Blepharospasm With Photophobia Secondary to Midbrain Tuberculoma and Thalamic Infarct.

INTRODUCTION: Blepharospasm is a type of focal dystonia and categorized into primary and secondary forms, based on whether or not a cause can be established. Secondary blepharospasm is uncommon and can be associated with underlying brain lesions. Photophobia is a prominent complaint in blepharospasm patients. We are reporting a case of secondary blepharospasm with photophobia in a patient who had underlying midbrain tuberculoma and thalamic infarcts. This type of presentation has not been reported to the best of our knowledge. CASE REPORT: A 26-year-old man presented to us with the complaint of increased blinking and involuntary closure of both eyes for 1 year. He had a past history of tubercular meningitis 16 years back when he presented with bilateral ptosis, left up gaze palsy and right hemiparesis suggestive of Weber syndrome. His magnetic resonance images of the brain were suggestive of multiple intracranial tuberculomas, thalamic infarcts, and noncommunicating hydrocephalus. Following treatment he recovered significantly with no residual neurological deficit except mild bilateral ptosis. His recent magnetic resonance images of the brain was suggestive of calcified granuloma in the midbrain and chronic left thalamic lacunar infarcts. He was treated with injection Onabotulinum toxin and his symptoms improved significantly. CONCLUSIONS: Our patient had tuberculoma in the midbrain and chronic infarcts in the thalamus, and both lesions may cause blepharospasm and photophobia independently, so it is difficult to ascertain the causative lesion in our patient. However, it is possible that these heterogenous lesions are all part of a single functionally connected brain network and further studies are required to confirm this hypothesis.

Epidemiology of benign essential blepharospasm: A nationwide population-based retrospective study in Taiwan.

IMPORTANCE: This study provides a nationwide, population-based data on the incidence of benign essential blepharospasm in Asian adults. BACKGROUND: To describe the incidence, patient demographics, and risk factors associated with benign essential blepharospasm. DESIGN: Population-based retrospective study. PARTICIPANTS AND SAMPLES: A total of 1325 patients with benign essential blepharospasm were identified. METHODS: Patients with diagnosis of blepharopsasm between January 2000 and December 2013 were sampled using the Longitudinal Health Insurance Database 2000. Secondary blepharospasm that may be related to neurological, trauma, and ocular surface disease were excluded. MAIN OUTCOME MEASURED: Multivariate conditional logistic regression was used to estimate the odds ratios for potential risk factors of benign essential blepharospasm. RESULTS: The mean annual incidence was 0.10‰ (0.07‰ for males, and 0.12‰ for females). The peak incidence was in the 50 to 59-year-old age group (0.19‰). People living in urban regions have more risk of developing blepharospasm comparing to people living in less urban regions (p <0.01). White-collar workers also have higher chance of having blepharospasm (p<0.001). Significant difference between control group and case group in hyperlipidemia (p <0.001), sleep disorders (p <0.001), mental disorders (depression, anxiety, obsessive compulsive disorder) (p <0.001), dry eye-related diseases (dry eye, Sjögren's syndrome) (p <0.001), Parkinson's disease (p <0.004), and rosacea (p <0.021) were also identified. CONCLUSIONS AND RELEVANCE: Higher level of urbanization, white-collar work, sleep disorders, mental health diseases, dry eye-related diseases, Parkinsonism, and rosacea are possible risk factors for benign essential blepharospasm.

Treatment of Blepharospasm in Schwartz-Jampel Syndrome: Botulinum Toxin A Injection or Surgery.

Schwartz-Jampel syndrome is an autosomal recessive disease that comprises facial and musculoskeletal deformity. Hereby, the authors report 2 cases of Schwartz-Jampel syndrome and surgical method of their management. The first case was a boy who was result of twin delivery whose sibling was completely normal. The second case was a girl who was the first child of her family. Both were born to a consanguineous marriage. Both had developed characteristic facial expressions of Schwartz-Jampel syndrome between 18 and 24 months of age. They had Botulinum toxin A injection (twice in the first and ones in the second case) with no improvement. Both were referred because of being functionally blind due to inability to open the eyelids around age 3.5 years. Orbicularis oculi myectomy, partial corrugator muscle excision, levator tucking, and lateral tarsal strip procedure was performed on both cases. No complication and no recurrence of eyelid contraction were observed after 4 years and 6 months follow up in the first and second case, respectively.

Ultraviolet Keratitis: From the Pathophysiological Basis to Prevention and Clinical Management.

Ultraviolet keratitis is caused by the toxic effects of acute high-dose ultraviolet radiation (UVR) reflecting the sensitivity of the ocular surface to photochemical injury. The clinical syndrome presents with ocular pain, tearing, conjunctival chemosis, blepharospasm, and deterioration of vision typically several hours after exposure, lasting up to 3 days. Mountaineers, skiers, and beach recreationalists are particularly at risk to suffer from ultraviolet (UV) keratitis as the reflectivity of UVR in these environments is extremely high. The aim of this review is to raise awareness about the potential of UV damage on the eye with an emphasis on UV keratitis, to highlight the pathophysiological basis of corneal phototoxicity, and to provide practical guidance for the prevention and clinical management of UV keratitis commonly known as snow blindness.

[Blepharospasm as the presenting symptom of a brain stem glioma]. / Blefaroespasmo como sintoma de presentacion de un glioma del tronco encefalico.

TITLE: Blefaroespasmo como sintoma de presentacion de un glioma del tronco encefalico.

Blepharospasm and apraxia of eyelid opening associated with anti-Hu paraneoplastic antibodies: a case report.

PURPOSE: To report a case of blepharospasm associated with anti-Hu paraneoplastic antibodies that was treated successfully with botulinum toxin A. DESIGN: Case report. PARTICIPANTS: A 57-year-old man had altered mental status and a 20-pound weight loss at presentation. Evaluation revealed an occult small-cell lung cancer. Despite initiating appropriate chemotherapy, his mental status worsened and over the course of several weeks, he was unable to open his eyes because of forceful orbicularis contractions. Neuroimaging and cerebrospinal fluid studies found no evidence of intracranial metastases. However, his paraneoplastic panel was positive for anti-Hu antibodies. He was diagnosed with paraneoplastic encephalitis and blepharospasm. INTERVENTION: Intravenous Solu-Medrol (Pharmacia & Upjohn Co, Bridgewater, NJ) and periocular injections of botulinum toxin A. MAIN OUTCOME MEASURES: Ocular disease control. RESULTS: Intravenous Solu-Medrol improved his mental status, but did not change his ocular symptoms. Subsequent botulinum toxin A injections allowed spontaneous eyelid opening. CONCLUSIONS: Although paraneoplastic blepharospasm is rare, it is an important diagnosis to be aware of because paraneoplastic disorders often herald an occult tumor. This is the only case of paraneoplastic blepharospasm that the authors know of that was the result of anti-Hu antibodies as well as the only case that was treated with botulinum toxin A.

Blefaroespasmo essencial: revisão da literatura / Essential blepharospasm: literature review

O blefaroespasmo essencial é uma distonia focal caracterizada por contrações involuntárias, espasmódicas e bilaterais dos músculos orbicular da pálpebra, corrugador, prócerus e depressor do supercílio. Trata-se de uma doença rara, cujo diagnóstico é frequentemente tardio, o que permite a progressão dos sintomas até quadros de cegueira funcional. Nesse estudo, por meio de revisão da literatura, descreve-se as principais características da doença, incluindo os seguintes aspectos: histórico, epidemiologia, etiologia, quadro clí­nico, diagnóstico diferencial e tratamento.

Essential blepharospasm is a focal distonia characterized by involuntary, spasmodic, bilateral contractions of eyelid protractors. This is a rare disease, which diagnosis is frequently late and symptoms may progress until functional blindness. In this article, we perform a review and describe the most important features of the disease, including historical aspects, epidemiology, etiology, clinical findings, differential diagnosis and treatment.

Orbicularis oculi myo-osseous fixation: a new treatment for benign essential blepharospasm and blepharospasm associated with diffuse facial dystonia (meige syndrome).

BACKGROUND AND OBJECTIVE: This article describes a novel surgical procedure, myo-osseous fixation, as an adjunct therapy for patients with reduced or poor response to repeated botulinum toxin injections for essential blepharospasm and Meige syndrome. PATIENTS AND METHODS: The small-incision, rapidly healing, rapidly performed technique uses self-drilling titanium screws tightly engaged with a compression wrench. The screws fixate the periorbital orbicularis oculi muscle to bone, creating mechanical resistance to outer portions of the orbicularis muscle involved in debilitating involuntary contractions. RESULTS: Eleven of the treated 12 patients experienced immediate improvement in function. Each responding patient noted enhanced effect of subsequent botulinum toxin injections at previously ineffective doses. The benefit was substantial and sustained for 6 months in 9 of 12 patients. Decreased brow depression during forced closure, forced frown, and brow elevation at rest was apparent in all patients postoperatively. Although the brow elevation effect was reduced after 6 months, reduced brow depression during forced closure still was easily demonstrated in most patients. Complications included a nodular bump over the brow, more commonly found when large titanium screws were used, transient headache, and easily removed dislodged screw. CONCLUSION: Initial data suggest that this procedure appears safe, well tolerated, and useful in the treatment of patients with essential blepharospasm and Meige syndrome responding poorly to botulinum toxin therapy.

Radiotherapy for canine chronic superficial keratitis using soft X-rays (15 kV).

OBJECTIVE: To evaluate the effect of soft X-ray therapy in the treatment of refractory chronic superficial keratitis (CSK). ANIMALS STUDIED: Thirteen dogs with severe CSK, that had been refractory to prior medical and/or surgical therapy were treated with soft X-ray therapy. PROCEDURES: Both corneas of each dog were irradiated with soft X-rays (15 kV), to a total dose of 30 Gy, administered as two fractions over 48-96 h. Treatment was carried out under deep sedation in all dogs. Three dogs were treated by superficial lamellar keratectomy 48 h prior to radiotherapy. Changes in the extent of corneal pigmentation, pigment density and corneal vascularization were documented using a semi-quantitative grading scheme, schematic drawings and clinical photographs. RESULTS: Only minor, transient adverse effects of treatment, such as photophobia, epiphora and blepharitis were noted. Overall the effect of soft X-rays on the course of the keratitis was superior when compared to the effect of Sr-90 irradiation that had been determined in a previous study. CONCLUSION: Soft X-ray irradiation combined with keratectomy is a safe and effective new treatment option for severe and advanced CSK with significant visual impairment due to corneal pathology.

Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene.

Mohr-Tranebjaerg syndrome (MTS) is an X-linked disorder characterized by childhood-onset progressive deafness, dystonia, spasticity, mental deterioration, and blindness. It is due to mutations in the deafness/dystonia peptide (DDP1) gene. We describe a sporadic 42-year-old man with MTS presenting with postlingual deafness, adult-onset progressive dystonia with marked arm tremor, mild spasticity of the legs, and visual disturbance due to a novel mutation (g to a transition at the invariant gt of the 5' splice donor site of exon 1) in the DDP1 gene. This case, and a review of previously reported cases, highlights a variety of potential diagnostic pitfalls in this condition.

Schwartz-Jampel syndrome: surgical management of the myotonia-induced blepharospasm and acquired ptosis after failure with botulinum toxin A injections.

A 6-year-old boy with Schwartz-Jampel syndrome and severe myotonia-induced blepharospasm and ptosis did not respond to botulinum toxin A injections in the orbicularis muscle. The clinical diagnosis was further supported by electromyography. Surgical management using a combination of techniques in one operation produced a satisfactory result for both function and appearance. Muscle biopsy was also done during surgery.

[Anti-Ri paraneoplastic syndrome associated with ophtalmoplegia, blepharospasm and palilalia]. / Ophtalmoplégie, blépharospasme et palilalie associés à des anticorps anti-Ri.

INTRODUCTION: Anti-Hu and anti-Yo are the most well-known anti-neuronal antibodies. The anti-Ri antibodies, which are less common, are generally found in subjects with opsoclonus-myoclonus, often associated with breast cancer. CASE REPORT: A 54-year-old woman presented anti-Ri antibodies associated with a paraneoplastic syndrome and unusual symptoms of ophthalmoplegia, blepharospasm, palilalia and ataxia. Adenocarcinoma of the breast was also found. After chemotherapy, radiotherapy, and several immunoglobulin infusions, the patient did not improve ten months after tumor surgery. CONCLUSION: Anti-Ri antibodies associated with paraneoplastic syndrome can be observed in patients who develop a rapidly progressive brainstem tumor. Breast or lung cancer and conduct to search a breast or pulmonary cancer.

Epidemiology of primary blepharospasm.

We review epidemiological data on primary blepharospasm (BSP). There is a large variation in the stated prevalence of BSP, with crude estimates ranging from 16 to 133 per million in different studies. A large proportion of this variability may be the result of differences in physician education on BSP. Age and female gender may increase the risk of developing BSP. The few case-control studies focusing on adult dystonias including BSP showed an increased risk in association with family history of dystonia and/or postural tremor, prior head and face trauma, and prior eye disease (e.g., blepharitis and keratoconjunctivitis), and a decreased risk associated with cigarette smoking. No association was found with age-related medical conditions such as hypertension and diabetes, family history of parkinsonism, and a history of anxiety or depression. Broocks et al. [Am J Psychiatry, 1998;155:555-557] found a significantly higher frequency of obsessive-compulsive symptoms in BSP than hemifacial spasm despite the clinical similarity. Among putative risk factors for BSP, age at onset, female gender, and prior head or face trauma may affect spread of dystonia to adjacent body regions. While limited, the body of epidemiological data support the idea that environmental and familial, possibly genetic, factors may both be important in the etiology of BSP.

Orbicularis myectomy with levator advancement in Schwartz-Jampel syndrome.

PURPOSE: Schwartz-Jampel syndrome is a disorder of continuous myotonia causing blepharospasm, acquired ptosis, and blepharophimosis. We report the management of the associated eyelid anomalies with orbicularis oculi myectomy, levator aponeurosis resection, and lateral canthopexy. METHODS: Interventional case reports. Two patients with Schwartz-Jampel syndrome presented with blepharospasm, acquired ptosis, and blepharophimosis. Orbicularis myectomy, levator aponeurosis resection, and lateral canthopexy were performed to relieve the blepharospasm and to correct the ptosis and blepharophimosis. RESULTS: Significant functional and cosmetic improvements were achieved by increasing the palpebral fissure height and length while greatly decreasing the blepharospasm of the patients. No recurrence of the blepharospasm or eyelid anomalies has been noted after 1 and 15 years of follow-up, respectively. CONCLUSION: The blepharospasm and eyelid alterations caused by Schwartz-Jampel syndrome should be treated to provide functional and cosmetic improvements. Our technique of myectomy, levator resection, and lateral canthopexy provides an excellent, long-lasting result.