Tetanus is a life-threatening and fatal disease that can be prevented by vaccination. The diagnosis of tetanus is based solely on medical history and clinical symptoms and is very prone to misdiagnosis, undertreatment, and delayed treatment. We reported a deaf and mute patient with tetanus with low back pain, bilateral knee pain, and abdominal distension and constipation as the first symptoms. The patient visited the department of orthopedic pain management with low back pain, bilateral knee pain and abdominal distension and constipation as the chief complaint. During treatment, he was found to have symptoms such as fatigue, coughing with yellow sputum, neck stiffness and discomfort, bilateral temporomandibular joint pain and difficulty in opening the mouth gradually developed after a history of contaminated wound trauma, and thoracic muscle spasm, abdominal muscle tension and neck muscle spasm detected by physical examination, then he was diagnosed with tetanus and transferred to the neuro-ICU department for antitoxin treatment of tetanus and other symptomatic treatments, and discharged after 22-day treatment. Our case report and literature review suggest that to properly prevent and treat tetanus to reduce the risk of tetanus mortality, clinicians should strengthen the propaganda of preventing tetanus by preventive vaccination and timely vaccination after a contaminated traumatic wound, and pay attention to improve their capabilities of identifying, diagnosing and managing tetanus to reduce the possibility of misdiagnosis, and to timely deliver effective treatment after making a correct diagnosis.
Neutral lipid storage disease with myopathy (NLSDM) has obscure onset and nonspecific clinical symptoms. Due to different clinical manifestations, the patients with NLSDM may be seen in neurology, cardiovascular disease and other departments, which may easily lead to missed diagnosis and misdiagnosis. The definitive diagnosis depends on genetic detection, but most patients delay treatment because they cannot be diagnosed in time. The peripheral blood leukocytes of such patients have typical morphological characteristics, which can prompt clinicians to improve genetic testing in time to confirm the diagnosis.
To investigate the morphological characteristics of peripheral blood cells in NLSDM patients.
3 NLSDM patients admitted to Peking University First Hospital from June to August 2021 were selected as the subjects, the peripheral blood of the patients was collected to prepare blood smears, and the morphological characteristics of blood cells were observed by Wright-Giemsa staining, neutrophil alkaline phosphatase (NAP) staining, myeloperoxidase (MPO) staining and periodic acid-schiff reaction (PAS) .
Wright-Giemsa staining: several circular vacuoles of different sizes can be seen in the cytoplasm of neutrophils, eosinophils, basophils, and monocytes; NAP: the neutrophil cytoplasm of NLSDM patients was negative, which was significantly different from normal and infected patients, the positive rate and integral value of infected patients were significantly increased; MPO: patients with NLSDM were positive which were similar to healthy individual but weaker than infected patients (the large positive particles covered the nucleus, resulting in unclear nuclear structure) . PAS: there was no significant difference in the positive degree of NLSDM patients, healthy individual and infected patients.
Vacuoles of different sizes can be seen in the cytoplasm of various leukocytes in the peripheral blood of NLSDM patients, while neutrophil vacuoles are different from the toxic changes during infection, which can be preliminarily identified by NAP staining. Such morphological abnormalities are characteristic changes of NLSDM.
Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant genetic disorder characterized by mental retardation, broad thumbs, and hooked nose and so on. RSTS can cause multiple organ hypoplasia and multiple system hypoplasia (such as endocrine system, digestive system, urinary system, etc.) , and even involve the skin (such as pilomatrixomas, hirsutism, etc.) . Moreover, it has been recently reported to be associated with increased risk of cancer. However, relevant research about RSTS is still very limited. By use of clinical characteristics and genetic testing, only some cases can be diagnosed, and the diagnosis for many other cases additionally requires an in-depth analysis of etiology and pathogenesis of RSTS. This paper reports a suspected RSTS patient treated in the Affiliated Hospital of Guilin Medical University. Whole exome sequencing showed that the patient has a mutation in the CREBBP gene: c.3832G>A (p.Glu1278Lys) , but her parents do not have, indicating that it is a new mutation. By the analysis of the genetic testing result with clinical characteristics, the patient was diagnosed with RSTS. It is very difficult to make a diagnosis of RSTS. By providing a detailed description of clinical features of RSTS, this report is conducive to the study of genotype-phenotype correlation of RSTS, and to clinical diagnosis and treatment of RSTS.
