Nitrous Oxide-induced Myeloneuropathy Due to Recreational Abuse.

BACKGROUND: The recreational use of nitrous oxide (N2O) has increased in recent years with a noticeable surge in the incidence of nitrous oxide-related myeloneuropathy. OBJECTIVES: To raise awareness of increasing myeloneuropathy due to recreational nitrous oxide misuse in Israel. METHODS: We conducted a case series documenting the clinical and investigative features of eight patients presenting with nitrous oxide-induced myeloneuropathy who were admitted to our departments. RESULTS: Paresthesia was the chief complaint in all patients, with sensory gait ataxia being a common feature, which was often accompanied by Romberg's sign and mild lower limb weakness. Vitamin B12 levels were below the normal range in seven patients, accompanied by elevated homocysteine and methylmalonic acid levels. Magnetic resonance imaging scans revealed hyperintense signals in the dorsal columns of the cervical spine. All patients improved following vitamin B12 injections. CONCLUSIONS: Enhancing awareness, prompting the use of appropriate investigations, and advocating for timely treatment are needed to overcome the risks associated with nitrous oxide misuse.

Roussy-Lévy Syndrome: Pes Cavus, Tendon Areflexia, Amyotrophy, Gait Ataxia, and Upper Limb Tremor in a Patient with CMT Neuropathy.

Background: Roussy-Lévy syndrome (RLS) is characterized by postural hand tremor seen in patients with familial autosomal dominant Charcot-Marie-Tooth (CMT) neuropathy. Phenomenology Shown: This video demonstrates irregular, jerky bilateral kinetic, postural, rest tremor affecting the right > left hand, along with pes cavus and gait ataxia in a patient with CMT disease. Educational Value: Pes cavus, tendon areflexia, sensory ataxia, and upper limb tremor should prompt consideration of CMT neuropathy. Highlights: This video abstract depicts a bilateral hand tremor characteristic of Roussy-Lévy syndrome seen in patients with Charcot-Marie-Tooth disease neuropathy. The significance of the abstract lies in the phenomenology and the physiology of the tremor seen in patients with genetically confirmed duplication of PMP22 gene.

Nueva variante asociada a enfermedad de Niemann-Pick tipo C: manifestaciones neurológicas y caracterización bioquímica, molecular y celular / New variant associated with Niemann-Pick disease type C: Neurological manifestations and biochemical, molecular, and cellular characterisation

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Mutación del gen MMADHC de la cobalamina D con comienzo en el adulto: a propósito de 2 casos potencialmente tratables / Mutation of the MMADHC gene in adult-onset cobalamin D deficiency: A report of 2 potentially treatable cases

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Misdiagnosis and diagnostic delay in non-paraneoplastic sensory neuronopathies / Erro e atraso diagnóstico nas neuronopatias sensitivas não paraneoplásicas

ABSTRACT Sensory neuronopathies (SN) are a group of peripheral nerve disorders characterized by multifocal non-length-dependent sensory deficits and sensory ataxia. Its recognition is essential not only for proper management but also to guide the etiological investigation. The uncommon SN clinical picture and its rarity set the conditions for the misdiagnosis and the diagnostic delay, especially in non-paraneoplastic SN. Therefore, our objectives were to characterize the diagnostic odyssey for non-paraneoplastic SN patients, as well as to identify possible associated factors. Methods We consecutively enrolled 48 non-paraneoplastic SN patients followed in a tertiary neuromuscular clinic at the University of Campinas (Brazil). All patients were instructed to retrieve their previous medical records, and we collected the data regarding demographics, disease onset, previous incorrect diagnoses made and the recommended treatments. Results There were 34 women, with a mean age at the diagnosis of 45.9 ± 12.2 years, and 28/48 (58%) of the patients were idiopathic. Negative sensory symptoms were the heralding symptoms in 25/48 (52%); these were asymmetric in 36/48 (75%) and followed a chronic course in 35/48 (73%). On average, it took 5.4 ± 5.3 years for SN to be diagnosed; patients had an average of 3.4 ± 1.5 incorrect diagnoses. A disease onset before the age of 40 was associated to shorter diagnosis delay (3.7 ± 3.4 vs. 7.8 ± 6.7 years, p = 0.01). Conclusions These results suggest that diagnostic delay and misdiagnosis are frequent in non-paraneoplastic SN patients. As in other rare conditions, increased awareness in all the healthcare system levels is paramount to ensure accurate diagnosis and to improve care of these patients.

RESUMO As neuronopatias sensitivas (NS) representam um grupo de doenças caracterizadas por ataxia sensitiva e déficits sensitivos multifocais e não-comprimento dependentes. O seu reconhecimento é fundamental para o tratamento apropriado e para a investigação de doenças associadas. O quadro clínico pouco frequente aliado à baixa prevalência, especialmente das formas não-paraneoplásicas (NSnp), colaboram para o atraso e erro no diagnóstico. Os objetivos desse trabalho são descrever a odisseia diagnóstica dos pacientes com NSnp e tentar identificar possíveis fatores associados. Métodos Foram incluídos consecutivamente 48 pacientes com NSnp acompanhados no ambulatório de doenças neuromusculares da Universidade Estadual de Campinas (Brasil). Dados demográficos e sobre o início da NS (incluindo diagnósticos que lhes foram dados e tratamentos prescritos) foram coletados. Resultados Na coorte descrita havia 34 mulheres e a idade ao diagnóstico era de 45,9 ± 12,2 anos. Os sintomas inaugurais eram sensitivos deficitários em 25/48 (52%) dos pacientes, sendo assimétricos em 36/48 (75%) e de evolução crônica em 35/48 (73%). Para 28/48 (58%) dos pacientes a NS era idiopática. Em média, os pacientes com NSnp tiveram um atraso diagnóstico de 5,4 ± 5,3 anos com uma média de 3,4 ± 1,5 diagnósticos incorretos. Pacientes com início antes dos 40 anos tiveram diagnóstico mais precoce que aqueles com início tardio (3,7 ± 3,4 vs. 7,8 ± 6,7 anos, p = 0,01). Conclusão Os dados ora apresentados sugerem que o erro e o atraso diagnóstico são frequentes e impactam os pacientes com NS. A importância do diagnóstico das NS deve ser constante em todos os níveis do sistema de saúde para o diagnóstico correto e a consequente melhora no cuidado a esses pacientes.

Intoxicació per liti en pediatria. Importància de sospitar vies d'absorció de tòxics inusuals / Intoxicación por litio en pediatría. Importancia de las vías inusuales de absorción / Lithium poisoning in children. The importance of suspecting unusual paths for absorbing toxics

Introducció: La intoxicació per liti en pediatria és infreqüent i pot arribar a provocar greus complicacions. Observació clínica: Exposem el cas d'un nen de 35 mesos que presenta somnolència, marxa atàxica i vòmits. En l'exploració física destaca tendència a la son i marxa atàxica, i en l'otoscòpia esquerra s'observen abundants secrecions que dificulten la visualització del timpà. Es realitza tomografia axial computada cranial, que confirma la presència al conducte auditiu extern esquerre d'un cos estrany esfèric d'uns 6 mm de diàmetre i densitat metàl·lica. El cos estrany s'extreu sota anestèsia, i es constata que és una pila de botó amb signes de degradació. La litèmia confirma nivells elevats (0,2 mmol/L). Després de l'extracció del cos estrany, el pacient presenta una evolució favorable, amb remissió de la simptomatologia ad integrum. Comentaris: Davant de la clínica neurològica tòrpida no es pot obviar la possibilitat d'una intoxicació. El nostre cas clínic exemplifica aquest tipus de patologia, tenint en compte que es tracta d'una intoxicació infreqüent, tant pel tipus de tòxic, com per la via d'absorció, la localització i el temps d'evolució

Introducción: La intoxicación por litio en pediatría es infrecuente y puede llegar a producir graves complicaciones. Observación clínica: Exponemos el caso de un niño de 35 meses que presenta somnolencia, marcha atáxica y vómitos. En la exploración física destaca tendencia al sueño y marcha atáxica, y en la otoscopia izquierda se observan abundantes secreciones que dificultan la visualización del tímpano. Se realiza tomografía axial computerizada craneal, que confirma la presencia en el conducto auditivo externo izquierdo de un cuerpo extraño esférico de unos 6 mm de diámetro y densidad metálica. El cuerpo extraño se extrae bajo anestesia, y se constata que es una pila de botón con signos de degradación. La litemia confirma niveles elevados (0,2 mmol/L). Tras la extracción del cuerpo extraño, el paciente presenta una evolución favorable, con remisión de la sintomatología ad integrum. Comentarios: Ante la clínica neurológica tórpida, no se puede obviar la posibilidad de una intoxicación. Nuestro caso ejemplifica este tipo de patología, teniendo en cuenta que se trata de una intoxicación infrecuente, tanto por el tipo de tóxico, como por la localización y el tiempo de evolución

Introduction: Lithium poisoning in children is rare and can result in severe toxicity. Clinical observation: We report the case of a 35-month-old child who presented with drowsiness, unstable gait, and vomiting. Physical examination revealed somnolence and ataxia. A left otoscopy examination revealed abundant fluid in the ear canal and poor visualization of the tympanic membrane. Cranial computerized tomography reported the presence of a 6 mm round foreign body of metal density lodged in the left external auditory canal. A lithium button cell battery with signs of degradation was extracted. Laboratory evaluation showed elevated lithemia (0.2 mmol/L). Following the extraction of the foreign body, the patient showed progressive improvement, with eventual complete resolution of all signs and symptoms of lithium poisoning. Comments: Lithium poisoning should be considered in the differential diagnosis of sudden onset of non-specific neurological abnormalities. Our case exemplifies the rarity of this type of poisoning, considering the toxin, the absorption pathway, the location of the source of the poison, and the time of evolution

Malformación cavernomatosa cerebral en mujer presentándose con hemicorea: respuesta al haloperidol / Cerebral cavernous malformation in a woman presenting with hemichorea: Response to haloperidol

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Cerebellar ataxia as presenting feature of hypothyroidism

SUMMARY Symptoms and signs of the hypothyroidism vary in relation to the magnitude and acuteness of the thyroid hormone deficiency. The usual clinical features are constipation, fatigue, cold intolerance and weight gain. Rarely it can present with neurologic problems like reversible cerebellar ataxia, dementia, peripheral neuropathy, psychosis and coma. Hypothyroidism should be suspected in all cases of ataxia, as it is easily treatable. A 40 year-old male presented with the history facial puffiness, hoarseness of voice and gait-ataxia. Investigations revealed frank primary hypothyroidism. Anti-TPO antibody was positive. Thyroxine was started and patient improved completely within eight weeks. Hypothyroidism can present with ataxia as presenting feature. Hypothyroidism should be considered in all cases of cerebellar ataxia as it is a reversible cause of ataxia.

Marcha estepante de origen postural en niña de 10 años / Steppage gait in a 10 year-old girl

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El espectro clínico de las demencias frontotemporales: un caso de demencia rápidamente progresiva / The clinical spectrum of frontotemporal dementia: a case of rapidly progressive dementia

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Malformación de Dandy-Walker de diagnóstico tardío revelada por hipertensión intracraneal / Late diagnosis of Dandy-Walker’s malformation revealed by intracranial hypertension

La malformación de Dandy-Walker se ha descrito clásicamente por la triada de dilatación quística del cuarto ventrículo, hipoplasia del vermis cerebeloso e hidrocefalia. Los síntomas suelen aparecer en la infancia precoz. La presentación en la edad adulta es extremadamente rara, aunque puede ocurrir de forma espontánea o tras un traumatismo craneal. Caso clínico. Varón de 24 años que acude a urgencias por un cuadro compatible con hipertensión intracraneal. El TAC craneal reveló una malformación de Dandy-Walker. Comentario y Conclusiones. Aproximadamente el 80% de los pacientes con esta malformación se presentan durante le primer año de vida, principalmente con marcrocrania secundaria a la hidrocefalia. Por el contrario, en la edad adulta suelen presentarse con síntomas de disfunción de estructuras posteriores dando lugar a nistagmus, alteración de la marcha y ataxia, aunque también podrían presentar síntomas de hipertensión intracraneal...

Síntomas y síndromes de difícil clasificación en una serie ambulatoria de 5.398 pacientes neurológicos diagnosticados según la CIE-10 / Difficult-to-classify symptoms and syndromes in a series of 5398 neurological outpatients diagnosed according to ICD-10 criteria

Introducción. La patología ambulatoria supone un gran porcentaje de la actividad clínica neurológica. Hay numerosos estudios sobre sus características epidemiológicas y de gestión, pero pocas veces se ha analizado en detalle el contenido de las consultas. Objetivo. Realizar un análisis detallado de diagnósticos estandarizados según la Clasificación Internacional de las Enfermedades, décima revisión (CIE-10), en una extensa serie ambulatoria y valorar su repercusión en la actividad clínica. Pacientes y métodos. Se incluyeron los casos nuevos consecutivos vistos en una consulta de neurología ambulatoria general a lo largo de seis años incluidos en una base de datos. Se clasificaron retrospectivamente según la CIE-10. Se analizaron las características clínicas de los principales grupos en que el diagnóstico fue inespecífico desde el punto de vista etiopatogénico. Resultados. De los 5.398 pacientes incluidos, un 37,5% tuvo un diagnóstico inespecífico. Los grupos de diagnóstico inespecífico con mayor número de casos fueron: mareos (n = 214), parestesias (n = 160), síncope/colapso (n = 144), ataxia de la marcha (n = 136), trastorno de la marcha (n = 105), cefalea no especificada (n = 91), dolor en un miembro (n = 84), pérdida de memoria (n = 83), vértigo inespecífico (n = 76) y alteraciones cognitivas inespecíficas (n = 57). Conclusiones. En la patología neurológica ambulatoria es frecuente hallar casos en que el diagnóstico específico es difícil. Cuadros clínicos como mareos, inestabilidad o trastornos de la marcha carecen a menudo de criterios precisos para un diagnóstico concreto. Una aproximación a diagnósticos determinados a través de consensos de expertos podría ser útil en varios de estos síndromes (AU)

Introduction. Outpatient pathology accounts for a large percentage of neurological clinical activity. A number of studies have been conducted on its epidemiological characteristics and management, but the content of the visits has rarely been analysed in detail. Aims. To carry out a detailed analysis of standardised diagnoses according to the 10th revised edition of the International Classification of Diseases (ICD-10), in a long ambulatory series and to evaluate their repercussion on clinical activity. Patients and methods. The sample included the new consecutive cases seen in a general outpatients’ neurological clinic over a period of six years included in a database. They were classified retrospectively according to the ICD-10. An analysis was performed of the clinical features of the main groups in which the diagnosis was unspecific from the etiopathogenic point of view. Results. Of the 5398 patients, 37.5% had an unspecific diagnosis. The unspecific diagnosis groups with the highest number of cases were: dizziness (n = 214), paraesthesias (n = 160), syncope/fainting (n = 144), gait ataxia (n = 136), gait disorders (n = 105), non-specified headache (n = 91), pain in one limb (n = 84), loss of memory (n = 83), unspecific vertigo (n = 76) and unspecific cognitive disorders (n = 57). Conclusions. In outpatient neurological pathology, it is not uncommon to come across cases in which it is difficult to reach the specific diagnosis. Clinical symptoms such as dizziness, instability or gait disorders often lack precise criteria with which to make a particular diagnosis. An approximation to certain diagnoses by means of the agreement of experts could be useful in several of these syndromes (AU)

Doctor, me caigo / Doctor, I’m falling

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Hiponatremias recurrentes como inicio de un quiste de la bolsa de Rathke / No disponible

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Assessing a Dysplastic Cerebellar Gangliocytoma (Lhermitte-Duclos Disease) with 7T MR Imaging

Lhermitte-Duclos disease (LDD; dysplastic cerebellar gangliocytoma) is a rare hamartomatous lesion of the cerebellar cortex and this was first described in 1920. LDD is considered to be part of the autosomal-dominant phacomatosis and cancer syndrome Cowden disease (CS). We examined the brain of a 46-year-old man, who displayed the manifestations of CS, with 7 Tesla (T) and 1.5T MRI and 1.5T MR spectroscopy (1H-MRS). We discuss the possible benefits of employing ultrahigh-field MRI for making the diagnosis of this rare lesion.

Dos casos de enfermedad de Wernicke / Two cases of Wernicke’s disease

Presentamos el caso de 2 varones, uno de ellos no bebedor de alcohol y en situación de huelga de hambre desde 50 días antes, que ingresan con disartria, inestabilidad para la marcha, desorientación temporoespacial, oftalmoplejía y ataxia. Ante el diagnóstico de sospecha de encefalopatía de Wernicke, se inició en ambos casos tratamiento con tiamina intramuscular y luego por vía oral, con rápida desaparición de los síntomas. La resonancia magnética permitió constatar en ambos casos lesiones bilaterales y simétricas alrededor del acueducto de Silvio y en la región periventricular de ambos tálamos (AU)

We describe the cases of two men, one of whom was a non-alcoholic 50-year-old man who had been on hunger strike for 50 days and who was admitted to hospital with dysarthria, unstable gait, disorientation, ophthalmoplegia and ataxia.The suspected diagnosis was Wernicke’s encephalopathy and treatment consisted of intramuscular thiamine shots followed by oral administration of the same drug, which produced rapid symptom resolution. In both patients, magnetic resonance imaging showed bilateral and symmetrical injuries around Silvio’s aqueduct and in the periventricular region of both thalami (AU)

Patrón electromiográfico en enfermos y portadores asintomáticos de la mutación SCA2 / Electromyographic pattern in patients and asymptomatic carriers of the SCA2 mutation

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Síndrome opsoclono-mioclono-ataxia: dos casos anatomoclínicos / Opspclonus. Myoclonuz-ataxia syndrome: Two anatomo-clinical case reports

Introducción. El síndrome opsoclono-mioclono-ataxia (SOMA) se caracteriza por el desarrollo agudo o subagudode movimientos oculares caóticos y mioclono difuso. En algunas ocasiones, asocia ataxia y encefalopatía. En el adulto existen múltiples etiologías, y hay que tener siempre en cuenta el posible origen paraneoplásico. Casos clínicos. Presentamos dos casos de SOMA de origen paraneoplásico con estudio post mortem. En el primer caso, el síndrome se asoció a un carcinomade células pequeñas de pulmón, y en el segundo paciente a un linfoma digestivo. Los estudios de neuroimagen no mostraron alteraciones en ninguno de los dos casos. No se descubrió en nuestros casos ninguno de los anticuerpos asociados con relativa frecuencia a este síndrome. En ambos se pautó tratamiento inmunomodulador; únicamente el paciente con linfoma mejoró inicialmente con el tratamiento antineoplásico. En el estudio anatomopatológico se observaron alteraciones en el tronco del encéfalo, y en el segundo paciente también en el cerebelo. Conclusión. Se trata de una entidad rara, en la que hay que pensar para lograr un diagnóstico correcto, búsqueda del tumor primario y su tratamiento precoz, con el fin de producir mejoría e inclusoremisión del cuadro neurológico. Los hallazgos anatomopatológicos no son patognomónicos, pero sí típicos de este síndrome

Introduction. Opsoclonus-myoclonus-ataxia syndrome (OMAS) is characterised by the acute or subacute development of chaotic eye movements and diffuse myoclonus. On some occasions it is associated with ataxia and encephalopathy. In adults there are multiple causations and a possible paraneoplastic origin must always be taken into account. Case reports. Wereport two cases of OMAS of a paraneoplastic origin with a post mortem study. In the first case, the syndrome was associated to a small-cell carcinoma in the lungs, and in the second patient it was associated to a digestive lymphoma. Neuroimaging studies did not reveal any kind of alterations in either of the two cases. In our cases, none of the antibodies that are relativelyfrequently associated to this syndrome were found. In both of them, an immunomodulator treatment regimen was established; only the patient with the lymphoma showed an initial improvement with antineoplastic therapy. In the pathological study, alterations were observed in the brain stem, and in the second patient alterations were also found in the cerebellum. Conclusions. This is a rare condition that obliges the specialist to think in order to reach a correct diagnosis, and to search forthe primary tumour and establish early treatment in order to bring about an improvement and even the remission of the neurological signs and symptoms. The pathological findings are not pathognomonic, but they are typical of this syndrome