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.

Combined Endoscopic Endonasal and Transpalatal Repair of Congenital Anterior Cranial Fossa Agenesis.

BACKGROUND: Congenital basal meningoceles and encephaloceles are rare pathologies that may present in isolation or with characteristic-associated clinical features. Rarely, children with congenital midline defects may present with massive encephaloceles secondary to anterior cranial fossa agenesis. Traditionally, transcranial approaches with frontal craniotomies were used to reduce the herniated contents and repair the skull base defect. However, high rates of morbidity and mortality associated with craniotomies have favored the development and adoption of less-invasive techniques. OBJECTIVE: To present a novel technique for combined endoscopic endonasal and transpalatal repair of a giant basal meningocele through an extensive sphenoethmoidal skull base defect. METHODS: A representative case of congenital anterior cranial fossa agenesis with a giant meningocele was selected. Clinical and radiological presentations were reviewed, and the intraoperative surgical technique was documented and recorded. RESULTS: A surgical video highlighting each surgical step was included to complement the description of the technique. The surgical outcome from the selected case is also presented. CONCLUSION: This report describes a combined endoscopic endonasal and transpalatal approach to repair an extensive anterior skull base defect with herniation of intracranial content. This technique capitalizes on the advantages of each approach to address this complex pathology.

Transnasal endoscopic surgery of sphenoid meningocele associated with pituitary adenoma. A case report.

BACKGROUND: Transsphenoid meningoencephalocele is a congenital anomaly formed by herniation of an ependyma delimited sac through a bony defect into the sphenoid sinus. The sac contains cerebrospinal fluid and neurovascular structures. The prevalence of transsphenoid meningoencephalocele in the adult population is rare. It usually manifests as nasal liquorrhoea. METHODS AND RESULTS: This case report presents an adult male who underwent surgery due to suspected pituitary macroadenoma. The surgery was performed endoscopically via the transnasal approach with a surprising finding of true transsphenoid meningoencephalocele. Ectopic solid tissue was found in the sphenoid sinus in which pituitary adenoma was histologically confirmed. CONCLUSION: This paper presents a previously unpublished combination of true transsphenoid meningoencephalocele and pituitary adenoma in an adult individual.

Modified Transpterygoid Approach to Sphenoid Meningoencephaloceles: A Shorter Run for a Longer Slide.

OBJECTIVES: Cerebrospinal fluid (CSF) leaks and meningoencephaloceles originating in the lateral recess of the sphenoid sinus can be challenging. The traditional transpterygoid approach through the pterygopalatine fossa (PPF) is time consuming and places important structures at risk, which can lead to significant morbidity. We report a multi-institutional experience using a simplified, endoscopic modified transpterygoid approach (MTPA), which spares the PPF contents in the management of lateral sphenoid sinus meningoencephaloceles and CSF leaks. STUDY DESIGN: Multi-Institutional, Retrospective Case Series. METHODS: Patients with lateral sphenoid recess CSF leaks and meningoencephaloceles between 2014 and 2020 who underwent the MTPA at two academic medical centers were identified. Repair techniques and outcomes were evaluated. RESULTS: Thirty-three patients underwent the MTPA for management. Skull base reconstruction was performed using a free mucosal graft (24/33, 72.7%), nasoseptal flap (4/33, 12.1%), bone grafts (3/33, 9.1%), and abdominal fat grafts (2/33, 6.1%). Lumbar drains and perioperative intracranial pressure measurements were routinely employed. Postoperative complications were uncommon and included three patients (9.7%) with temporary V2 anesthesia, one patient (3.2%) with prolonged V2 anesthesia, and one patient (3.2%) with subjective dry eye, all of which resolved at 9 months postoperatively. There were no recurrent CSF leaks resulting in a 100% success rate. Average follow-up was 13 months. CONCLUSION: The MTPA reduces morbidity and greatly simplifies access to the lateral sphenoid sinus for the management of CSF leaks and meningoencephaloceles, without compromising exposure. This technique avoids the need for extensive PPF dissection and should be considered for the management of benign lesions involving the lateral sphenoid sinus. LEVEL OF EVIDENCE: 4 Laryngoscope, 131:2224-2230, 2021.

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.

Diastematobulbia type II without associated dermoid tumor: case report.

Split cord malformation (SCM) is a term used for all double spinal cords. It represents 3.8%-5% of spinal dysraphisms. Pang et al.'s embryological theory proposes the formation of an "accessory neurenteric canal" that communicates with the yolk sac and amnion. To the authors' knowledge, only three cases of diastematobulbia (basicranial SCM) associated with a spur or dermoid have been reported in the literature.The case patient is a newborn girl with an occipitocervical meningocele and dermal sinus associated with an anomaly of notochordal development in the transition between the medulla oblongata and the spinal cord (diastematobulbia) without a bony septum or dermoid cyst. The patient also has agenesis of the atlas and an absence of corticospinal tract decussation. This patient underwent reconstruction of the occipital meningocele and dermal sinus excision.To the authors' knowledge, this is the first described case of type II diastematobulbia (basicranial SCM), without a dermoid cyst. The authors analyzed the embryological errors present in the case patient and considered the option of further surgical treatment depending on the evolution of the patient's condition. At the time of this report, the patient had shown normal psychomotor development. However, this fact may only be due to the patient's young age. Considering that after initial untethering the patient remained clinically asymptomatic, conservative and close surveillance has been and continues to be the proposed treatment.

Estreñimiento crónico debido a síndrome de Currarino / Chronic constipation due to Currarino síndrome

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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.

Spontaneous symptomatic orbital meningoencephalocele in an adult patient. Case report and review of the literature.

Symptomatic spontaneous meningoencephalocele (MEC) is a very rare entity in adults and there have been no reported cases of spontaneous MEC through the orbital roof in an adult. We report a 41-year-old woman who presented with a left eyelid swelling for several weeks without any history of trauma. Brain magnetic resonance imaging (MRI) showed a MEC through the orbital roof causing a significant blepharocele in this young patient. Supraorbital craniotomy was performed to repair the bone defect. The symptoms resolved immediately after surgery. Even though blepharocele is a rare manifestation of spontaneous orbital MEC it should be considered in the differential diagnosis for appropriate surgical management.

Idiopathic intracranial hypertension presenting as bilateral spontaneous lateral intrasphenoidal and transethmoidal meningoceles: a case report and review of the literature.

BACKGROUND: Basal meningoceles are rare herniations of the meninges that tend to present unilaterally with cerebrospinal fluid rhinorrhea. Growing evidence suggests that intracranial hypertension contributes considerably to the formation of spontaneous basal meningoceles. CASE PRESENTATION: A 50-year-old man of Middle East ethnicity presented with a 16-week history of cerebrospinal fluid rhinorrhea, short-term memory loss, and slight decline in cognitive function. We present a case of bilateral spontaneous meningoceles with bone defects in the left lateral sphenoid sinus and right anterior cribriform plate, as well as with a remodeled sella. A neuronavigation-assisted expanded endoscopic endonasal surgery was performed to resect the meningoceles. Postoperative imaging demonstrated complete resolution of the bilateral meningoceles. CONCLUSIONS: This case reports the first bilateral basal spontaneous meningoceles in the literature. Furthermore, based on this case's imaging results and the literature reviewed, elevated intracranial pressure may be a determining factor behind the development of spontaneous meningoceles.

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.

Congenital basal meningoceles with different outcomes: a case series.

BACKGROUND: Basal meningoceles are rare congenital defects and often clinically occult until they result in life-threatening complications. Therefore, it is important to know the diagnostic clues to early diagnosis. CASE PRESENTATION: We describe three cases of congenital basal meningocele in a 3-year-old Japanese boy, a 1-month-old Japanese baby boy, and a 10-month-old Japanese baby girl. One of our patients died of sepsis due to traumatic rupture of the meningocele during nasal suction. His meningocele remained undiagnosed until it resulted in the fatal complication. The other patients underwent surgical repair without any complications. Their meningoceles were complicated by midfacial anomalies including cleft palate and hypertelorism, or a sign of nasal obstruction such as snoring. CONCLUSIONS: These clinical features may be a clue to the early diagnosis of congenital basal meningocele, which enables its safe preoperative management and provides an opportunity for surgical repair before the condition results in serious complications.

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.