A Cross-Sectional Analysis of Migraine-Related Disability in CADASIL: A Mayo Clinic Cohort Objectives: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is inherited microangiopathy characterized by recurrent subcortical infarcts. A majority of those with CADASIL report coexistent migraine with aura. The authors aim to quantitatively describe migraine-related disability within a CADASIL cohort. Methods: A cross-sectional analysis was performed in a cohort of CADASIL. The Migraine Disability Assessment (MIDAS) quantified migraine-related disability. Further metrics obtained include first and last migraine, aura semiology, and therapeutic measures. Results: Twenty-four individuals were included [63% (15/24) female individuals; mean age, 56 y; range, 34 to 81 y]. Fifty-four percent (13/24) reported migraine, whereas 46% (11/24) reporting varying degrees of migraine-related disability. MIDAS Questionnaire scores appeared bimodal: 58% (14/24) scored 0 to 5, 7% (1/24) scored 6 to 10, 7% (1/24) scored 11 to 20 and 33% (8/24) scored over 20. Severe disability was associated with the multiplicity of aura semiologies and poor response to pharmacologic prophylaxis. Conclusions: A bimodal distribution of migraine-related disability was observed. A third of individuals had a severe disability and appeared medically refractory to medical migraine prophylactic measures. This study may serve as a reference point for future trials quantitatively gauging response of novel migraine treatment strategies within this unique population. |
Bronzino’s Claw Hand Background: Lancet recently published an article concerning a work of art by Bronzino (1503-1572). Apart from incorrectly identifying Bronzino as a Renaissance artist, Vein and Mouret (2018) make an extraordinary medical claim based on their observation of the artistic image of the left hand of the sitter in Bronzino’s Mannerist Portrait of Bartolomeo Panciatichi (1540s). In short, seemingly without even a basic understanding of the tenets of Mannerist painting or the specifics of Bronzino’s enormous oeuvre, Vein and Mouret (2018) claim that Bronzino’s subject, Bartolomeo Panciatichi (1507-1582) was suffering from “a unilateral ulnar pathology.” Methods: The author analyses the image of Bartolomeo Panciatichi from an art historical perspective involving both formal analysis and stylistic analysis. Results: The specific portrayal of Panciatichi’s “claw hand” is more correctly a product of creative genius, designed to elicit an emotional response of “disquiet” from the informed spectator. Conclusion: There is in fact no portrayal of a unilateral ulnar pathology. If it were, then it means that many of Bronzino’s subjects suffered from exactly the same condition. |
Relationship Between Sleep Characteristics and Sudden Unexplained Death Risk in Epilepsy Background: Sleep disorders and disturbances are generally underestimated in patients with epilepsy. The aim of this study is to determine the frequency of sleep disturbances and the comorbidity of sleep disorders in people with epilepsy without any complaints about sleep and their relation of sudden unexplained death in epilepsy (SUDEP) risk. Methods: Sleep complaints and the presence of sleep disorders were assessed with 4 questionnaires in 139 patients with epilepsy. Subjective sleep features were evaluated with Pittsburgh Sleep Quality Index (PSQI), the Epworth Sleepiness Scale (ESS), the Berlin Questionnaire for sleep apnea, and restless legs syndrome with International Restless Legs Syndrome Study Group (IRLSSG) severity scale. The presence of rapid eye movement/nonrapid eye movement parasomnia was asked to the patients and their relatives who share the same house. The patients’ SUDEP-7 scores were also determined and associations with sleep problems were investigated statistically. Results: Ninety-two patients with focal and 47 patients with generalized epilepsy were evaluated after their consent. The daily sleep quality was poor in 34 (24.5%) patients with PSQI. Daily sleepiness was present in 7 (5%) patients with ESS. Twenty-five patients (18%) had severe sleep apnea risk with the Berlin Questionnaire. Mild or severe RLS was detected in 24 patients (17.2%). There were no significant differences between focal or generalized epilepsy groups’ scores. No statistically significant relationship was identified between SUDEP-7 scores and sleep quality or sleep-related disorders. Conclusion: Our results emphasized a remarkable magnitude of the comorbidity of sleep disorders in patients with epilepsy, even for those who do not have complaints about sleep. As SUDEP cases are frequently seen during sleep, it is important to evaluate sleep in patients with epilepsy. |
Intraosseous Administration of Hypertonic Saline in Acute Brain-Injured Patients: A Prospective Case Series and Literature Review Background: Central venous catheters are often used to administer hypertonic saline (HTS) but might be associated with serious complications. Intraosseous (IO) access is an alternative method of medication and fluid delivery which is not associated with life-threatening complications and can be inserted faster than CVCs. Methods: A prospective case series was conducted on critically ill neurological patients that did not have central venous access, and for whom 3% HTS was indicated. Nonverbal indicators of pain were measured using the critical care pain observation tool. The pain score and serum sodium levels were collected at baseline, at 2, 6, 12, 18, and 24 hours after administration of 3% HTS using IO access. The area surrounding the IO insertion site was monitored for needle placement, extravasation, and tissue damage. Results: Five patients were enrolled. Three had an IO placed in the proximal humerus and 2 in the proximal tibia. Most patients did not have nonverbal indicators of pain during insertion and initial bolus. Serum sodium levels increased appropriately, as determined by the care providers. There were no cases of device dislodgement, extravasation, infection, soft tissue injury, or other local complications. Conclusions: In this prospective case series, IO administration of 3% HTS was feasible, well-tolerated on the basis of nonverbal indicators of pain in the majority of patients and resulted in an appropriate rise in serum sodium levels. IO fills a niche among vascular access options for HTS, in emergent neurological situations when central venous access is not readily available or peripheral intravenous access is difficult to obtain. |
Tenecteplase Averting Mechanical Thrombectomy in Emergent Large Vessel Occlusion Introduction: Tenecteplase has recently been studied as an alternative thrombolytic agent in acute stroke, with a possible superior effect in achieving reperfusion of large intracranial vessels. Case Report: A 90-year-old female patient was admitted to our stroke unit because of acute onset of dysarthria, left-sided neglect, and hemiparesis. Brain computed tomography (CT) coupled with CT angiography and CT perfusion (postprocessed with the use of RAPID software) demonstrated right proximal middle cerebral artery occlusion with a large penumbra/small ischemic core pattern. The patient was subsequently treated with bolus tenecteplase infusion (0.25 mg/kg). Mechanical thrombectomy was abandoned because the patient has rapidly improved. The patient was discharged to her own home 4 days later with no neurological deficit and functionally independent (modified Rankin scale of 0). Conclusion: This case exemplifies the potential of tenecteplase in achieving swift reperfusion in patients with large vessel occlusion associated with a substantial mismatch penumbral pattern. |
Successful Thrombolysis in the Setting of Marfan Syndrome and Chronic Aortic Dissection Introduction: Thrombolysis is the standard of care in acute ischemic stroke. It is usually contraindicated in patients with aortic dissection. Case Report: We report a case of Marfan syndrome and chronic aortic dissection presenting with acute ischemic stroke treated with thrombolysis. Conclusion: To our knowledge, this is the first case of Marfan syndrome with chronic aortic dissection undergoing thrombolysis for acute ischemic stroke with a near-complete recovery of neurological deficit and favorable long-term outcome. |
Papilledema and Peripheral Neuropathies Introduction: Papilledema is a common sign in ophthalmology and is typically associated with increased intracranial pressure (ICP) in neurological diseases. Since the beginning of the 20th century, some cases of papilledema have been reported in association with acute or chronic inflammatory neuropathies. Case Report: We describe a 42-year-old man with acute-onset inflammatory polyradiculoneuropathy and bilateral papilledema. Conclusions: Based on a personal case report and from an extensive review of the medical literature, we identify 2 distinct patterns. First, radiculoneuropathy may be a consequence of intracranial pressure (peripheral nerve involvement corresponding to a “false localizing sign”). Second, papilledema may occur after the onset of inflammatory neuropathy. For such cases, the pathophysiological mechanism remains unknown (eg, reactional inflammatory processes or actions of unknown autoantibodies) and requires further elucidation. |
Leukoencephalopathy With Predominant Infratentorial Involvement Caused by a Novel ABCD1 Mutation: Does the Spinocerebellar Variant of Adrenoleukodystrophy Exist? Introduction: X-linked adrenoleukodystrophy (X-ALD) encompasses several clinical and neuroimaging phenotypes, including cerebral X-ALD, the most common phenotype in children, and adrenomyeloneuropathy, the most common phenotype in adults. A spinocerebellar variant of X-ALD has been described in individuals from the Far East, but the criteria for its diagnosis are unclear. Case Report: A 35-year-old man from Albania was assessed because of a familial, slowly progressive spastic-ataxic gait associated with neurogenic bladder, sexual dysfunctions, and manic-like behavior. There was no definite clinical feature that suggested cerebellar involvement (eg, cerebellar limb ataxia, nystagmus, and dysarthria). A few months earlier, he had received a diagnosis of Addison disease. Brain magnetic resonance imaging showed a leukoencephalopathy with predominant cerebellum and brainstem involvement, and 18FDG-PET revealed marked cerebellar hypometabolism. The diagnosis of X-ALD was made because we found an increase of very long chain fatty acids, and a new ABCD1 mutation (c.1627C>T, p.Pro543Ser). Conclusions: X-ALD should be included in the differential diagnosis of adult leukoencephalopathies with predominant involvement of infratentorial structures, that is, the cerebellum and brainstem. From a classification perspective, our patient (of white origin), like others (all of Asian origin), should be considered as suffering from a variant of adrenomyeloneuropathy rather than from spinocerebellar X-ALD. Actually, the term “spinocerebellar” or similar ones, such as “cerebello-brainstem dominant form,” should be limited to those exceptional cases, in which both the clinical and neuroimaging findings point exclusively (or at least predominantly) to the involvement of infratentorial structures. |
Medicine by Alexandros G. Sfakianakis,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,00302841026182,00306932607174,alsfakia@gmail.com,
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Medicine by Alexandros G. Sfakianakis,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,00302841026182,00306932607174,alsfakia@gmail.com,
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00306932607174,
alsfakia@gmail.com,
Anapafseos 5 Agios Nikolaos 72100 Crete Greece,
Medicine by Alexandros G. Sfakianakis,
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