRI) and MRI myelography in combination are the preoperative investigations of choice. The radiological work-up can be preoperatively diagnostic and is important in the surgical planning. CONCLUSIONS: The treatment is surgicel removal and the decision to treat is based on patient symptoms and correlating these with imaging. There is an average reported follow-up of 1.7 years postoperatively for these patients and the reported outcome after surgery is good.

A tail of sacral agenesis: delayed presentation of meningocele in sacral agenesis.

INTRODUCTION: Sacral agenesis is a congenital condition associated with multiple orthopedic, spinal, abdominal and thoracic organ deformities. Meningocele is commonly found among patients with sacral agenesis. DESCRIPTION: We present the first case in the literature describing a delayed presentation of terminal (posterior) meningocele in an adult patient born with sacral agenesis. CONCLUSION: Surgical repair was performed and is the best treatment option for significantly large lesions, with postoperative CSF leak being the main complication.

Transsphenoidal meningocele: an anatomical study using human fetuses including report of a case.

An asymptomatic transsphenoidal meningoencephalocele was discovered incidentally by fiber laryngoscopic examination in a 62-year-old man suffering from hoarseness due to dysplasia of the vocal cord epithelium. To provide a better understanding of the pathogenesis of this anomaly, we performed histologic observations of paraffin-embedded specimens of 42 human fetal heads at 12-16 weeks of gestation. At these stages, ossification had started in the clivus but the sphenoid sinus was not developed. In contrast to the very low incidence of the intra- or trans-sphenoidal remnant of Rathke's pouch after birth, we found (1) the typical mid-line cleft of the sphenoid body in two specimens (2/42 or 4.8 %) and (2) a duct-like, sellar inferior protrusion ending in the sphenoid body in 12 specimens (12/42 or 28.6 %). The cyst-like structure in the protrusion (two specimens) seemed to be composed of obstructed veins. The intra- and trans-sphenoidal anomalies were observed more frequently in specimens without ossification of the sphenoid body than in those with ossification. However, irrespective of ossification, a cyst-like remnant of the most upper part of Rathke's pouch was always seen between the anterior and posterior lobes of the developing pituitary gland. In addition, the bursa pharyngea was seen in four specimens and we confirmed that the notochord was attached to the bursa in each case. The consistent remnant of the intrasellar Rathke's pouch appeared to explain the high incidence of Rathke's cleft cyst in adults. The relatively high incidence of intrasphenoidal anomalies in fetuses (14/42) suggested that the intra- or trans-sphenoidal remnant of Rathke's pouch was physiologically closed by ossification of the sphenoid body.