COVID-19-associated acute disseminated encephalomyelitis (ADEM).

A 51-year-old woman with COVID-19 infection developed coma and an impaired oculocephalic response to one side. MRI of the brain demonstrated acute multifocal demyelinating lesions, and CSF testing did not identify a direct cerebral infection. High-dose steroids followed by a course of IVIG was administered, and the patient regained consciousness over the course of several weeks. As more patients reach the weeks after initial infection with COVID-19, acute disseminated encephalomyelitis should be considered a potentially treatable cause of profound encephalopathy or multifocal neurological deficits.

Tumefactive multiple sclerosis: a case report and review of the literature.

Tumefactive multiple sclerosis (TMS) is a rare subset of inflammatory demyelinating disorders that can present with MS symptoms or the clinical or radiographic findings of a space-occupying intracranial lesion. Classically, TMS presents on computed tomography (CT) or magnetic resonance imaging (MRI) with an intracranial mass greater than 2.0 cm with a variable amount of mass effect, edema, and ring or rim enhancement with gadolinium contrast. Unfamiliarity with this condition may lead health care providers to perform unnecessary biopsies or delay proper treatment. We present the case of a patient who came to the emergency room with bilateral internuclear ophthalmoplegia who was later diagnosed as TMS.

Intense pain soon after wrist fracture strongly predicts who will develop complex regional pain syndrome: prospective cohort study.

UNLABELLED: Complex regional pain syndrome (CRPS) is a distressing and difficult-to-treat complication of wrist fracture. Estimates of the incidence of CRPS after wrist fracture vary greatly. It is not currently possible to identify who will go on to develop CRPS after wrist fracture. In this prospective cohort study, a nearly consecutive sample of 1,549 patients presenting with wrist fracture to 1 of 3 hospital-based fracture clinics and managed nonsurgically was assessed within 1 week of fracture and followed up 4 months later. Established criteria were used to diagnose CRPS. The incidence of CRPS in the 4 months after wrist fracture was 3.8% (95% confidence interval = 2.9-4.8%). A prediction model based on 4 clinical assessments (pain, reaction time, dysynchiria, and swelling) discriminated well between patients who would and would not subsequently develop CRPS (c index .99). A simple assessment of pain intensity (0-10 numerical rating scale) provided nearly the same level of discrimination (c index .98). One in 26 patients develops CRPS within 4 months of nonsurgically managed wrist fracture. A pain score of ≥5 in the first week after fracture should be considered a "red flag" for CRPS. PERSPECTIVE: This study shows that excessive baseline pain in the week after wrist fracture greatly elevates the risk of developing CRPS. Clinicians can consider a rating of greater than 5/10 to the question "What is your average pain over the last 2 days?" to be a "red flag" for CRPS.

Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation.

BACKGROUND: The m.3243A>G mutation can cause multisystem medical problems and can affect the autonomic nervous system. OBJECTIVE: To study the frequency and spectrum of autonomic symptoms associated with the m.3243A>G mitochondrial DNA point mutation. Design, Setting, and Patients We studied a cohort of 88 matrilineal relatives from 40 families, including 35 fully symptomatic patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS), 53 carrier relatives, and 16 controls using a questionnaire based on existing standard instruments for the evaluation of autonomic dysfunction. We compared the questionnaire with an expert evaluation. We compared data among the 3 groups using the Mantel-Haenszel chi(2) test to determine the statistical significance of differences between groups. RESULTS: Mutation carriers frequently had symptoms of autonomic dysfunction, specifically gastrointestinal and orthostatic intolerance. CONCLUSIONS: Carriers of the m.3243A>G mutation have frequent autonomic symptoms. The m.3243A>G mutation should be considered as an etiological factor in patients with autonomic dysfunction and a medical or family history suggestive of mitochondrial disease. Because some autonomic symptoms are treatable, early detection and proactive management may mitigate the burden of morbidity.

A novel tRNA(Val) mitochondrial DNA mutation causing MELAS.

Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is the most common mitochondrial disease due to mitochondrial DNA (mtDNA) mutations. At least 15 distinct mtDNA mutations have been associated with MELAS, and about 80% of the cases are caused by the A3243G tRNA(Leu(UUR)) gene mutation. We report here a novel tRNA(Val) mutation in a 37-year-old woman with manifestations of MELAS, and compare her clinicopathological phenotype with other rare cases associated tRNA(Val) mutations.