The clinical characteristics of familial cluster headache

BACKGROUND: A positive family history predisposes to the development of cluster headache. The distinct characteristics of familial cluster headache have yet to be confirmed, however, evidence suggests a younger age of onset and higher proportion of females in this subgroup. OBJECTIVES: To assess the rate and mode of inheritance of familial cluster headache in a tertiary referral centre for headache. To describe the clinical features of familial cluster headache. METHODS: A retrospective study conducted between 2007 and 2017. Cluster headache was confirmed in probands and affected relatives. Differences in demographics, clinical characteristics, and response-to-treatment in familial cluster headache were delineated through multivariate analysis using a control cohort of 597 patients with sporadic cluster headache. RESULTS: Familial cluster headache was confirmed in 48 (7.44%) patients and predominantly reflected an autosomal dominant mode of inheritance with reduced penetrance. Familial cases were more likely to report nasal blockage (OR 4.06, 95% CI; 2.600-6.494, p < 0.001) during an attack and a higher rate of concurrent short-lasting unilateral neuralgiform headache with conjunctival injection and tearing (OR 3.76, 95% CI; 1.572-9.953, p = 0.004). CONCLUSION: These findings add to evidence suggesting a genetic component to cluster headache. Here, we demonstrated prominent nasal blockage, and a higher occurrence of concomitant short-lasting unilateral neuralgiform headache with conjunctival injection and tearing in this subgroup, further delineating the phenotype

Caractérisation des céphalées dans les malformations d’Arnold-Chiari de type 1

Une malformation d’Arnold Chiari de type 1 (CM1) est une affection fréquente, le plus souvent congénitale. Il s’agit d’une ptose de plus de 5mm des amygdales cérébelleuses dans le foramen magnum. La prise en charge est chirurgicale par décompression de la fosse postérieure. La céphalée est la plainte principale des patients et est classiquement occipitale et exacerbée par la toux et/ou manœuvres de Valsalva. L’IHS a établi des critères de céphalée « attribuée au Chiari ». Néanmoins, les céphalées des patients présentant un CM1 sont souvent polymorphes. L’imputabilité du CM1 dans les céphalées moins typiques est difficile à établir. En l’absence de recommandations pour poser l’indication chirurgicale, des outils pronostics sont nécessaires pour stratifier la probabilité d’amélioration postopératoire. Récemment, un score pronostic prédictif, le Chiari Severity Index (CSI), a été mis au point, gradué de 1 à 3. L’objectif principal de ce travail rétrospectif était d’évaluer les facteurs cliniques et radiologiques prédictifs d’amélioration postopératoire des céphalées des patients CM1. Les objectifs secondaires étaient de classer les céphalées selon les critères de l’IHS, de comparer les différents groupes, de mesurer le CSI sur notre cohorte et enfin d’évaluer la qualité de vie en postopératoire. 49 patients consécutifs, présentant un CM1 et céphalalgiques avant chirurgie, ont été inclus au CHU de Rouen entre le 01/01/2011 et le 31/06/2016. Des questionnaires téléphoniques standardisés sur les caractéristiques avant et après chirurgie des céphalées, ont été menés. Une analyse des IRM pré et postopératoires a été réalisé en aveugle par un neuroradiologue. Une bonne évolution est définie par une amélioration de plus de 50% de la fréquence des crises de céphalée. Les facteurs prédictifs de régression des céphalées en postopératoire, en analyse multivariée, étaient le déclenchement des céphalées à la toux (p= 0.003), la sévérité de la crise (p = 0.05), la localisation occipitale (p= 0.05) et le grand nombre de jours de crise par mois (p=0.04). Le facteur le plus pertinent était une courte durée de crise (p = 0.001, Odd Ratio = 15). Ces facteurs font partie des critères de l’IHS des céphalées attribuées au Chiari Aucun facteur prédictif radiologique n’a été mis en évidence. Vingt et un patients (42.8%) ont été classés « Céphalées attribuées au Chiari » selon l’IHS et s’amélioraient significativement plus que les autres types (p Notre étude confirme la pertinence des critères IHS pour l’identification des céphalées attribuées au Chiari. Leur régression en postopératoire dans 95% des cas prouve l’imputabilité du CM1 dans le développement de ces céphalées. Nous proposons l’utilisation systématique d’un questionnaire intégrant ces critères IHS en préopératoire. Ce travail suggère un lien entre le CM1 et les céphalées primaires chroniques. Elles s’amélioraient dans 46.6 % des cas après intervention. Une étude prospective est nécessaire pour confirmer ce lien

Indomethacin-Responsive Paroxysmal Hemicrania in an Elderly Man: An Unusual Presentation of Pituitary Apoplexy

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Leucoencephalopathy following abuse of sniffed heroin

International audienceA 29-year-old man was admitted for acute cognitive impairment. Three weeks earlier, he had been admitted for coma due to sniffed heroin abuse responsive to naloxone infusion. At admission, the patient presented with apraxia, severe memory impairment and anosognosia. Brain MRI revealed symmetric hyperintensities of supratentorial white matter, sparing brainstem and cerebellum, on FLAIR and B1000 sequences. Four months later, repeated neuropsychological assessment revealed dramatic improvement of global cognitive functions. Toxic leucoencephalopathy excluding the cerebellum and brainstem is a rare complication of heroin abuse, and seems to concern especially patients that use heroin by sniff or injection. In these patients, cognitive troubles are predominant, prognosis seems better and infratentorial brain structures can be spared. In conclusion, our observation emphasizes that heroin-induced encephalopathy can have a favourable outcome and that imaging and clinical patterns can indicate the mode of drug administration

Four Cases of Parkinson Disease Diagnosed During the Postpartum Period

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Is pituitary MRI screening necessary in cluster headache?

Objective To determine the prevalence and clinical predictors of pituitary adenomas in cluster headache patients, in order to determine the necessity of performing dedicated pituitary magnetic resonance imaging in patients with cluster headache. Methods A retrospective study was conducted of all consecutive patients diagnosed with cluster headache and with available brain magnetic resonance imaging between 2007 and 2017 in a tertiary headache center. Data including demographics, attack characteristics, response to treatments, results of neuroimaging, and routine pituitary function tests were recorded. Results Seven hundred and eighteen cluster headache patients attended the headache clinic; 643 underwent a standard magnetic resonance imaging scan, of whom 376 also underwent dedicated pituitary magnetic resonance imaging. Pituitary adenomas occurred in 17 of 376 patients (4.52%). Non-functioning microadenomas (n = 14) were the most common abnormality reported. Two patients, one of whom lacked the symptoms of pituitary disease, required treatment for their pituitary lesion. No clinical predictors of those adenomas were identified after multivariate analysis using random forests. Systematic pituitary magnetic resonance imaging scanning did not benefit even a single patient in the entire cohort. Conclusion The prevalence of pituitary adenomas in cluster headache is similar to that reported in the general population, thereby precluding an over-representation of pituitary lesions in cluster headache. We conclude that the diagnostic assessment of cluster headache patients should not include specific pituitary screening. Only patients with standard brain magnetic resonance imaging findings or symptoms suggestive of a pituitary disorder require brain magnetic resonance imaging with dedicated pituitary views

Predictive Factors of Headache Resolution After Chiari Type 1 Malformation Surgery

International audienceBackgroundHeadache is the main and often isolated symptom of patients with Chiari type 1 malformation (CM1). Classically described as occipital and exacerbated by cough, headaches may be poorly characterized, making it difficult to establish CM1 as the underlying cause. Current guidelines for surgical posterior fossa decompression are undefined. The challenge is to distinguish headaches related to CM1 from headaches coincidentally coexisting with CM1. We aimed to determine predictive factors of headache resolution after surgery and applied to our cohort the Chiari Severity Index, a recently developed predictive prognostic score.MethodsThis retrospective study enrolled 49 patients with CM1 and preoperative headache. Standardized telephone interviews regarding headaches before and after surgery were conducted by the same neurologist; magnetic resonance imaging morphometric analyses were performed by an independent neuroradiologist. Headache resolution was defined as ≥50% reduction in frequency of headache days.ResultsPreoperative factors of headache resolution after multivariate analysis were attack duration <5 minutes (P = 0.001), triggering by Valsalva maneuvers (P = 0.003), severe intensity of attack (P = 0.05), occipital location (P = 0.05), and greater number of headache days per month (P = 0.04). These characteristics are part of International Headache Society diagnostic criteria for headache attributed to CM1. No radiologic predictive factor was demonstrated. Postoperative improvement was inversely correlated with Chiari Severity Index.ConclusionsThis study confirms the relevance of International Headache Society criteria to identify headaches related to CM1. We propose their systematic use in a preoperative questionnaire

Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype

International audiencePrimary familial brain calcification (PFBC) is a rare neurogenetic disorder with diverse neuropsychiatric expression. Mutations in four genes cause autosomal dominant PFBC: SLC20A2, XPR1, PDGFB and PDGFRB. Recently, biallelic mutations in the MYORG gene have been reported to cause PFBC with an autosomal recessive pattern of inheritance. We screened MYORG in 29 unrelated probands negatively screened for the autosomal dominant PFBC genes and identified 11 families with a biallelic rare or novel predicted damaging variant. We studied the clinical and radiological features of 16 patients of these 11 families and compared them to that of 102 autosomal dominant PFBC patients carrying a mutation in one of the four known autosomal dominant PFBC genes. We found that MYORG patients exhibited a high clinical penetrance with a median age of onset of 52 years (range: 21–62) with motor impairment at the forefront. In particular, dysarthria was the presenting sign in 11/16 patients. In contrast to patients with autosomal dominant PFBC, 12/15 (80%) symptomatic patients eventually presented at least four of the following five symptoms: dysarthria, cerebellar syndrome, gait disorder of any origin, akinetic-hypertonic syndrome and pyramidal signs. In addition to the most severe clinical pattern, MYORG patients exhibited the most severe pattern of calcifications as compared to the patients from the four autosomal dominant PFBC gene categories. Strikingly, 12/15 presented with brainstem calcifications in addition to extensive calcifications in other brain areas (lenticular nuclei, thalamus, cerebellar hemispheres, vermis, ±cortex). Among them, eight patients exhibited pontine calcifications, which were observed in none of the autosomal dominant PFBC patients and hence appeared to be highly specific. Finally, all patients exhibited cerebellar atrophy with diverse degrees of severity on CT scans. We confirmed the existence of cerebellar atrophy by performing MRI voxel-based morphometry analyses of MYORG patients with autosomal dominant PFBC mutation carriers as a comparison group. Of note, in three families, the father carried small pallido-dentate calcifications while carrying the mutation at the heterozygous state, suggesting a putative phenotypic expression in some heterozygous carriers. In conclusion, we confirm that MYORG is a novel major PFBC causative gene and that the phenotype associated with such mutations may be recognized based on pedigree, clinical and radiological features