Patients Over 60 Years of Age Have Poor Prognosis in Facial Nerve Decompression Surgery with Preserved Ossicular Chain.

OBJECTIVE: We report our retrospective study of the recovery rate of auditory ossicles preserved facial nerve decompression surgery via the transmastoid approach in cases of both an electroneurography score of < 10% and a Yanagihara score of ≤8 in Bell's palsy and Ramsay Hunt syndrome. MATERIALS AND METHODS: We retrospectively reviewed 47 patients who we were able to follow-up for more than 6 months following the onset of palsy. The recovery rate was defined by the Japan Society for Facial Nerve Research or the Yanagihara score. RESULTS: Twelve months after palsy onset, the recovery rate was 48.8% (20/41) for all patients, 65.2% (15/23) for patients with Bell's palsy, and 27.8% (5/18) for patients with Ramsay Hunt syndrome. Comparing the clinical efficacy of surgical treatment at 12 months after palsy onset, we observed a statistically significant effect of age. Comparing the Yanagihara scores of patients aged < 60 years with those of patients aged ≥60 years revealed that patients aged ≥60 years had significant poor prognosis, particularly in patients with Ramsay Hunt syndrome, which showed a very low recovery rate (14.3%). We also analyzed six other factors, but none showed statistical significance. CONCLUSION: The clinical efficacy of surgical treatment of Ramsay Hunt syndrome was inferior to that of Bell's palsy, which is consistent with previous reports. There was a statistically significant difference in the Yanagihara score between patients aged < 60 years and those aged ≥60 years. Particularly, patients with Ramsay Hunt syndrome aged ≥60 years have a very low recovery rate.

Ramsay Hunt Syndrome with Multiple Cranial Neuropathy in an Human Immunodeficiency Virus (HIV) Patient.

BACKGROUND Ramsay Hunt syndrome is a rare otologic complication resulting from varicella zoster virus reactivation that can present with a myriad of clinical presentations. Most common being triad of ear pain, vesicles at auricle, and ear canal with same side facial palsy. CASE REPORT We report a case of a 29-year-old male with a human immunodeficiency virus (HIV) infection who presented with left facial palsy, vesicles, pain in the left ear, dysphagia, dizziness, and headache resulting from multiple cranial nerves involvement such as cranial nerve V, VII, VIII, IX, and X. CONCLUSIONS This case report raises awareness among general practitioners to investigate for Ramsay Hunt syndrome in HIV patients presenting with ear pain with a thorough neurological exam and emphasize on the interplay of different specialties in managing these patients.

Prognostic factors of Bell's palsy and Ramsay Hunt syndrome.

The aim of this study was to compare clinical characteristics, electroneurography (ENoG) results, and functional outcomes of patients with Bell's palsy (BP) and Ramsay Hunt syndrome (RHS).Around 57 patients with BP and 23 patients with RHS were enrolled in this study from January 2010 and September 2015. Both clinical characteristics and ENoG results were recorded at hospital admission. The evaluations of functional outcomes were conducted with House-Brackmann (H-B) grading system at 6-month follow-up.There were no significant differences in age, gender proportion, initial H-B grades, time before commencement of treatment and the presence of comorbid disease in 2 groups. However, the final H-B grades at 6-month follow-up were significantly better in BP patients than RHS patients. The results of ENoG showed that degeneration index (DI) was significantly higher in the RHS group than the BP group. But no significant difference was found in the value of prolonged latency time (PLT) between the 2 groups. In multivariate analysis, age and ENoG DI were independently associated with functional outcome of recovery in the BP group (OR 0.167, 95% CI 0.038-0.622, P = 0.009 and OR 0.289 95% CI 0.107-0.998, P = 0.050, respectively). However, in the RHS group, only ENoG DI was related to the final H-B grades (OR 0.067, 95% CI 0.005-0.882, P = 0.040). Spearman's rank correlation analysis showed that higher age and ENoG DI were related to poorer prognosis in 2 groups (P < 0.05). PLT was related to functional outcomes only in the BP group (rs = 0.460, P < 0.001). The receiver operating characteristic (ROC) of ENoG DI analysis revealed that the cutoff value was 67.0% for BP prognosis and 64.5% for RHS prognosis. What's more, patients with hypertension or diabetes mellitus had both higher final H-B grade and ENoG DI than those without the same comorbidity.Patients with RHS had poorer prognosis than those with BP. Some factors including age, ENoG DI, and the presence of disease influenced recovery from BP and RHS. The present study demonstrated that BP patients with ENoG DI < 67.0% and RHS patients with ENoG DI < 65.5% had a greater opportunity for recovery within half a year.

Neurosyphilis as a great imitator: a case report.

BACKGROUND: Neurosyphilis is defined as any involvement of the central nervous system by the bacterium Treponema pallidum. Movement disorders as manifestations of syphilis have been reported quite rarely. CASE PRESENTATION: We report a case of a 42-year-old Russian man living in Estonia with rapidly progressive dementia and movement disorders manifesting as myoclonus, cerebellar ataxia and parkinsonism. The mini mental state examination score was 12/30. After excluding different neurodegenerative causes, further diagnostic testing was consistent with neurosyphilis. Treatment with penicillin was started and 6 months later his mini mental state examination score was 25/30 and he had no myoclonus, parkinsonism or cerebellar dysfunction. CONCLUSION: Since syphilis is easily diagnosed and treatable, it should be considered and tested in patients with cognitive impairment and movement disorders.

A rare case of Ramsay Hunt syndrome following temporomandibular joint surgery.

Surgical approaches to the temporomandibular joint (TMJ) have been designed specifically to minimize injury to the temporal branch of the facial nerve. In spite of this, facial nerve dysfunction occurs in 1-32% of patients undergoing TMJ surgery. Ramsay Hunt syndrome is characterized by peripheral facial paralysis that often involves other cranial nerves, mostly cranial nerve VIII. The pathology is attributed to the reactivation of latent varicella zoster virus in the geniculate ganglion. The diagnosis is based mostly on history and physical findings. Surgical procedures have been known to reactivate varicella zoster virus, but Ramsay Hunt syndrome subsequent to TMJ surgery has not been described yet. This report describes a case of Ramsay Hunt syndrome associated with TMJ surgery. Because of the relatively high incidence of facial nerve dysfunction associated with TMJ surgery, patients with varicella zoster virus reactivation may initially be misdiagnosed with iatrogenic facial palsy, or vice versa.

Sobre el famoso «triángulo» de Mollaret / Regarding the famous triangle of Guillain-Mollaret

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Ramsay Hunt syndrome type II.

A 57-year-old man developed 3 days of left facial pain and swelling with left-sided hearing loss followed by a painful, unilateral, erythematous, and vesicular rash on the left anterior two-thirds of the tongue, external auditory canal, lip, and face typical of varicella-zoster virus reactivation (figure). Reactivation in the geniculate ganglion or facial nerve is uncommon and typically causes tongue and auricular lesions or facial palsy and was described by Hunt in 1907.(1) The patient received IV acyclovir and oral prednisone with rapid improvement in pain and resolution of lesions and improvement of hearing over 1 month.

Hipomielinización con atrofia de ganglios basales y de cerebelo. Aportación de dos nuevos casos a una entidad de descripción reciente / Hypomyelination with atrophy of the basal ganglia and cerebellum. Contribution of two new cases to a recently reported entity

Introducción. La hipomielinización con atrofia de ganglios basales y de cerebelo (H-ABC) es una rara entidad descrita recientemente. Se presentan dos nuevos casos pertenecientes a una misma familia. Casos clínicos. Caso 1: niño de 17 meses con retraso grave en todas las áreas, ausencia de lenguaje y de contacto visual. En la exploración destacaba una microcefalia con tetraparesia espástica. En la resonancia magnética cerebral se apreciaba atrofia cerebelosa de predominio vermiano con pérdida de volumen de ambos núcleos del putamen y la cabeza del caudado, y patrón de hipomielinización de la sustancia blanca. En la electromiografía se objetivó un patrón de polineuropatía crónica de predominio motor. Presentó un descenso de los valores de ácido homovalínico y de ácido 5-hidroxindolacético. El tratamiento con levodopa/carbidopa no fue efectivo. Caso 2: niña de 11 meses, hermana del caso anterior. Presentaba un retraso grave en todas las áreas y en la exploración clínica se detectó una microcefalia con tetraparesia espástica. La resonancia magnética cerebral mostró hallazgos superponibles a los del hermano, con hipomielinización, atrofia cerebelosa y afectación putaminal y de ambos caudados; en la electromiografía, hallazgos compatibles con polineuropatía motora de carácter desmielinizante. Presentó un descenso de los valores de ácido homovalínico y ácido 5-hidroxindolacético en el líquido cefalorraquídeo. El tratamiento con levodopa/carbidopa resultó ineficaz. Conclusiones. Estos dos nuevos casos ayudan a caracterizar mejor esta entidad y refuerzan la hipótesis del origen genético del síndrome, dado que se trata de dos casos pertenecientes a una misma familia (AU)

Introduction. Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare condition that has only recently been reported. Here we present two new cases belonging to the same family. Case reports. Case 1: 17-month-old boy with severe underdevelopment in all areas, absence of language and eye contact. The examination revealed microcephaly with spastic tetraparesis. A magnetic resonance imaging scan showed predominantly vermian atrophy of the cerebellum with loss of volume of both nuclei of the putamen and the head of the caudate, and a pattern of hypomyelination of the white matter. Electromyography recording highlighted the presence of a predominantly motor pattern of chronic polyneuropathy. Homovallinic acid and 5-hydroxyindoleacetic acid values were lower than usual. Treatment with levodopa/carbidopa was not effective. Case 2: 11-month-old girl, the sister of the boy in the previous case. The patient presented severe underdevelopment in all areas and microcephaly with spastic tetraparesis was detected in the clinical examination. Magnetic resonance imaging of the head showed findings that could be superimposed upon those of the brother, with hypomyelination, cerebellar atrophy and involvement of the putamen and both caudates; electromyography findings were consistent with motor polyneuropathy of a demyelinating nature. Homovallinic acid and 5-hydroxyindoleacetic acid values in cerebrospinal fluid were lower than usual. Treatment with levodopa/carbidopa was ineffective. Conclusions. These two new cases help characterise this condition better and reinforce the hypothesis of the genetic origin of the syndrome, given that the two cases occurred in the same family (AU)

Trastornos congénitos de la glucosilación. Estudio de 2 pacientes / Congenital glycosylation disorders: A study of two patients

Antecedentes: Los trastornos congénitos de la glucosilación constituyen un grupo de situaciones originadas por un defecto en la síntesis de las glucoproteínas. Sus manifestaciones pueden afectar a diversos órganos. Objetivos: Dar a conocer dos nuevos pacientes afectados de esta patología para contribuir a difundir el conocimiento de esta entidad. Métodos: Presentamos 2 pacientes con las manifestaciones clínicas, radiológicas, analíticas y genéticas compatibles con CD. Conclusiones: Los trastornos de la glucosilación constituyen un grupo de situaciones que se deben tener en cuenta en el diagnóstico de un paciente con un cuadro neurológico de origen inexplicable, en particular si asocia alteraciones hepáticas o de la coagulación(AU)

Background: Congenital glycosylation disorders (CGDs) are a group of disorders caused by a defect in glycoprotein synthesis. Clinical manifestations may affect to different organs. Aims: To describe two new patients cases with a CGD in order to make paediatricians aware of this disorder. Clinical cases: Two new cases of different age and gender are presented, showing clinical manifestations, and radiological and laboratory findings compatible with CGD. One of the cases was followed up for several years. Conclusions: Glycosylation disorders are a group of conditions to bear in mind when considering the diagnosis of a patient with neurological symptoms of unexplained origin, particularly in those cases that include a delay in psychomotor activity, low muscle tone, epilepsy, and hepatic or coagulation disorders, as well as in patients with cerebellar or olivopontocerebellar atrophy(AU)

Clinical, genetic, and therapeutic diversity in 2 patients with severe mevalonate kinase deficiency.

Mevalonic aciduria (MA) represents the severest form of mevalonate kinase deficiency due to recessively inherited, loss-of-function MVK mutations. MA is an early-onset disorder characterized by a marked failure to thrive, diverse neurologic symptoms, dysmorphic features, and recurrent febrile episodes. However, significant clinical differences have been reported in the few cases published to date. Here we describe 2 unrelated Spanish patients with MA, emphasizing the clinical heterogeneity observed. One patient presented with the severe classic MA phenotype due to the homozygous p.Ile-268-Thr MVK genotype, with a poor response to conventional treatments. However, the anti-interleukin 1 agent anakinra in this patient resulted in improvement in many clinical and laboratory parameters. The second patient presented with an atypical milder phenotype because of an older age at disease onset, mild neurologic symptoms, absence of febrile episodes and dysmorphic features, and moderate-to-good response to conventional treatments. The novel p.Arg-241-Cys MVK mutation, associated with the already known p.Ser-135-Leu mutation, detected in this patient expands the genetic diversity of mevalonate kinase deficiency. This atypical presentation of MA suggests that it should be included in the differential diagnosis of unclassified patients with psychomotor retardation, failure to thrive or ataxia, even in the absence of febrile episodes.

Early-onset cerebellar atrophy associated with mutation in the CACNA1A gene.

Mutations in the CACNA1A gene were described in familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6. Familial hemiplegic migraine and episodic ataxia type 2 are caused by point mutations in the CACNA1A gene, and spinocerebellar ataxia type 6 develops as a result of a CAG triple expansion in exon 1 of the gene. Phenotypic variability and clinical overlap are well recognized. We describe a 3-year-old child with clinical and radiologic signs of early-onset cerebellar atrophy. The family history was significant for migraine, and in some members of the family, a diagnosis of hemiplegic migraine was established. The combination of cerebellar atrophy in our patient and the family history suggested involvement of the CACNA1A gene. The sequence analysis of genomic DNA from the proband identified heterozygosity for a mutation (Thr666Met) in the CACNA1A gene. Subsequently, his father, who was mildly affected, and two other relatives were demonstrated to carry the same mutation. Therefore, CACNA1A gene mutations should be considered in the differential diagnosis of congenital cerebellar atrophy.

Diffuse multicystic encephalomalacia in a preterm baby due to homozygous methylenetetrahydrofolate reductase 677 C-->T mutation.

Methylenetetrahydrofolate reductase catalyzes the formation of 5-methyltetrahydrofolate from 5,10-methylentetrahydrofolate and produces folate for the methylation of homocysteine to methionine. Due to insufficient conversion of homocysteine to methionine, plasma homocysteine levels increase in methylenetetrahydrofolate reductase deficiency. Homocysteine is an amino acid that contains a neurotoxic sulfur molecule and can induce neuronal apoptosis. Methylenetetrahydrofolate reductase deficiency is 1 of the etiological factors that causes neurological symptoms and signs in the newborn and childhood period. Here, we report a premature baby with prenatal onset diffuse multicystic encephalomalacia and cerebellar atrophy due to homozygous methylenetetrahydrofolate reductase mutation.

Auto-immune cerebellar ataxia with anti-GAD antibodies accompanied by de novo late-onset type 1 diabetes mellitus.

UNLABELLED: Autoantibodies to glutamic acid decarboxylase (GAD-Ab) have been described in stiff-man syndrome, type 1 diabetes mellitus and in patients with auto-immune polyglandular failure. In addition, a few patients with progressive cerebellar ataxia show high titres of GAD-Ab, suggesting an auto-immune origin. AIM: This is a report of a patient presenting with cerebellar ataxia associated to late-onset type 1 diabetes and polyendocrine auto-immunity. CASE REPORT: A 47-year-old woman with a past medical history of vitiligo and Graves' disease presented with late-onset type 1 diabetes. For two years, she had complained of progressive gait instability and oscillopsia. Neurological examination revealed multidirectional, horizontal rotatory fixation and gaze nystagmus, gait ataxia and mild limb ataxia in the left upper arm. METHODS: Imaging studies, electrophysiological studies, routine biological and detailed immunological screening as well as a study of cerebrospinal fluid (CSF) were performed. RESULTS: Brain magnetic resonance imaging showed cerebellar atrophy. Routine biological screening was normal. Immunological screening showed positivity for numerous antibodies (Ab), including GAD-Ab, thyroid peroxidase-Ab, thyroglobulin-Ab, 21-hydroxylase (adrenal)-Ab, gastric parietal cell-Ab and GM1 ganglioside IgG-Ab. CSF was normal, with no oligoclonal bands detected. GAD-Ab were positive in CSF, suggesting an auto-immune origin of the cerebellar ataxia. Treatment with intravenous immunoglobulin led to a slight improvement in nystagmus and gait instability. CONCLUSION: Auto-immune cerebellar ataxia related to GAD-Ab is a rare condition that typically affects women with late-onset type 1 diabetes or other auto-immune disorders, including auto-immune polyendocrinopathy. Immunomodulatory treatment may be effective.

Late-onset tacrolimus-associated cerebellar atrophia in a heart transplant recipient.

Tacrolimus is a macrolide immunosuppressant frequently used after solid-organ transplantation. Moderate and severe neurologic side effects have been reported in patients receiving tacrolimus. Cerebral neurotoxicity is a rare but fatal calcineurin inhibitor-related complication, especially in kidney and liver transplant recipients. Often a reduction or a change in immunosuppressive regimen is the only means of clinical management. Herein we report a case of a 31-year-old man who developed cerebellar atrophia while under immunosuppressive therapy 9 years after heart transplantation. His neurologic constitution ameliorated after an immunosuppressant switch from tacrolimus to sirolimus.

Symptomatic myoclonus.

A huge number of neurological disorders are associated with myoclonus. This paper describes these disorders whose diagnosis partly relies on the presence of myoclonus. The diagnostic approach is related to certain clinical features of myoclonus, which, after their integration in the clinical context, help orientate towards diagnosis. Myoclonus is frequent during dementia. Although its presence is well-known to take part in the diagnosis of Creutzfeldt-Jakob disease (CJD), myoclonus can also be present to a significant degree in Alzheimer's disease and Lewy body dementia (LBD), which raises a diagnostic issue. Both its clinical and electrophysiological features may help differential diagnosis, given that myoclonus with fast-evolving dementia and focal neurological signs should favor the diagnosis of CJD. Myoclonus in a context of progressive ataxia suggests one clinical form of the Ramsay-Hunt syndrome (progressive myoclonic ataxia, PMA), whose most frequent causes are: coeliac disease, mitochondriopathies, some spino-cerebellar degenerations, and some late metabolic disorders. In addition to ataxia and myoclonus, the presence of opsoclonus directs diagnosis toward the opsoclonus-myoclonus syndrome (OMS), whose origin, in adult, is idiopathic or paraneoplastic. Palatal tremor (myoclonus) with ataxia may represent either a sporadic pattern, which often reflects the evolution of degenerative or lesional disorders, or a familial pattern in some degenerative affections or metabolic diseases. Of more recent knowledge is the association of progressive ataxia, myoclonus, and renal failure, which corresponds to a recessive autosomic disease. In a context of encephalopathy, myoclonus is frequent in metabolic or hydro-electrolytic disorders, and in brain anoxia. One should distinguish these various forms of myoclonus which may occur in the acute post-anoxic phase, from those occurring as sequels at a later stage, i.e. the Lance and Adams syndrome whose clinical aspects are also multiple. Myoclonus is less frequent during toxic or drug exposures. Irrespective of its acute or insidious onset, Hashimoto's encephalopathy is accompanied by myoclonus and tremor. Myoclonus may also be present during encephalic and/or spinal infectious disorders. Myoclonus with focal neurological signs may be observed in thalamic lesions, responsible for unilateral asterixis or unilateral myoclonus superimposed on dystonic posture. Segmental spinal myoclonus or propriospinal myoclonus may be associated with several spinal-cord disorders. Myoclonus associated with peripheral nerve lesions is exceptional or even questionable for some of these.

Relative frequencies of CAG expansions in spinocerebellar ataxia and dentatorubropallidoluysian atrophy in 116 Italian families.

Two hundred and forty-eight patients from 116 Italian families with dominant ataxia were studied for CAG expansion within SCA1, 2, 3, 6, 7 (spinocerebellar ataxia) and DRPLA (dentatorubropallidoluysian atrophy) genes. Fifty-six percent of the families originated from Southern, 19% from Central and 25% from Northern Italy. SCA2 was the commonest mutation, accounting for 47% of the families, followed by SCA1 (24%), SCA6 (2%), SCA7 (2%) and DRPLA (1%). No SCA3 family was found. Twenty-four percent of the families carried a still unidentified mutation. When occurrence of mutations was evaluated according to the geographic origin, SCA1 was the commonest in Northern (72%), whereas SCA2 was prevalent (63%) in Southern Italy. The number of CAG repeats in SCA1 normal alleles was higher in Northern than in Central-Southern Italy.