Temporal muscle thickness and survival in patients with amyotrophic lateral sclerosis.

Temporal muscle thickness (TMT) is a new potential MRI biomarker, which has shown prognostic relevance in neuro-oncology. We aim at investigating the potential prognostic value of TMT in patients with Amyotrophic Lateral Sclerosis (ALS). We retrospectively evaluated 30 ALS patients, whose clinical, Magnetic Resonance Imaging (MRI) and Electrodiagnostic testing (EDX) data were available, in comparison to age-matched 30 healthy subjects. TMT calculated on T1-weighted MR images was significantly lower in ALS patients than in healthy subjects (p < 0.001), correlating with the ALS Functional Rating Scale (FRS) (p:0.018) and compound motor action potential (CMAP) (p:0.012) in the patients group. Multivariate analysis of overall survival (OS) showed that the only parameters that remained significant were TMT (p:0.002, OR 0.45, 95%vCI: 0.28-0.75) and ALS FRS-R (p:0.023, OR: 0.80, 95%CI: 0.67-0.92). TMT seems to be a promising surrogate biomarker of survival and functional status in ALS. Our data deserve further investigations in multicenter and prospective trials.

Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review.

Diagnosis of pediatric steatohepatitis is a challenging issue due to a vast number of established and novel causes. Here, we report a child with Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) presenting with an underrated muscle weakness, exercise intolerance and an atypically severe steatotic liver involvement. A systematic literature review of liver involvement in MADD was performed as well. Our patient is a 11-year-old otherwise healthy, non-obese, male child admitted for some weakness/asthenia, vomiting and recurrent severe hypertransaminasemia (aspartate and alanine aminotransferases up to ×20 times upper limit of normal). Hepatic ultrasound showed a bright liver. MRI detected mild lipid storage of thighs muscles. A liver biopsy showed a micro-macrovacuolar steatohepatitis with minimal fibrosis. Main causes of hypertransaminasemia were ruled out. Serum aminoacids (increased proline), acylcarnitines (increased C4-C18) and a large excretion of urinary glutaric acid, ethylmalonic, butyric, isobutyric, 2-methyl-butyric and isovaleric acids suggested a diagnosis of MADD. Serum acylcarnitines and urinary organic acids fluctuated overtime paralleling serum transaminases during periods of illness/catabolic stress, confirming their recurrent nature. Genetic testing confirmed the diagnosis [homozygous c.1658A > G (p.Tyr553Cys) in exon 12 of the ETFDH gene]. Lipid-restricted diet and riboflavin treatment rapidly ameliorated symptoms, hepatic ultrasonography/enzymes, and metabolic profiles. Literature review (37 retrieved eligible studies, 283 patients) showed that liver is an extramuscular organ rarely involved in late-onset MADD (70 patients), and that amongst 45 patients who had fatty liver only nine had severe presentation. Conclusion: MADD is a disorder with a clinically heterogeneous phenotype. Our study suggests that MADD warrants consideration in the work-up of obesity-unrelated severe steatohepatitis.

Midbrain MRI assessments in progressive supranuclear palsy subtypes.

OBJECTIVES: To explore the role of the available midbrain-based MRI morphometric assessments in (1) differentiating among progressive supranuclear palsy (PSP) subtypes (PSP Richardson's syndrome (PSP-RS), PSP with predominant parkinsonism (PSP-P) and the other variant syndromes of PSP (vPSP)), and (2) supporting the diagnosis of PSP subtypes compared with Parkinson's disease (PD) and healthy controls (HC). METHODS: Seventy-eight patients with PSP (38 PSP-RS, 21 PSP-P and 19 vPSP), 35 PD and 38 HC were included in the present analysis. Available midbrain-based MRI morphometric assessments were calculated for all participants. RESULTS: Current MRI midbrain-based assessments do not display an adequate sensitivity and specificity profile in differentiating PSP subtypes. On the other hand, we confirmed MR Parkinsonism Index (MRPI) and pons area to midbrain area ratio (P/M) have adequate diagnostic value to support PSP-RS clinical diagnosis compared with both PD and HC, but low sensitivity and specificity profile in differentiating PSP-P from PD as well as from HC. The same measures show acceptable sensitivity and specificity profile in supporting clinical diagnosis of vPSP versus HC but not versus PD. Similar findings were detected for the newer MRPI and P/M versions. CONCLUSIONS: Further studies are warranted to identify neuroimaging biomarkers supporting the clinical phenotypic categorisation of patients with PSP. MRPI and P/M have diagnostic value in supporting the clinical diagnosis of PSP-RS. CLASSIFICATION OF EVIDENCE: This study provides class III evidence that available MRI midbrain-based assessments do not have diagnostic value in differentiating the Movement Disorder Society PSP subtypes.

ADAPT with New Catalyst 5 Reperfusion Catheter for Distal M2 Ischemic Stroke: Preliminary Experience.

OBJECTIVE: We sought to assess preliminary technical and clinical outcomes of Catalyst 5 (CAT 5) as front-line aspiration treatment for M2-M3 occlusion in acute ischemic stroke. METHODS: Patients with symptomatic stroke and distal M2 or M3 occlusions were enrolled retrospectively. A direct aspiration first-pass technique was used as the first treatment option for absolute contraindication to intravenous fibrinolytic therapy. Time to recanalization, first attempt recanalization, and number of attempts were recorded. Successful recanalization was defined as a modified thrombolysis in cerebral infarction score ≥2b; incidence of procedure-related complications was recorded. National Institutes of Health Stroke Scale at discharge and modified Rankin Scale score at 90 days were evaluated by a dedicated neurologist. RESULTS: A total of 11 acute occlusions of distal M2-M3 segment were treated with a direct aspiration first-pass technique using CAT 5 (mean age 69.3 years). Tandem occlusion was present in 2 cases. Intracranial preocclusive mean vessel diameter was 1.9 mm. Overall modified thrombolysis in cerebral infarction score ≥2b was obtained in 72.7% of patients with mean time to recanalization of 36.4 minutes and a mean of 1.9 attempts. First-attempt recanalization with CAT 5 was obtained in 54% of patients with a mean time to recanalization of 29.2 minutes. A stent retriever with proximal aspiration was incorporated as a rescue device in 2 cases. Embolization of new territories was reported after CAT 5 aspiration in 1 patient. No intracranial hemorrhage was detected on follow-up computed tomography. The median National Institutes of Health Stroke Scale score at discharge was 3. At 90 days, a modified Rankin Scale score of 0-2 was achieved in 90.9% of patients. CONCLUSIONS: Preliminary experience using CAT 5 in distal occlusions demonstrates that it may be safe and effective in acute stroke treatment.

Arterial Spin Labeling Magnetic Resonance Imaging to Diagnose Contrast-Induced Vasospasm After Intracranial Stent Embolization.

BACKGROUND: Contrast-induced encephalopathy (CIE) is a rare and misdiagnosed complication of intravascular injection of contrast, responsible for arterial vasospasm and neurologic effects. Conventional radiologic findings are not in themselves specific for cerebral vasospasm diagnosis. We present a case in which arterial spin labeling (ASL) perfusion magnetic resonance imaging (MRI) was useful in early diagnosis of CIE. CASE DESCRIPTION: A 56-year-old woman was admitted for elective flow-diverter embolization of a recanalized left supra-ophthalmic internal carotid artery aneurysm; at 4 hours postprocedure, she acutely developed sensitive aphasia and right arm paresis. Although no-contrast computed tomography and MRI with fluid-attenuated inversion recovery and diffusion-weighted imaging sequences did not demonstrate acute ischemic/hemorrhagic cerebral foci or cortical edema, ASL showed decreased cerebral blood flow (CBF) in the insular-temporal-parietal anterior lobe, suspected for hypoperfusion due to vasospasm, which was not confirmed by subsequent emergent digital subtraction angiography. At 16 hours, because of worsening symptoms, patient underwent an additional MRI, which showed slight insular cortical edema on fluid-attenuated inversion recovery and corresponding slight restricted diffusion-weighted imaging with a severe reduction in CBF value; at this time, emergent digital subtraction angiography demonstrated distal arterial vasospasm of left middle cerebral artery, and vasospasm therapy was started. Within 48 hours of symptom onset, the patient gradually improved to a complete neurologic recovery, with normalization of CBF values in the concerning cerebral region. CONCLUSIONS: CIE should always be considered in patients with focal neurologic deficits after iodinate contrast exposure. ASL perfusion MRI with CBF maps could be a promising tool for prompt, early confirmation of underlying vasospasm, as cortical edema and distal vasospasm could not be detected on conventional radiologic imaging.