Sleep disturbances in myotonic dystrophy type 2.

Sleep disorders in myotonic dystrophy type 1 (DM1) are common and include sleep-disordered breathing, hypersomnia, and fatigue. Little is known regarding the occurrence of sleep disturbance in myotonic dystrophy type 2 (DM2). We hypothesized that DM2 patients may frequently harbor sleep disorders. We reviewed medical records of all genetically confirmed cases of DM2 seen at our sleep center between 1997 and 2010 for demographic, laboratory, overnight oximetry, and polysomnography (PSG) data. Eight patients (5 women, 3 men) with DM2 were identified. Excessive daytime sleepiness was seen in 6 patients (75%), insomnia in 5 (62.5%), and excessive fatigue in 4 (50%). Obstructive sleep apnea was diagnosed in 3 of 5 patients (60%) studied with PSG. Respiratory muscle weakness was present in all 6 patients (100%) who received pulmonary function testing. Four of 8 (50%) met criteria for diagnosis of restless legs syndrome. The clinical spectrum of DM2 may include a wide range of sleep disturbances. Although respiratory muscle weakness was frequent, sustained sleep-related hypoxia suggestive of hypoventilation was not seen in our patients. Further prospective studies are needed to examine the frequency and scope of sleep disturbances in DM2.

Neuralgic Amyotrophy Associated With Hepatitis E Virus Infection: First Case in the United States.

Hepatitis E is an emerging viral infection in developed countries. It can present with multiple extra-hepatic manifestations, including neuralgic amyotrophy. We report a 52-year-old man who presented with neck and shoulder pain followed by orthopnea and left arm weakness. Electrodiagnostic testing showed left phrenic neuropathy and denervation in bilateral C5 and C6 myotomes. He also had elevated liver enzymes, which led to the diagnosis of acute hepatitis E. This is the first case of neuralgic amyotrophy associated with hepatitis E in the United States. Hepatitis E should be considered in patients with neuralgic amyotrophy, particularly men with bilateral symptoms, and if there is unexplained elevation of transaminases. The role of antiviral therapy remains unclear.

Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2.

OBJECTIVES: Although sleep disturbances are common in myotonic dystrophy type 1 (DM1), sleep disturbances in myotonic dystrophy type 2 (DM2) have not been well-characterized. We aimed to determine the frequency of sleep disturbances in DM2. METHODS: We conducted a case-control study of 54 genetically confirmed DM2 subjects and 104 medical controls without DM1 or DM2, and surveyed common sleep disturbances, including symptoms of probable restless legs syndrome (RLS), excessive daytime sleepiness (EDS), sleep quality, fatigue, obstructive sleep apnea (OSA), probable REM sleep behavior disorder (pRBD), and pain. Thirty patients with DM2 and 43 controls responded to the survey. Group comparisons with parametric statistical tests and multiple linear and logistic regression analyses were conducted for the dependent variables of EDS and poor sleep quality. RESULTS: The mean ages of patients with DM2 and controls were 63.8 and 64.5 years, respectively. Significant sleep disturbances in patients with DM2 compared to controls included probable RLS (60.0% vs 14.0%, p < 0.0001), EDS (p < 0.001), sleep quality (p = 0.02), and fatigue (p < 0.0001). EDS and fatigue symptoms were independently associated with DM2 diagnosis (p < 0.01) after controlling for age, sex, RLS, and pain scores. There were no group differences in OSA (p = 0.87) or pRBD (p = 0.12) scores. CONCLUSIONS: RLS, EDS, and fatigue are frequent sleep disturbances in patients with DM2, while OSA and pRBD symptoms are not. EDS was independently associated with DM2 diagnosis, suggesting possible primary CNS hypersomnia mechanisms. Further studies utilizing objective sleep measures are needed to better characterize sleep comorbidities in DM2.

Semiology of the rare seizure subtype piloerection.

OBJECTIVE: To report piloerection and vasomotor instability as a sole manifestation of partial seizures. DESIGN: Case report. SETTING: Inpatient tertiary care center. PATIENT: A 72-year-old man with acute onset of repetitive autonomic events. MAIN OUTCOME MEASURES: Extensive cardiovascular evaluation, electroencephalographic testing, radiology, laboratory assessment, and frequency of clinical events (seizures). RESULTS: We characterize an uncommon manifestation of right temporal lobe partial seizures, initially thought to be cardiovascular in origin, as pilomotor seizures accompanied by other autonomic phenomena. The ictal electroencephalogram recordings established the diagnosis of right temporal lobe seizures, and head magnetic resonance imaging demonstrated right mesial temporal T2 signal change, enhancement, and subsequent atrophy. The underlying etiology was not uncovered despite an extensive laboratory and radiological evaluation. However, given the history and imaging findings, an infectious or secondary immunological etiology was suspected. CONCLUSIONS: Pilomotor events with other transient autonomic features, such as tachycardia and blood pressure fluctuations, may represent localization-related epilepsy. The acute onset of these events accompanied by other autonomic phenomena in the setting of focal magnetic resonance imaging abnormalities within the hippocampal region raises questions concerning pilomotor seizures as well as the differential diagnosis of acute seizure activity in the setting of neuroimaging findings characteristic for limbic encephalitis.

Acute hemorrhagic leukoencephalitis and hypoxic brain injury associated with H1N1 influenza.

OBJECTIVE: To describe the first adult with neurologic complications associated with H1N1 influenza virus infection. DESIGN: Case report. Patient A 40-year-old man with severe H1N1 influenza infection with prolonged hypoxia and critical illness who remained comatose after withdrawal of sedatives and paralytics. INTERVENTIONS: Clinical examination and magnetic resonance imaging. RESULTS: Brain imaging revealed multifocal T2 hyperintense lesions, edema, and hemorrhages consistent with acute hemorrhagic leukoencephalitis (AHL) and restricted diffusion in the basal ganglia consistent with hypoxic brain injury. The patient remained in a severely disabled state following treatment with plasma exchange and high-dose corticosteroids. CONCLUSIONS: This is the first study of neurologic complications associated with H1N1 influenza infection in adults. Severe brain injury can occur by 2 distinct mechanisms: a fulminant autoimmune demyelinating insult (AHL) and hypoxic brain injury. Clinicians should be aware of these potential complications so that appropriate imaging and treatment can be considered.