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Objectives Herpes simplex encephalitis (HSE) is one of the most common causes of severe viral encephalitis. The characteristic manifestations of HSE include cerebrospinal fluid with mild cytopenia, dominated by lymphocytes, elevated protein, and normal blood glucose values (3.9–6.1 mmol/L). Although it is not difficult to diagnose classical HSE, diagnosing clinically atypical cases is more difficult. Methods We reviewed the results of next-generation sequencing (NGS) of CSF in a series of patients diagnosed with atypical HSE. Results Four patients lacking classical clinical manifestations of HSE, including no fever, headache, or other typical neurological deficit symptoms, 1–2 × 106 cells/L CSF leucocyte count, and no typical imaging features, were diagnosed with atypical HSE by NGS of CSF. The NGS reads corresponding to herpes simplex virus type 1 ranged from 2 to 13,174. Conclusions Mild HSE may not present with classic frontotemporal lobe syndrome and fever may not be an inevitable symptom in patients with immunosuppression. However, the possibility of HSE should be considered in patients with atypical intracranial infection, and these patients should be tested by NGS.

Varicella zoster virus (VZV) can invade the brainstem or brain via the glossopharyngeal, vagus , or facial nerve, resulting in brainstem inflammation or encephalitis. We report the case of a 66-year-old male patient with a primary manifestation of medulla injury of the glossopharyngeal and vagus nerves, combined with a medulla lesion, who was misdiagnosed with lateral medullary syndrome. Facial nerve injury and earache subsequently occurred and human herpes virus 3 (VZV) was detected by second-generation sequencing of the cerebrospinal fluid. The final diagnosis was varicella zoster encephalitis, which improved after antiviral therapy.

Background Isolated body lateropulsion is a possible predominant manifestation of medulla oblongata infarction, and can occur without vestibular and cerebellar symptoms. However, it is relatively rare and challenging to diagnose. Case presentation A 67-year-old woman was admitted to the Harris International Peace Hospital complaining mainly of instability when standing and walking for the previous 8 hours. Based on the neural localization and multiple head magnetic resonance imaging (MRI) examinations, a diagnosis of cerebral infarction (vertebrobasilar system) was made. Consequently, the patient was managed using therapy aimed at preventing platelet aggregation, lowering plasma lipids, stabilizing plaques, protecting mitochondria, and improving circulation and brain function. The patient’s gait improved and she was discharged after 14 days because she was able to walk unaided. The patient was followed up for 6 months and had no noticeable undesirable side effects or signs of neurological deficits. Conclusion The possibility of lateral medulla oblongata infarction should be considered when patients present with isolated body lateropulsion, without other signs or symptoms of brainstem damage.

We report a family with riboflavin-reactive multiple acyl-CoA dehydrogenase deficiency (RR-MADD) partially caused by a novel mutation in the electron transfer flavoprotein dehydrogenase gene (ETFDH). The RR-MADD family was identified by physical examination, electromyography, and muscle biopsy of the proband. Laboratory examination and electromyography suggested a muscle disease of the lipid storage myopathies. This was confirmed by a muscle biopsy that revealed lipid deposition in the muscle fibers. The proband’s sister previously had a similar disease, so the family underwent genetic testing. This revealed complex heterozygous ETFDH mutations c.389A > T (p. D130V) and c.1123C > A (p. P375T) in the proband and her sister, of which c.1123C > A (p. P375T) is a novel pathogenic mutation. The proband was treated with riboflavin and changes in physical symptoms and laboratory tests were evaluated before and after treatment. The discovery of a novel locus further expands the ETFDH mutation spectrum and suggests that genotyping is vital for early detection of RR-MADD as it can greatly improve the prognosis.