A 57‐year‐old man who suffered from a headache for 1 year, accompanied by blurred vision for 7 months and numbness in his left face for 1 week was admitted to the Affiliated Hospital of Zunyi Medical University on May 7, 2022. One year ago, the patient had no obvious precipitating factor of paroxysmal stabbing pain in the whole skull with dizziness, which could be relieved by oneself after lasting for 1–2 min each time, with about 20 episodes per day. The cranial magnetic resonance imaging revealed changes in bilateral frontal lobe ischemic foci, bilateral frontal, ethmoid, sphenoid and maxillary sinusitis, and retinal macular degeneration. After hormone shock treatment, the condition improved. He suffered from headaches again with blurred vision in the right eye 7 months ago and was initially diagnosed with multiple sclerosis. He then was discharged after improvement due to hormone shock therapy. Oral hormone therapy was continued outside the hospital, but he stopped it due to drug side effects (details remained unclear). After cutting off, he developed a headache and visited our hospital once more, the relevant tests were performed and the patient was diagnosed with idiopathic hypertrophic pachymeningitis (IHP). The symptoms were slightly abated after hormone therapy. We hope that through this case report, we can deepen the clinicians' understanding of IHP, and improve the diagnosis rate of the disease through relevant examinations in future clinical work, so that patients can receive timely treatment and the mental pressure and economic burden caused by the disease on patients are reduced.
The aim of this article was to analyze the clinical and genetic characteristics of a patient with Huntington's disease and her family. We analyzed the clinical data of a patient with Huntington's disease and her family members in the Department of Neurology of our hospital, drew the genetic pedigree, and used gene fragment analysis to detect and analyze the genes of three people in the family according to the principle of informed consent. The genetic pedigree of the family was consistent with that of autosomal dominant diseases. A total of five people in this family developed the disease, two died, and the main clinical manifestations were dystonia, ataxia, and cognitive impairment. Three people in this family underwent genetic testing, and two exhibited normal genotypes. The cytosine-adenine-guanine trinucleotide (CAG) repeats of the proband were abnormally amplified, and the number of repeats reached 43. The main clinical features of the patient included chronic obscure onset, obvious positive family genetic history, clinical features of involuntary limb movement with cognitive impairment, rapid disease progression, poor treatment effect, and abnormal amplification of CAG repeats as shown through genetic testing. All the above features met the diagnostic criteria of Huntington's disease.
The incidence of incomplete partition Type I inner ear malformation is very low; therefore, bacterial meningitis caused by this malformation is also rare. Here, we report a case of such a patient. This case is a young female patient, who is 7 years old, began to have recurrent headaches, and after 5 years, also began to have chest and back pain. The doctor diagnosed meningitis, and the anti‐infection treatment was effective. She was followed up annually and continued to have outbreaks repeatedly for 17 years, but the cause of repeated infection was not found. After a detailed diagnosis and treatment in our hospital, the patient was finally diagnosed with incomplete partition Type I inner ear malformation, resulting in repeated bacterial meningitis. The patient recovered well after surgical treatment, and the symptoms did not recur after 1‐year follow‐up.
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