Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders.

Congenital cranial dysinnervation disorders (CCDDs) are a heterogeneous group of neurodevelopmental phenotypes caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial nerves. Although some CCDDs genes are known, several clinical phenotypes and their aetiologies remain to be elucidated. We describe a 12-year-old boy with hypotonia, developmental delay, sensorineural hearing loss, and keratoconjunctivitis due to lack of corneal reflex. He had a long expressionless face, severe oromotor dysfunction, bilateral agenesis/severe hypoplasia of the VIII nerve with marked atresia of the internal auditory canals and cochlear labyrinth malformation. Trio-exome sequencing identified a homozygous loss of function variant in the NEUROG1 gene (NM_006161.2: c.202G > T, p.Glu68*). NEUROG1 is considered a causal candidate for CCDDs based on (i) the previous report of a patient with a homozygous gene deletion and developmental delay, deafness due to absent bilateral VIII nerves, and severe oromotor dysfunction; (ii) a second patient with a homozygous NEUROG1 missense variant and corneal opacity, absent corneal reflex and intellectual disability; and (iii) the knockout mouse model phenotype which highly resembles the disorder observed in humans. Our findings support the growing compelling evidence that loss of NEUROG1 leads to a very distinctive disorder of cranial nerves development.

Pediatric Use of Recombinant Human Nerve Growth Factor 20 µg/mL Eye Drops (Cenegermin) for Bilateral Neurotrophic Keratopathy in Congenital Corneal Anesthesia.

PURPOSE: This study aimed to present the efficacy and safety of cenegermin eye drop (Oxervate; Dompè Farmaceutici, Milan, Italy) treatment in a pediatric patient affected by neurotrophic keratopathy (NK) with Goldenhar syndrome. METHODS: This case reports an infant presenting ulceration and a small central opacity in the cornea of the right and left eyes, respectively. The NK bilaterally worsened despite the use of therapeutic contact lenses and temporary partial tarsorrhaphy. Magnetic resonance imaging showed absence and hypoplasia of the right and left trigeminal nerves, respectively. Cenegermin eye drops were administered 1 drop/each eye, 6 times daily for 8 weeks to promote corneal healing. RESULTS: Complete healing was achieved in both eyes after treatment. During the 16-month follow-up period, no epithelial defect, recurrence, or complications were noticed, whereas corneal opacities progressively became clearer, although insignificant improvements in corneal sensitivity or in the reflex tearing were observed. CONCLUSIONS: Cenegermin was effective in treating NK in an infant with Goldenhar syndrome.

Trigeminal Nerve Compression Without Trigeminal Neuralgia: Intraoperative vs Imaging Evidence.

BACKGROUND: While high-resolution imaging is increasingly used in guiding decisions about surgical interventions for the treatment of trigeminal neuralgia, direct assessment of the extent of vascular contact of the trigeminal nerve is still considered the gold standard for the determination of whether nerve decompression is warranted. OBJECTIVE: To compare intraoperative and magnetic resonance imaging (MRI) findings of the prevalence and severity of vascular compression of the trigeminal nerve in patients without classical trigeminal neuralgia. METHODS: We prospectively recruited 27 patients without facial pain who were undergoing microvascular decompression for hemifacial spasm and had undergone high-resolution preoperative MRI. Neurovascular contact/compression (NVC/C) by artery or vein was assessed both intraoperatively and by MRI, and was stratified into 3 types: simple contact, compression (indentation of the surface of the nerve), and deformity (deviation or distortion of the nerve). RESULTS: Intraoperative evidence of NVC/C was detected in 23 patients. MRI evidence of NVC/C was detected in 18 patients, all of whom had intraoperative evidence of NVC/C. Thus, there were 5, or 28% more patients in whom NVC/C was detected intraoperatively than with MRI (Kappa = 0.52); contact was observed in 4 of these patients and compression in 1 patient. In patients where NVC/C was observed by both methods, there was agreement regarding the severity of contact/compression in 83% (15/18) of patients (Kappa = 0.47). No patients exhibited deformity of the nerve by imaging or intraoperatively. CONCLUSION: There was moderate agreement between imaging and operative findings with respect to both the presence and severity of NVC/C.

Trigeminal Cave Brain Metastasis from Prostate Adenocarcinoma: Case Report and Review of the Literature

The present study presents the case of a 66-year-old patient diagnosed with prostate adenocarcinoma 4 years earlier and treated with prostatectomy, radiotherapy, chemotherapy and hormonetherapy but still displaying high prostate-specific antigen (PSA) levels. The patient complaints were double vision and headaches. Upon physical examination, he displayed 6th cranial nerve paresis and 5th cranial nerve paresthesia. Amagnetic resonance imaging (MRI) exam was performed, which revealed a mass on the right trigeminal cave. The patient underwent surgical removal of the tumor, and the pathological analysis of the specimen established metastatic prostate cancer as the diagnosis. Brainmetastases fromprostate cancer are extremely rare and mark advanced disease, with immune system failure and blood-brain barrier breach. Prostate-specific antigen levels do not correlate with the possibility of metastatic disease. Prostate adenocarcinoma is the histologic typemost commonly associated with brainmetastases,with themeninges being more frequently affected, followed by the brain parenchyma. The neurological symptoms more often displayed are non-focal, such as headaches and mental confusion. Surgery associated with radiotherapy is the most validated treatment.

Avaliação neurológica simplificada: auxílio no diagnóstico de Hanseníase / Simplified neurological assessment: aid in the diagnosis of leprosy

Apresenta dados da Hanseníase no Brasil no Mundo. Apresenta avaliação das Lesões dos nervos periféricos, na região nasal, olhos, Nervo Facial, Nervo Trigêmeo, Teste de Acuidade Visual, Nervo Auricular, Nervo Ulnar, Nervo Mediano, Nervo Radial e Radial Cutâneo, Técnica do Estesiômetro, Nervo Fibular Profundo e Superficial, Nervo Tibial Posterior, Estesiometria nos pés.

It presents data on Hansen's disease in Brazil worldwide. Presents evaluation of peripheral nerve injuries, in the nasal region, eyes, facial nerve, trigeminal nerve, visual acuity test, auricular nerve, ulnar nerve, median nerve, radial and radial cutaneous nerve, esthesiometer technique, deep and superficial fibular nerve, Posterior Tibial Nerve, Stoichiometry in the feet.

Presenta datos sobre la enfermedad de Hansen en Brasil en todo el mundo. Presenta evaluación de lesiones de nervios periféricos, en la región nasal, ojos, nervio facial, nervio trigémino, prueba de agudeza visual, nervio auricular, nervio cubital, nervio mediano, nervio cutáneo radial y radial, técnica de estesiómetro, nervio peroneo profundo y superficial, Nervio Tibial Posterior, Estequiometria en los pies.

Il présente des données sur la maladie de Hansen au Brésil dans le monde entier. Présente l'évaluation des lésions nerveuses périphériques, dans la région nasale, les yeux, le nerf facial, le nerf trijumeau, le test d'acuité visuelle, le nerf auriculaire, le nerf ulnaire, le nerf médian, le nerf cutané radial et radial, la technique de l'esthésiomètre, le nerf fibulaire profond et superficiel, Nerf tibial postérieur, stoechiométrie dans les pieds.

Mandibular Myalgia and Miniscule Meckel's Caves.

Trigeminal neuropathy manifests as episodic sharp, shooting pain in the maxillofacial region. Contributory etiologies are myriad, ranging from central pathology affecting its origin in the brainstem to peripheral processes affecting their distal-most insertion sites. We present a case of bilateral hypoplastic Meckel's caves in an adult patient leading to the clinical symptomology of trigeminal neuralgia. To the best of our knowledge, this is the only report of its kind highlighting this anatomic variant.

Queratitis neurotrófica secundaria a malformación cerebral / Neurotrophic keratitis secondary to cerebral malformation

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Neurotrophic keratopathy secondary to trigeminal nerve aplasia in patient with Goldenhar syndrome.

CASE REPORT: A 4-year-old male diagnosed with Goldenhar syndrome, with an unremarkable ophthalmic history, develops a neurotrophic ulcer secondary to trigeminal nerve aplasia. It was treated with multilaminar amniotic membrane transplantation. DISCUSSION: Trigeminal nerve aplasia is not usually reported in Goldenhar syndrome. Therefore, it seems necessary to perform routine eye examinations, from an early age, to prevent serious complications associated with corneal anaesthesia.

Microstructural abnormalities of the trigeminal nerve correlate with pain severity and concomitant emotional dysfunctions in idiopathic trigeminal neuralgia: A randomized, prospective, double-blind study.

OBJECTIVE: To compare cross-sectional area (CSA) and volume (V) between the trigeminal nerves (TGNs) of the affected side and the unaffected side in patients with idiopathic trigeminal neuralgia (ITN), and both nerves in normal controls, and to correlate these morphological data with degree of facial pain and emotional disorder severity in ITN patients. METHODS: Forty ITN patients and 40 matched healthy volunteers underwent three-dimensional fast imaging employing steady state acquisition (3D-FIESTA) and time-of-flight magnetic resonance angiography (TOF-MRA) focusing on CSA and V of the TGN cisternal segment. Correlations between the morphological results and scores of visual analogue scale (VAS), Hamilton Depression Rating Scale (HAMD), and Hamilton Anxiety Rating Scale (HAMA) were analyzed in two groups. RESULTS: CSA and V of the affected TGN were significantly smaller than in the unaffected TGN and both sides in controls. No statistical differences were observed between morphological data of the unaffected TGN and control TGNs. CSA and V of the affected TGN were significantly associated with VAS scores in ITN patients, and intermediate correlations were detected with HAMD and HAMA scores. CONCLUSION: Degree of atrophy in the affected TGN can be effective for evaluating facial pain and assessing emotional deficits in ITN patients.

Estimulación de nervios occipitales en el tratamiento de la migraña crónica refractaria / Occipital nerve stimulation for refractory chronic migraine

Introducción. La estimulación de nervios occipitales (ENO) es un tratamiento preventivo de la migraña crónica refractaria que está adquiriendo una importancia creciente en los últimos años. Objetivo. Evaluar el mecanismo de acción, estudios clínicos, técnica de implantación y criterios de inclusión de la ENO en el tratamiento preventivo de la migraña. Desarrollo. Se realiza una revisión no sistemática de la bibliografía sobre los aspectos anteriormente expuestos en la ENO como tratamiento para la migraña crónica. Esta patología afecta aproximadamente al 2% de la población y da lugar a una importante disminución de la calidad de vida e interferencia con las actividades laborales y sociales. La ENO es una terapia emergente y prometedora para el tratamiento de la migraña crónica que ha demostrado una disminución superior al 50% en el dolor en la mayoría de los estudios abiertos y ensayos clínicos publicados. Aunque el mecanismo de acción es desconocido, parece existir una neuromodulación de la información nociceptiva trigeminal en el núcleo caudal del trigémino explicada mediante la teoría de la puerta de entrada de Melzack y Wall. La ENO es un tratamiento seguro y bien tolerado, y los efectos secundarios son habitualmente locales, como desplazamiento de los electrodos o infecciones de la herida quirúrgica, que habitualmente no requieren su retirada. Conclusiones. La ENO es un tratamiento eficaz, bien tolerado y seguro en la prevención de la migraña crónica, y supone una opción útil para aquellos pacientes con migraña crónica refractaria a los tratamientos médicos convencionales (AU)

Introduction. Occipital nerve stimulation (ONS) is an emerging and promising preventive treatment for refractory chronic migraine. Aim. To evaluate the mechanisms of actions, clinical studies, implantation techniques and inclusion criteria of the ONS as a preventive treatment for migraine. Development. This work includes a non-systematic review of the literature on the above-mentioned aspects of ONS as a treatment for refractory chronic migraine. This disease affects approximately 2% of the population and results in a significant impairment in quality of life, economic burden and interference with labor and social activities. ONS is an emerging and promising therapy for the treatment of chronic migraine with greater than 50% pain reduction in most of open-label studies and published clinical trials. Although the mechanisms of action remain unknown, there seem to be a neuromodulation of the transmitted nociceptive trigeminal information in the trigeminal caudal nucleus, what could be explained by means of the Melzack and Wall pain gate theory. ONS is a safe and well tolerated treatment, and its most frequent side effects are usually local such as electrodes displacement or infections of the surgical incision. These complications do not usually require the electrodes withdrawal. Conclusions. ONS is an effective, well tolerated and safe treatment for the prevention of chronic migraine and could emerge as a useful option for those patients with medically refractory chronic migraine (AU)

Unilateral ulceration of the cornea secondary to congenital trigeminal nerve agenesis.

PURPOSE: To report a case of unilateral ulceration of the cornea secondary to congenital trigeminal nerve agenesis. METHODS: Case report. RESULTS: We report the case of a 7-month-old boy referred to our department for left infectious keratitis. An impassive reaction to eyedrops and bandage contact lenses was noted during the follow-up examinations and corneal sensitivity remained negative. Mouth ulcers and self-injury in the left nostril were detected during these follow-up consultations. These symptoms were secondary to self-mutilation and associated with anesthesia in the distribution of all divisions of the left trigeminal nerve. Congenital trigeminal nerve agenesis was confirmed by magnetic resonance imaging slices at age 2. CONCLUSIONS: Magnetic resonance imaging can confirm congenital nerve agenesis, a cause of childhood neurotrophic keratitis. Radiologic confirmation of agenesis allows elimination of other diagnoses.

Trigeminal nerve agenesis with absence of foramina rotunda in Gómez-López-Hernández syndrome.

Gómez-López-Hernández syndrome (GLHS) is a clinical condition traditionally characterized by rhombencephalosynapsis (RS), parieto-occipital alopecia, and trigeminal anesthesia. It is a neurocutaneous disorder with no known etiology. The underlying cause of the trigeminal anesthesia in GLHS has not been examined or reported; it has merely been identified on clinical grounds. In this report, a 10-month-old white female born at 37 weeks gestational age with GLHS underwent a contrast-enhanced CT for the evaluation of craniofacial dysmorphic features. Thin-section bone algorithm images showed absence of bilateral foramina rotunda and trigeminal nerve fibers. The maxillary branch of the trigeminal nerve passes through the foramen rotundum and carries sensory information from the face. This case is unique because trigeminal nerve absence has not been suggested as a possible etiology for trigeminal anesthesia associated with GLHS. It is not known how many cases of GLHS have agenesis of the trigeminal nerve; however, a review of the literature suggests that this patient is the first. The triad of RS, alopecia, and trigeminal anesthesia is specific to GLHS; therefore, early identification of trigeminal nerve agenesis in patients with RS could expedite diagnosis of GLHS, particularly given that the clinical diagnosis of trigeminal anesthesia in neonates is a challenging one. Diagnosing alopecia in newborns is likewise challenging. Early diagnosis could allow for early intervention, especially for ophthalmic complications, which are known to have significant long-term effects. This case illustrates the benefits of CT imaging in the detection of trigeminal nerve and foramina rotunda abnormalities in neonates with suspected GLHS.

Radiosurgery target location and individual anatomical variation in trigeminal nerves.

OBJECT: The authors evaluated individual anatomical variations in the trigeminal nerves of patients with medically intractable trigeminal neuralgia and clarified the relationships among the variations, radiosurgical target locations, and the clinical outcomes after high-dose Gamma Knife surgery (GKS). METHODS: From 2006 through 2011, the authors conducted a retrospective review of 106 cases of primary or secondary trigeminal neuralgia consecutively treated with GKS targeting the dorsal root entry zone (DREZ) for which a maximal dose of 90 Gy and a 20% isodose line to the brainstem were used. A questionnaire was used to evaluate patients' pre- and post-GKS clinical conditions. To evaluate individual anatomical variations among trigeminal nerves, the authors used 3 parameters: the length of the trigeminal nerve in the cistern (nerve length), the length of the target between the radiation shot and the brainstem (targeting length), and the ratio between nerve length and targeting length (targeting ratio). RESULTS: The median length of the trigeminal nerves in the 106 patients was 9.6 mm (range 6.04-20.74 mm), the median targeting length was 3.8 mm (range 1.81-10.84 mm), and the median targeting ratio was 38% (range 13%- 80%). No statistically significant differences in pain relief and pain recurrence were detected among patients with these various nerve characteristics. However, radiation-induced facial hypesthesia correlated with nerve length and targeting ratio (p < 0.05) but not with absolute distance from the brainstem (targeting length). CONCLUSIONS: In trigeminal neuralgia patients who received DREZ-targeted GKS, the rate of pain relief did not differ according to anatomical nerve variations. However, the frequency of facial hypesthesia was higher among patients in whom the nerve was longer (> 11 mm) or the targeting ratio was lower (< 36%). Adjusting the target according to the targeting ratio, especially for patients with longer nerves, can reduce facial hypesthesia and enable maintenance of effective pain control.

Marcus Gunn jaw winking synkinesis: report of two cases.

Marcus Gunn jaw winking synkinesis (MGJWS) is caused by congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. It has been observed in 2-13% of patients with congenital ptosis. Although bilateral cases were reported, most were unilateral and occurred more frequently on the left side than the right. We report two cases of children who presented with ptosis and were diagnosed with MGJWS.

Trigemino-abducens synkinesis after lateral orbitotomy.

A 30-year-old man underwent lateral orbitotomy with removal of dermoid cyst in the right orbit. One month after operation, the patient started to experience double vision. He had 25 prism diopters of esotropia in primary gaze with marked limitation of abduction in the right eye. Seven months after the operation, he developed synkinetic movement of the eye when clenching his teeth. He could abduct his right eye while gritting his teeth. This is the fourth reported case of trigemino-abducens synkinesis and the first reported case without brain trauma.

Description of a communication between the facial and zygomaticotemporal nerves.

Communicating branches between the facial and the trigeminal nerves are known to exist; however, both their frequency and significance are incompletely understood. In our anatomic dissections, we observed a consistent anastomosis between the temporal branch of the facial nerve and the zygomaticotemporal branch of the trigeminal nerve. The facial nerves were dissected in 17 cadaveric half faces. The communicating facial-zygomaticotemporal nerve branches piercing the superficial layer of the deep temporal fascia were identified and followed through the fascial and muscular planes. Fourteen out of 17 dissected cadaveric half faces contained communications between trigeminal and facial nerves. In these specimens, one or two branches from the temporal branch of the facial nerve would penetrate the superficial layer of the deep temporal fascia to join the zygomaticotemporal nerve. These communications were found at an average of 36 mm lateral and 2 mm superior to the lateral canthus. Due to the cadaveric nature of the study it is difficult to ascertain the function of the described communication. Our histochemical analysis suggests that these connections contain myelinated fibers, which could either be proprioceptive or motor fibers.

Bilateral Marcus Gunn jaw winking synkinesis with monocular elevation deficiency: a case report and literature review.

Marcus Gunn jaw winking synkinesis (MGJWS) occurs due to an aberrant innervation of the levator palpebrae superioris muscle by a branch of the motor division of the trigeminal nerve that supplies the muscles of mastication. MGJWS is mostly unilateral occurring in isolation and is less frequently associated with ocular or systemic abnormalities. Although MGJWS is mostly unilateral, few bilateral cases have been reported. Here we describe a rare case of bilateral MGJWS in an 18 year-old male patient with asymmetric bilateral ptosis and monocular elevation deficiency in the right eye.

Trigeminal neuralgia and persistent trigeminal artery.

We report a case of trigeminal neuralgia caused by persistent trigeminal artery (PTA) associated with asymptomatic left temporal cavernoma. Our patient presented unstable blood hypertension and the pain of typical trigeminal neuralgia over the second and third divisions of the nerve in the right side of the face. The attacks were often precipitated during physical exertion. MRI and Angio-MRI revealed the persistent carotid basilar anastomosis and occasionally left parietal cavernoma. After drug treatment of blood hypertension, spontaneous recovery of neuralgia was observed and we planned surgical treatment of left temporal cavernoma.

Duane retraction syndrome type I, Marcus Gunn jaw-winking and crocodile tears in the same eye.

Duane retraction syndrome type I, Marcus Gunn jaw-winking and crocodile tears are all syndromes of congenital aberrant innervation. The authors describe a 17-month-old boy with Duane retraction syndrome type I, Marcus Gunn Jaw-winking, and crocodile tears in the same eye and discuss the proposed mechanisms of these conditions.

Atypical Duane's retraction syndrome: congenital adduction palsy with synergistic divergence in association with aberrant trigeminal innervation and facial hypoplasia.

The authors describe the atypical and unique features of trigeminal-oculomotor synkinesis in a 6-year-old boy with left congenital adduction palsy and synergistic divergence with facial hypoplasia. Adducting movements of the left eye were also seen on mastication. To the best of the authors' knowledge, a case of this nature has not previously been reported. This case illustrates the absence of changes in palpebral aperture and globe retraction on attempted adduction and also the complete absence of any abduction deficit of the involved eye. Additionally, presence of adducting movements on mastication suggests a trigemino-oculomotor synkinesis. Hypothesis favors an anomalous innervation of the medial rectus muscle from the motor branch of the trigeminal nerve that innervates the external pterygoids.