RESUMO
BACKGROUND: Pneumocephalus has been described as an unintended outcome after epidural injections. However, oculomotor palsy from pneumocephalus after epidural injection is very rare. CASE REPORT: We report a case of pneumocephalus-induced sixth nerve palsies and diplopia in an 87-year-old woman after epidural steroid injection. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Pneumocephalus-induced oculomotor palsy is a rare complication after epidural injection, a commonly performed medical procedure. Knowledge of this presentation will help emergency physicians distinguish between this entity and other causes of neurologic deficits.
Assuntos
Doenças do Nervo Abducente/etiologia , Injeções Epidurais/efeitos adversos , Pneumocefalia/complicações , Idoso de 80 Anos ou mais , Diplopia/etiologia , Serviço Hospitalar de Emergência/organização & administração , Feminino , Humanos , Pneumocefalia/etiologia , Esteroides/uso terapêuticoAssuntos
Vacinas contra Influenza/efeitos adversos , Influenza Humana/prevenção & controle , Doenças do Nervo Óptico/etiologia , Doenças do Nervo Óptico/fisiopatologia , Vacinação/efeitos adversos , Criança , Feminino , Glucocorticoides/uso terapêutico , Humanos , Infusões Intravenosas , Metilprednisolona/uso terapêutico , Doenças do Nervo Óptico/tratamento farmacológicoRESUMO
A 73-year-old woman presented with transient episodes of dysarthria and horizontal diplopia. She had stereotactic radiosurgery 18 years prior for a retroclival meningioma. Neurologic examination was notable for right-sided tongue deviation, tongue fasciculations, and intermittent impaired abduction of the right eye. MRI ruled out recurrence or progression of the retroclival meningioma. EEG failed to reveal electrographic seizures. EMG showed spontaneous depolarizations in bursts that sounded like "marching soldiers" in the right hemitongue, consistent with myokymia. Focal myokymia is an unusual EMG finding that is usually seen in demyelinating disorders, after radiation, or in neoplastic/inflammatory conditions. The clinical presentation and EMG findings were most consistent with delayed radiation-induced myokymia. Similar cases of transient dysarthria and tongue myokymia from radiation have been infrequently reported in the literature; however, this case uniquely exhibited additional episodes of transient horizontal diplopia, which was possibly from ocular myokymia or neuromyotonia. Although there are limited data, sodium channel inhibitors (e.g., carbamazepine, oxcarbazepine, and lacosamide) have shown some success to provide symptomatic relief, most likely secondary to their ability to inhibit underlying peripheral nerve hyperexcitability. Our patient was started on lacosamide 50 mg twice a day with a notable decrease in symptom frequency. This case illustrates the importance of detailed clinical and electrodiagnostic studies in making the diagnosis of delayed radiation-induced myokymia with episodic dysarthria and provides guidance on potential therapeutics.
Assuntos
Neoplasias Meníngeas , Meningioma , Mioquimia , Idoso , Raciocínio Clínico , Diplopia/diagnóstico , Diplopia/etiologia , Disartria/etiologia , Feminino , Humanos , LacosamidaRESUMO
Granular cell tumors of the pituitary belong to a rare family of neoplasms, arising from the posterior pituitary gland. Although considered benign, they may cause significant morbidity and residual disease after resection can lead to poor clinical outcomes. Currently, there is no known medical therapy for any posterior pituitary gland tumor, in part due to sparse molecular characterization of these lesions. We report data from whole exome sequencing of a case of granular cell tumor of the pituitary, performed under an institutional review board approved protocol. A 77 year-old female underwent resection of an incidentally diagnosed pituitary mass that was causing radiographic compression of the optic nerves with a subclinical temporal field defect and central hypothyroidism. The pathology of the resected specimen demonstrated a granular cell tumor of the posterior pituitary gland. Whole-exome sequencing revealed mutations predicted to be deleterious in key oncogenes, SETD2 and PAX8, both of which have been described in other cancers and could potentially be amenable to targeted therapies with existing approved drugs, including immune checkpoint inhibitors and histone deacetylase inhibitors, respectively. To our knowledge, this is the first comprehensive genomic characterization of granular cell tumor of the posterior pituitary gland. We report mutations in oncogenes predicted to be deleterious and reported in other cancers with potential for therapeutic targeting with existing pharmacologic agents. These data provide new insights into the molecular pathogenesis of GCT of the pituitary and may warrant further investigation.
Assuntos
Tumor de Células Granulares/genética , Neuro-Hipófise/patologia , Neoplasias Hipofisárias/genética , Idoso , Feminino , Genômica/métodos , Humanos , Hipotireoidismo/genética , Neoplasias Hipofisárias/patologiaRESUMO
Optic nerve glioma (ONG) is a rare, typically slow-growing WHO I grade tumor that affects the visual pathways. ONG is most commonly seen in the pediatric population, in association with neurofibromatosis type 1 syndrome. However, sporadic adult cases may also occur and may clinically behave more aggressively, despite benign histopathology. Genetic characterization of these tumors, particularly in the adult population, is lacking. A 39-year-old female presented with 1 month of progressive left-sided visual loss secondary to a enhancing mass along the left optic nerve sheath. Initial empiric management with focal radiotherapy failed to prevent tumor progression, prompting open biopsy which revealed a WHO I pilocytic astrocytoma of the optic nerve. Whole-exome sequencing of the biopsy specimen revealed somatic mutations in NF1,FGFR1 and PTPN11 that may provide actionable targets for molecularly guided therapies. Genetic characterization of ONG is lacking but is needed to guide the management of these rare but complex tumors. The genomic alterations reported in this case contributes to understanding the pathophysiology of adult sporadic ONG and may help guide future clinical prognostication and development of targeted therapies.
Assuntos
Astrocitoma/genética , Glioma do Nervo Óptico/genética , Neoplasias do Nervo Óptico/genética , Adulto , Astrocitoma/patologia , Progressão da Doença , Feminino , Humanos , Mutação , Neurofibromina 1/genética , Glioma do Nervo Óptico/patologia , Neoplasias do Nervo Óptico/patologia , Proteína Tirosina Fosfatase não Receptora Tipo 11/genética , Receptor Tipo 1 de Fator de Crescimento de Fibroblastos/genética , Sequenciamento do ExomaRESUMO
[Full article available at http://rimed.org/rimedicaljournal-2019-03.asp].
Assuntos
Retinite/diagnóstico , Toxoplasmose Ocular/diagnóstico , Adulto , Feminino , Humanos , Retinite/parasitologia , Retinite/fisiopatologia , Toxoplasma/isolamento & purificação , Toxoplasmose Ocular/fisiopatologia , Acuidade VisualAssuntos
Diplopia/etiologia , Dor de Orelha/etiologia , Otite Média Supurativa/complicações , Trombose dos Seios Intracranianos/etiologia , Visão Ocular , Antibacterianos/uso terapêutico , Anticoagulantes/uso terapêutico , Pré-Escolar , Diplopia/fisiopatologia , Diplopia/terapia , Dor de Orelha/terapia , Humanos , Imageamento por Ressonância Magnética , Masculino , Ventilação da Orelha Média , Otite Média Supurativa/diagnóstico , Otite Média Supurativa/terapia , Trombose dos Seios Intracranianos/diagnóstico por imagem , Trombose dos Seios Intracranianos/terapia , Punção Espinal , Resultado do TratamentoRESUMO
OBJECTIVE: To delineate the factors contributing to overdiagnosis of idiopathic intracranial hypertension (IIH) among patients seen in one neuro-ophthalmology service at a tertiary center. METHODS: We retrospectively reviewed new patients referred with a working diagnosis of IIH over 8 months. The Diagnosis Error Evaluation and Research taxonomy tool was applied to cases referred with a diagnosis of IIH and a discrepant final diagnosis. RESULTS: Of 1,249 patients, 165 (13.2%) were referred either with a preexisting diagnosis of IIH or to rule out IIH. Of the 86/165 patients (52.1%) with a preexisting diagnosis of IIH, 34/86 (39.5%) did not have IIH. The most common diagnostic error was inaccurate ophthalmoscopic examination in headache patients. Of 34 patients misdiagnosed as having IIH, 27 (27/34 [79.4%]; 27/86 [31.4%]) had at least one lumbar puncture, 29 (29/34 [85.3%]; 29/86 [33.7%]) had a brain MRI, and 8 (8/34 [23.5%]; 8/86 [9.3%]) had a magnetic resonance/CT venogram. Twenty-six had received medical treatment, 1 had a lumbar drain, and 4 were referred for surgery. In 8 patients (8/34 [23.5%]; 8/86 [9.3%]), an alternative diagnosis requiring further evaluation was identified. CONCLUSIONS: Diagnostic errors resulted in overdiagnosis of IIH in 39.5% of patients referred for presumed IIH, and prompted unnecessary tests, invasive procedures, and missed diagnoses. The most common errors were inaccurate ophthalmoscopic examination in headache patients and thinking biases, reinforcing the need for rapid access to specialists with experience in diagnosing optic nerve disorders. Indeed, the high prevalence of primary benign headaches and obesity in young women often leads to costly and invasive evaluations for presumed IIH.