A posttraumatic pontomedullary rent with good outcome.

Posttraumatic pontomedullary rents have been described mainly as postmortem histopathological findings in patients who died immediately or within the first hours after trauma. To the best of our knowledge, no long-term survivors of this condition have been described, and those surviving initially were always severely impaired. We present the first patient with this condition and with corresponding lesions on imaging who survived longer than 3 months. Moreover, the patient regained almost complete independence 1 year after the trauma. We briefly discuss the proposed mechanisms of this injury. We conclude that this lesion, when incomplete, is not always lethal and can exceptionally have a good clinical outcome. Prevention of respiratory failure is of utmost importance in these patients.

Clinical Heterogeneity in MT-ATP6 Pathogenic Variants: Same Genotype-Different Onset.

Human mitochondrial disease exhibits large variation of clinical phenotypes, even in patients with the same causative gene defect. We illustrate this heterogeneity by confronting clinical and biochemical data of two patients with the uncommon pathogenic homoplasmic NC_012920.1(MT-ATP6):m.9035T>C variant in MT-ATP6. Patient 1 presented as a toddler with severe motor and speech delay and spastic ataxia without extra-neurologic involvement. Patient 2 presented in adolescence with ataxia and ophthalmoplegia without cognitive or motor impairment. Respiratory chain complex activities were normal in cultured skin fibroblasts from both patients when calculated as ratios over citrate synthase activity. Native gels found presence of subcomplexes of complex V in fibroblast and/or skeletal muscle. Bioenergetic measurements in fibroblasts from both patients detected reduced spare respiratory capacities and altered extracellular acidification rates, revealing a switch from mitochondrial respiration to glycolysis to uphold ATP production. Thus, in contrast to the differing disease presentation, biochemical evidence of mitochondrial deficiency turned out quite similar. We conclude that biochemical analysis remains a valuable tool to confirm the genetic diagnosis of mitochondrial disease, especially in patients with new gene variants or atypical clinical presentation.

Diagnostic Challenges and Clinical Characteristics of Hepatitis E Virus-Associated Guillain-Barré Syndrome.

IMPORTANCE: Hepatitis E virus (HEV) recently has been shown to be an antecedent infection in Guillain-Barré syndrome (GBS), but the clinical spectrum of HEV-associated GBS is not yet documented, and diagnosing acute HEV infection can be a challenge. OBJECTIVES: To determine the prevalence of HEV-associated GBS in a Belgian cohort, study the clinical spectrum of HEV-associated GBS, and discuss difficulties in diagnosing acute HEV infection. DESIGN, SETTING, AND PARTICIPANTS: This single-center, retrospective cohort study was conducted between January 1, 2007, and November 1, 2015. All patients with GBS or a GBS variant who presented to the adult neurology department of the University Hospital Leuven were identified via a search of the electronic medical records. Hepatitis E virus IgM and IgG reactivity was determined. In a subgroup, polymerase chain reaction for HEV was performed. MAIN OUTCOMES AND MEASURES: Hepatitis E virus IgM and IgG reactivity. RESULTS: Of 73 eligible patients (mean [SD] age, 52 [18] years; 29 females and 44 males), 6 (8%) showed positive reactivity on IgM assays for HEV, indicating a possible acute HEV infection. Four of the 6 patients (67%) had increased alanine aminotransferase levels of more than 1.5 times the upper limit of normal, while 4 of 22 patients (18%) with increased alanine aminotransferase levels showed positive reactivity on HEV IgM assays. Serum samples of 2 of 6 patients with positive reactivity on HEV IgM assays also revealed positive test results for cytomegalovirus or Epstein-Barr virus, indicating possible cross-reactivity. Thus, 4 patients (6%) in our cohort had probable acute HEV infection. Two of these patients presented with an infrequent GBS variant. CONCLUSIONS AND RELEVANCE: Acute HEV infection was frequently associated with GBS in our cohort. Abnormal alanine aminotransferase levels at admission can indicate the presence of an associated HEV infection. When HEV testing is considered, it is important to test for other infectious agents in parallel, as cross-reactivity can occur. Further studies are required to guide neurologists in their workup of underlying triggers of GBS.

Neurofilament markers for ALS correlate with extent of upper and lower motor neuron disease.

OBJECTIVE: To determine the diagnostic performance and prognostic value of phosphorylated neurofilament heavy chain (pNfH) and neurofilament light chain (NfL) in CSF as possible biomarkers for amyotrophic lateral sclerosis (ALS) at the diagnostic phase. METHODS: We measured CSF pNfH and NfL concentrations in 220 patients with ALS, 316 neurologic disease controls (DC), and 50 genuine disease mimics (DM) to determine and assess the accuracy of the diagnostic cutoff value for pNfH and NfL and to correlate with other clinical parameters. RESULTS: pNfH was most specific for motor neuron disease (specificity 88.2% [confidence interval (CI) 83.0%-92.3%]). pNfH had the best performance to differentially diagnose patients with ALS from DM with a sensitivity of 90.7% (CI 84.9%-94.8%), a specificity of 88.0% (CI 75.7%-95.5%) and a likelihood ratio of 7.6 (CI 3.6-16.0) at a cutoff of 768 pg/mL. CSF pNfH and NfL levels were significantly lower in slow disease progressors, however, with a poor prognostic performance with respect to the disease progression rate. CSF pNfH and NfL levels increased significantly as function of the number of regions with both upper and lower motor involvement. CONCLUSIONS: In particular, CSF pNfH concentrations show an added value as diagnostic biomarkers for ALS, whereas the prognostic value of pNfH and NfL warrants further investigation. Both pNfH and NfL correlated with the extent of motor neuron degeneration. CLASSIFICATION OF EVIDENCE: This study provides Class II evidence that elevated concentrations of CSF pNfH and NfL can accurately identify patients with ALS.