[Efficacy of CT-guided partial radiofrequency ablation of bilateral responsible cranial nerves in the treatment of Meige syndrome].

Objective: To evaluate the efficacy of CT-guided partial radiofrequency ablation of bilateral responsible cranial nerves in the treatment of Meige syndrome. Methods: The Clinical data of 56 patients with Meige syndrome in the Department of Pain Medicine, Affiliated Hospital of Jiaxing University from June 2019 to January 2023 were retrospectively analyzed [19 males and 37 females, aged 42-76 (58.6±8.3) years], including 51 cases of blepharospasm, 3 cases of oromandibular dystonia and 2 cases of blepharospasm concomitant with oromandibular dystonia. CT-guided partial radiofrequency ablation of bilateral responsible cranial nerves was performed on different types of Meige syndrome. And the efficacy and complications of the technique were observed. Results: Fifty-one patients with blepharospasm Meige syndrome underwent CT-guided radiofrequency of facial nerve through bilateral stylomastoid foramen punctures, the symptoms of blepharospasm disappeared completely, leaving bilateral mild and moderate facial paralysis symptoms. Three patients with oral-mandibular dystonia underwent CT-guided radiofrequency therapy by bilateral foramen ovale puncture of mandibular branches of trigeminal nerve, masticatory muscle spasm disappeared, the patients had no difficulty opening the mouth, and the skin numbness in bilateral mandibular nerve innervation area was left. Two cases of Meige syndrome with blepharospasm concomitant with oromandibular dystonia were treated by radiofrequency of facial nerve and mandibular branch of trigeminal nerve, and all symptoms disappeared. The patients were followed up for 1-44 months after the operation, and the symptoms of mild and moderate facial paralysis disappeared at (3.2±0.8) months after the operation, but the numbness did not disappear. Three patients with blepharospasm recurred at the 14, 18 and 22 months after the operation, respectively, while the rest cases did not recur. Conclusions: According to different types of Meige syndrome, CT-guided partial radiofrequency ablation of responsible cranial nerves can effectively treat the corresponding type of Meige syndrome. The complications are only mild and moderate facial paralysis which can be recovered, and/or skin numbness in the mandibular region.

SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement.

Biallelic mutations in the SBF1 gene have been identified in one family with demyelinating Charcot-Marie-Tooth disease (CMT4B3) and two families with axonal neuropathy and additional neurological and skeletal features. Here we describe novel sequence variants in SBF1 (c.1168C>G and c.2209_2210del) as the potential causative mutations in two siblings with severe axonal neuropathy, hearing loss, facial weakness and bulbar features. Pathogenicity of these variants is supported by co-segregation and in silico analyses and evolutionary conservation. Our findings suggest that SBF1 mutations may cause a syndromic form of autosomal recessive axonal neuropathy (AR-CMT2) in addition to CMT4B3.

The Rhomboid Lip: Anatomy, Pathology, and Clinical Consideration in Neurosurgery.

OBJECTIVE: To describe microsurgical anatomy of the rhomboid lip (RL) and to consider its role by presenting histology and clinical cases. METHODS: We examined 10 (20 sides) formalin-fixed adult human cadaveric heads injected with colored silicone. A total of 20 RLs were examined posteriorly. We examined the expansion of the RL in the cerebellopontine cistern. We assessed the relationship between the RL and choroid plexus and the RL and cranial nerve IX and classified the RL. We also observed these relationships in clinical cases during surgeries and examined histologic assessments of the RL. RESULTS: The RL was divided into 3 types, non-extension type, lateral extension type, and jugular foramen type, according to the relationship between the RL and choroid plexus. There were many variations of the extension of the RL. The jugular foramen type was rare. CONCLUSIONS: Histologically, the RL is the remnant of the fourth ventricle covered with ependymal cells. Knowledge of the detailed anatomy and proper dissection of the RL may help surgeons to obtain good visualization of structures around the foramen of Luschka.

Severe cranial nerve involvement in a patient with monoclonal anti-MAG/SGPG IgM antibody and localized hard palate amyloidosis.

We report a patient with severe cranial polyneuropathy as well as sensory limb neuropathy. Biclonal serum IgM-kappa/IgM-lambda gammopathy was found and serum anti-myelin-associated glycoprotein (MAG)/sulfoglucuronyl paragloboside (SGPG) IgM antibody was also detected. Immunofluorescence analysis of a sural nerve biopsy specimen revealed binding of IgM and lambda-light chain on myelin sheaths. No amyloid deposition was detected in biopsied tissues except for the hard palate, suggesting that the amyloidosis was of the localized type and had no relation to the pathogenesis of cranial neuropathy. Our observations indicate that the anti-MAG/SGPG IgM antibody may be responsible for this patient's cranial polyneuropathy, which is a rare manifestation in anti-MAG/SGPG-associated neuropathy.

Chronic polyradiculoneuropathy of infancy. A report of three cases with familial incidence.

Two siblings and a third child exhibited a syndrome of progressive muscular weakness and wasting, closely resembling Werdnig-Hoffmann's disease. Autopsy of one of the siblings and the third child showed nearly total absence of myelin sheaths in the cranial and spinal nerve roots, relative preservation of axons, and normal neurons in the motor cranial nerve nuclei and anterior spinal gray matter. The mother of the siblings had bilateral pes cavus, and the father of the third child had a sensory-motor polyneuropathy dating to childhood, associated with pes cavus and scoliosis. The disorder in these children and in a few similar cases in the literature shares some features of Charcot-Marie-Tooth disease and the hypertrophic neuropathy of Dejerine-Sottas, but it is difficult to classify as either of these familial neuropathies as presently defined. Elevation of cerebrospinal fluid protein is a useful finding in distinguishing such children from patients with Werdnig-Hoffmann's disease.

Surgical anatomy of the infratemporal fossa: the styloid diaphragm revisited.

INTRODUCTION: The infratemporal fossa (ITF) gives passage to most major cerebral vessels and cranial nerves. Dissection of the ITF is essential in many of the lateral cranial base approaches and in exposure of the high cervical internal carotid artery (ICA). We reviewed the surgical anatomy of this region. METHODS: Direct foraminal measurements were made in seven dry skulls (14 sides), and the relationship of these foramina to each other and various landmarks were determined. Ten ITF dissections were performed using a preauricular subtemporal-infratemporal approach. Preliminary dissections of the extracranial great vessels and structures larger than 1 cm were performed using standard macroscopic surgical techniques. Dissection of all structures less than 1 cm was conducted using microsurgical techniques and instruments, including the operating microscope. The anatomic relationships of the muscles, nerves, arteries, and veins were carefully recorded, with special emphasis regarding the relationship of these structures to the styloid diaphragm. The dissection was purely extradural. RESULTS: The styloid diaphragm was identified in all specimens. It divides the ITF into the prestyloid region and the retrostyloid region. The prestyloid region contains the parotid gland and associated structures, including the facial nerve and external carotid artery. The retrostyloid region contains major vascular structures (ICA, internal jugular vein) and the initial exocranial portion of the lower Cranial Nerves IX through XII. Landmarks were identified for the different cranial nerves. The bifurcation of the main trunk of the facial nerve was an average of 21 mm medial to the cartilaginous pointer and an average of 31 mm medial to the tragus of the ear. The glossopharyngeal nerve was found posterior and lateral to stylopharyngeus muscle in nine cases and medial in only one. The vagus nerve was consistently found in the angle formed posteriorly by the ICA and the internal jugular vein. The spinal accessory nerve crossed anterior to the internal jugular vein in five cases and posterior in another five cases. It could be located as it entered the medial surface of the sternocleidomastoid muscle 28 mm (mean) below the mastoid tip. The hypoglossal nerve was most consistently identified as it crossed under the sternocleidomastoid branch of the occipital artery 25 mm posterior to the angle of the mandible and 52 mm anterior and inferior to the mastoid tip. CONCLUSION: The styloid diaphragm divides the ITF into prestyloid and retrostyloid regions and covers the high cervical ICA. Using landmarks for the exocranial portion of the lower cranial nerves is useful it identifying them and avoiding injury during approaches to the high cervical ICA, the upper cervical spine, and the ITF.

[Mandibular neuropathy due to infiltration of the Gasser ganglion]. / Neuropatía mentoniana por infiltración del ganglio de Gasser.

INTRODUCTION: The numb chin syndrome is characterized by oral and facial numbness restricted to the distribution of the mental nerve. This uncommon neuropathy has been described in association with a number conditions including malignant disease even in the patients no known to have cancer. Numb chin syndrome may be caused by metastatic involvement of the mental nerve, by involvement of the proximal mandibular root at the base of the skull or by intracranial leptomeningeal spread. CLINICAL CASE/DISCUSSION: We described a case of neuropathy of the chin as the initial symptom of the breast cancer. We suggested that the lesion was in the trigeminal ganglion based on enlargement and gadolinium enhancement of the trigeminal ganglia on MRI. A mental neuropathy should initiate a search for cancer that includes MRI of the head.

Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge (22q11) deletion syndrome.

We assessed feeding-related developmental anomalies in the LgDel mouse model of chromosome 22q11 deletion syndrome (22q11DS), a common developmental disorder that frequently includes perinatal dysphagia--debilitating feeding, swallowing and nutrition difficulties from birth onward--within its phenotypic spectrum. LgDel pups gain significantly less weight during the first postnatal weeks, and have several signs of respiratory infections due to food aspiration. Most 22q11 genes are expressed in anlagen of craniofacial and brainstem regions critical for feeding and swallowing, and diminished expression in LgDel embryos apparently compromises development of these regions. Palate and jaw anomalies indicate divergent oro-facial morphogenesis. Altered expression and patterning of hindbrain transcriptional regulators, especially those related to retinoic acid (RA) signaling, prefigures these disruptions. Subsequently, gene expression, axon growth and sensory ganglion formation in the trigeminal (V), glossopharyngeal (IX) or vagus (X) cranial nerves (CNs) that innervate targets essential for feeding, swallowing and digestion are disrupted. Posterior CN IX and X ganglia anomalies primarily reflect diminished dosage of the 22q11DS candidate gene Tbx1. Genetic modification of RA signaling in LgDel embryos rescues the anterior CN V phenotype and returns expression levels or pattern of RA-sensitive genes to those in wild-type embryos. Thus, diminished 22q11 gene dosage, including but not limited to Tbx1, disrupts oro-facial and CN development by modifying RA-modulated anterior-posterior hindbrain differentiation. These disruptions likely contribute to dysphagia in infants and young children with 22q11DS.

A clear map of the lower cranial nerves at the superior carotid triangle.

BACKGROUND: The lower cranial nerves must be identified to avoid iatrogenic injury during skull base and high cervical approaches. Prompt recognition of these structures using basic landmarks could reduce surgical time and morbidity. METHODS: The anterior triangle of the neck was dissected in 30 cadaveric head sides. The most superficial segments of the glossopharyngeal, vagus and its superior laryngeal nerves, accessory, and hypoglossal nerves were exposed and designated into smaller anatomic triangles. The midpoint of each nerve segment inside the triangles was correlated to the angle of the mandible (AM), mastoid tip (MT), and bifurcation of the common carotid artery. RESULTS: A triangle bounded by the styloglossus muscle, external carotid artery, and facial artery housed the glossopharyngeal nerve. This nerve segment was 0.06 ± 0.71 cm posterior to the AM and 2.50 ± 0.59 cm inferior to the MT. The vagus nerve ran inside the carotid sheath posterior to internal carotid artery and common carotid artery bifurcation in 48.3% of specimens. A triangle formed by the posterior belly of digastric muscle, sternocleidomastoid muscle, and internal jugular vein housed the accessory nerve, 1.90 ± 0.60 cm posterior to the AM and 2.30 ± 0.57 cm inferior to the MT. A triangle outlined by the posterior belly of digastric muscle, internal jugular vein, and common facial vein housed the hypoglossal nerve, which was 0.82 ± 0.84 cm posterior to the AM and 3.64 ± 0.70 cm inferior to the MT. CONCLUSIONS: Comprehensible landmarks can be defined to help expose the lower cranial nerves to avoid injury to this complex region.

Robotic surgery of the infratemporal fossa utilizing novel suprahyoid port.

OBJECTIVES/HYPOTHESIS: To develop a minimally invasive technique for robotic access to the infratemporal fossa and describe use of a novel suprahyoid port placement. STUDY DESIGN: A cadaveric study to assess feasibility of robotic dissection of the infratemporal fossa using a novel, midline suprahyoid port placement. METHODS: Six complete and two partial dissections of the infratemporal fossa were carried out on one fixed and three fresh cadaveric heads using the da Vinci surgical robot (Intuitive Surgical, Inc., Sunnyvale, CA). The suprahyoid port site was utilized to place one robotic arm into the vallecula. The second arm and 30 degrees camera were placed transorally, and dissections were performed through the lateral pharyngeal wall and into the infratemporal fossa with identification and preservation of the lingual nerve, inferior alveolar nerve, internal and external carotid arteries, jugular vein, and cranial nerves IX-XII. Surgical clips were placed at the extent of dissection, and computed tomography (CT) imaging was obtained after dissections. RESULTS: The transoral and midline suprahyoid port sites provide excellent access to the infratemporal fossa. The midline port site has excellent utility for accessing wide areas of the skull base bilaterally. CT imaging shows surgical clips placed successfully at the skull base foramina of major neurovascular structures. CONCLUSIONS: Robotic surgery offers several advantages over traditional endoscopic surgery with the addition of tremor-free, two-handed technique and microscopic three-dimensional visualization. A midline suprahyoid port placement provides minimally invasive access for excellent exposure of the infratemporal fossa bilaterally.

Diagnostic nerve ultrasound in Charcot-Marie-Tooth disease type 1B.

Ultrasound is emerging as a useful tool for evaluation of neuromuscular conditions, because it can provide high-resolution anatomic information to complement electrodiagnostic data. There have been few studies in which ultrasound was used to assess the peripheral nerves of individuals with Charcot-Marie-Tooth (CMT) disease and none involving CMT type 1B. In this study we compared nerve cross-sectional area in individuals from a single large family with CMT 1B with normal, healthy controls. We also assessed for cranial nerve enlargement in those with CMT 1B with cranial neuropathies compared to those with CMT 1B without cranial neuropathies. Individuals with CMT 1B have significantly larger median and vagus nerves than healthy controls, but no difference was seen in cranial nerve size between those with versus those without cranial neuropathies. This is the first study to characterize the ultrasonographic findings in the peripheral nerves of individuals with CMT 1B.

Facial pain.

Facial pain is a debilitating disorder if left untreated. Too often, patients are labeled as having psychopathology when face pain etiology is unclear. These patients are categorized as "atypical," "idiopathic," or "psychogenic." Cases of facial pain involving neuropathic, neurovascular, musculoskeletal, as well as intracranial and extracranial systems will be reviewed. Peripheral and central mechanisms associated with these disorders are used to provide an update of these frequently seen clinical issues.

Surgical strategy for tumors located in or extending from the intracranial space to the infratemporal fossa-Advantages of the transcranial approach (zygomatic infratemporal fossa approach) and the indications for a combined transcranial and transcervical approach-.

The surgical strategy for tumors located in or extending from the intracranial space to the infratemporal fossa was analyzed in 12 cases with various pathologies. A case of mandibular nerve schwannoma, which extended 1 cm below the external orifice of the foramen ovale, was completely removed via the epidural subtemporal approach without zygomatic osteotomy with partial removal of the middle cranial base. The inferior margin of infratemporal tumor could be accessed via the transcranial route with zygomatic or orbitozygomatic osteotomy without complications including facial nerve injury in nine cases, and the lowest level of the infratemporal tumors was approximately 4.5 cm below the outer surface of the middle cranial base. In five of these 9 cases (2 schwannomas, 1 myxoma, 1 chondrosarcoma, and 1 malignant peripheral nerve sheath tumor), the tumors were localized in the infratemporal fossa, and in the other 4 cases (2 meningiomas, 1 glioblastoma, and 1 ameloblastoma), the tumors extended to both the intracranial space and the infratemporal fossa. In two cases (recurrent jugular schwannoma and mandibular osteosarcoma), a combined transcranial and transcervical approach (mandibular swing approach) was essential, because the resection line of the lower margin was too far from the middle cranial base. These results indicate that the transcranial approach, with or without zygomatic or orbitozygomatic osteotomy (zygomatic infratemporal fossa approach), is safe and effective for removal of some infratemporal tumors, and that a combined transcranial and transcervical approach is useful for removing infratemporal tumors with extensive downward extension.

[Neurovascular infrahyoid myofascial flap. Anatomic-topographic study of innervation and vascular supply]. / Der neurovaskuläre infrahyoidale Muskelfaszienlappen. Anatomisch-topographische Untersuchung der Innervation und Gefässversorgung.

Fifteen cadavers were examined bilaterally for the topography of the superior thyroid artery and vein an lower cervical ansa as an axial bundle of vessels and nerves for the infrahyoid myofascial flap. Using injections of methylene blue, the vascular territories of the superior thyroid artery were demonstrated. The superior thyroid artery and vein could be found in all cases. This artery was derived in 47% of cases from the external carotid artery, in 30% from the bifurcation and in 23% from the common carotid artery. In 43% of cases the vein flowed to the facial vein and in 37% to the internal jugular vein. In the remaining 20%, several segmental veins were found that flowed separately to the jugular vein. In case of a far caudally situated vascular bundle the radius of rotation was limited in a cranial direction. The voluntary innervation of the muscles of the infrahyoid myofascial flap was derived from the lower cervical ansa. The upper radix of the ansa was found 1 cm in latero-cranial direction to the greater horn of the hyoid bone, where it separated from the hypoglossal nerve. Present findings show that the superior thyroid artery supplies the infrahyoid musculature in its whole extension from the hyoid bone to the sternum. It is therefore possible to develop a myofascial flap of 3.5 cm x 11.5 cm in size, which can be predicted at an upper vascular and neural bundle. Depending on the radius of rotation, defects of the floor of mouth, tongue and oro- and hypopharynx can be covered sufficiently with this neurovascular myofascial flap.

Local neurotoxicity of cisplatin after intra-arterial chemotherapy.

Acute cranial neuropathy followed intra-arterial chemotherapy with Cisplatin for a squamous cell cancer of the mouth. The favourable course, histological studies and local trophic impairment suggested local neurotoxicity due to Cisplatin accumulation in cranial nerves. The patient was the first to develop such a toxic effect in a series of 35 consecutive patients treated with the same therapy.

Brainstem dysgenesis: report of five patients with congenital hypotonia, multiple cranial nerve involvement, and ocular motor apraxia.

This paper reports three females and two males with a distinctive congenital syndrome characterized by severe congenital hypotonia, facial diplegia, jaw ankylosis, velo-pharyngeal incoordination, pyramidal tract signs, and ocular motor apraxia. Patients were followed up at ages ranging from 20 months to 16 years. All cases of this syndrome are sporadic, without dysmorphological features, chromosomal, or MRI brain abnormalities. Electrophysiological studies indicate the brainstem as the site of the neurological dysfunction. Post-mortem CNS study of one of the patients demonstrated neuronal depletion of the IV, VII, VIII, and IX cranial nerve nuclei and intact morphology of the cerebral hemispheres. A vascular accident, early in foetal life, is the most likely cause of the clinical picture. The extent of brainstem involvement and its related clinical findings distinguishes these patients from those with Moebius, Pierre Robin, or Cogan syndromes. Outcome is better than what could be anticipated during the first few months of life given the severity of symptoms. Intelligence or developmental quotients are within the normal range for their age. Facial hypomimia, feeding, and speech articulatory performance difficulties are the main disabilities observed in these patients at follow-up.

Intoxicação espontânea por vagens de Prosopis juliflora (Leg. Mimosoideae) em bovinos no Estado de Pernambuco / Spontaneous poisoning in cattle by mesquite beans, Prosopis juliflora (Leg. Mimosoideae) in Pernambuco

Descrevem-se três surtos de intoxicação por vagens de Prosopis juliflora no Sertão e Agreste de Pernambuco, na região semi-árida, em animais pastejando áreas invadidas pela planta ou que ingeriram as vagens como alimento concentrado. Em duas fazendas nas que a doença ocorria esporadicamente foram observados casos individuais. Em outra, o surto afetou um rebanho de 1206 bovinos, dos quais adoeceram 112 (9,28 por cento) e morreram 84 (6,96 por cento), enquanto os demais 28 (2,32 por cento) recuperaram-se e ganharam peso após a retirada das vagens da alimentação. Clinicamente observou-se, principalmente, perda de peso progressiva, atrofia da musculatura da face e masseter, mandíbula pendulosa, protrusão de língua, dificuldade de apreensão e mastigação dos alimentos, torção da cabeça para mastigar ou ruminar, salivação excessiva, disfagia e hipotonia lingual. Nos exames laboratoriais constatou-se anemia e hipoproteinemia. Na necropsia havia caquexia e diminuição de volume e coloração acinzentada dos músculos masseteres. Na histologia observou-se degeneração de neurônios do núcleo motor do trigêmeo, degeneração Walleriana do nervo trigêmeo e atrofia muscular por denervação do músculo masseter com substituição por tecido fibroso. Recomendam-se medidas para a profilaxia da intoxicação e discute-se a necessidade de desenvolver pesquisas para determinar a viabilidade econômica e sustentabilidade da utilização da algaroba como alimento animal ou humano e para produção de carvão, lenha ou madeira.

Three outbreaks of poisoning by Prosopis juliflora pods are reported in the semiarid region of the state of Pernambuco, Northeastern Brazil, in cattle grazing in fields invaded by the plant or ingesting mesquite beans as a concentrate food. In two farms the disease occurred sporadically. In another, 112 (9.28 percent) cattle out of 1206 were affected, 84 (6.96 percent) died due to emaciation, and 28 (2.32 percent) gained weight after the pods had been withdrawn from the feed. Main clinical signs were progressive weight loss, atrophy of the masseter muscles, dropped jaw, tongue protrusion, difficulties in prehending food, tilting the head during mastigation or rumination, salivation, impaired swallowing, and decreased tone of the tongue. The hematology reveals hypoproteinemia and anemia. Gross lesions were emaciation and reduction in size of the masseter muscles, which appear thinner than normal and grayish due muscular atrophy. Degeneration of neurons of the trigeminal motor nuclei, Wallerian degeneration of the trigeminal nerve roots, and muscular atrophy of the masseter muscles with substitution by fibrous tissue were observed on histologic examination. For the prevention of the poisoning is necessary to limit the amount of mesquite beans in animal nutrition. It is also necessary to develop research to determine the economic and sustainability of the use of Prosopis juliflora for animal food, human food or other uses such as charcoal, wood and fuel wood.