Mutation at a new allele of the dysferlin gene causes Miyoshi myopathy: A case report.

Miyoshi myopathy (MM) is a rare autosomal recessive disorder caused by dysferlin (DYSF) gene mutation. Miyoshi myopathy-inducing mutation sites in the DYSF gene have been discovered worldwide. In the present study, a patient with progressive lower extremity weakness is reported, for which MM was diagnosed according to clinical manifestations, muscle biopsy, and immunohistochemistry. In addition, the DYSF gene of the patient and his parents was sequenced and analyzed and two heterozygous mutations of the DYSF gene (c.4756C> T and c.5316dupC) were discovered. The first mutation correlated with MM while the second was a new mutation. The patient was diagnosed with a compound heterozygous mutation. The mutation site is a new member of pathogenic MM gene mutations.

A patient with acute myeloid leukemia presented with a superior sagittal sinus thrombosis as the first manifestation of Trousseau syndrome.

This paper reports a case of Trousseau syndrome with intracranial venous sinus thrombosis as the first manifestation, which is relatively rare in the clinic. A 44-year-old female patient presented with a blurred vision of the visual substance for 2 months, and the condition was aggravated with a headache for 10 days. The final diagnosis was intracranial venous sinus thrombosis and acute myeloid leukemia subtype M2. Anticoagulant + intra-arterial regimen (cytarabine + igdabistar) was given, and the patient's headache and blurred vision were gradually restored. After 2 courses of chemotherapy, acute myeloid leukemia subtype M2 was in complete remission. After 6 months of follow-up, headache and the blurred vision disappeared, leukemia did not recur, limb vascular ultrasound was screened regularly, and no new vascular embolism disease occurred.

A case of varicella zoster encephalitis with glossopharyngeal and vagus nerve injury as primary manifestation combined with medulla lesion.

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.

Ramsay Hunt syndrome with pontine lesion: A case report.

RATIONALE: The coexistence of Ramsay Hunt syndrome (RHS) and varicella-zoster virus (VZV) encephalitis is rare. A patient who developed RHS after being infected with VZV, along with a pontine lesion, is reported in the present study. PATIENT CONCERNS: A 41-year-old male patient presented with his mouth askew for 7 days, and dizziness, accompanied by hearing loss for 3 days. DIAGNOSES: The patient was initially diagnosed with RHS. Brainstem encephalitis was confirmed by lumbar puncture and cerebrospinal fluid. Brain magnetic resonance imaging (MRI) and diffusion-weighted imaging (DWI) revealed how VZV entered the intracranial space along the vestibulocochlear nerve and facial nerve in the acute period. INTERVENTIONS: Intravenous acyclovir, IV, immunoglobulins (IVIg) and methylprednisolone were administered. OUTCOMES: The herpes was cleared up and left facial nerve palsy was improved, but hearing loss in the left ear did not improve. LESSONS: An MRI was necessary for some VZV infections limited to the cranial nerve, although there was no evidence of brain stem injury. DWI provided evidence, showing how VZV entered the brain in the early stage. This allowed the doctor to judge the necessity of a lumbar puncture.