Case report: Clinical, imaging, and genetic characteristics of type B niemann pick disease combined with segawa syndrome diagnosed via dual gene sequencing.

Niemann Pick disease B (NPB) often presents with hepatosplenomegaly and lung pathological changes, but it usually does not present with central nervous system symptoms. This report presents the unique case of a 21-year-old woman with a 10-year history of hard skin and hepatosplenomegaly. Genetic sequencing revealed NPB and also suggested Segawa syndrome. Although symptomatic supportive treatments were administered in an attempt to improve muscle tone and treat the skin sclerosis, their efficacy was not satisfactory, and the patient refused further treatment. This case provides several noteworthy findings. First, although NPB and Segawa syndrome are rare, both are autosomal recessive inherited diseases that share common clinical symptoms and imaging manifestations. Second, when NPB and Segawa syndrome are highly suspected, screening for tyrosine hydroxylase (TH) and sphingomyelin phosphodiesterase-1 (SMPD1) gene mutations is critical to determine an accurate diagnosis. Finally, early diagnosis and comprehensive therapies are crucial for improving the prognosis of patients with NPB and Segawa syndrome.

Cervical clear cell carcinoma: Case report and literature review.

RATIONALE: Clear cell carcinoma (CCC) is a highly invasive malignant tumor. CCCs of the female reproductive system occur mostly in the endometrium and ovaries and rarely in the cervix. So, it is difficult to diagnose cervical clear cell carcinoma (CCAC) on imaging. This report helps to further deepen our understanding of CCAC. PATIENT CONCERNS: A 39-year-old female patient presented with vaginal discharge with no obvious cause, elevated levels of carcinoembryonic antigen (CEA), CA125, CA153, and squamous cell carcinoma antigen (SCC), and underwent ultrasonography (US) CT and MRI examination in our hospital, which showed a mass in the cervix of the uterus, considered of cervical squamous carcinoma. DIAGNOSES: The cervix biopsy guided by vaginoscope biopsy and immunohistochemistry confirmed CCAC, combined Magnetic Resonance Imaging examination, CCAC with pelvic lymph node metastasis was considered. INTERVENTIONS AND OUTCOMES: The patient refused further treatment and was discharged from hospital. LESSONS: CCAC exhibited no specific symptoms, and is slightly different from cervical squamous carcinoma in image features, mainly relying on immunohistochemistry for diagnosis. The reported case raised awareness of CCAC.

Wandering small intestinal stromal tumor: A case report.

BACKGROUND: The occurrence of gastrointestinal stromal tumors (GISTs) in the small intestine is rare, and a case of wandering small intestinal stromal tumor has been rarely reported to date. Dissemination of this case can help inform future diagnosis and effective treatment. CASE SUMMARY: A 68-year-old patient presented to us with tarry stools. Computed tomography showed a mobile tumor moving widely within the abdominal cavity. As the laboratory data showed a low range of red blood cells and an immediate surgery was not indicated, we performed digital subtraction angiography and embolization to achieve hemostasis. Surgical resection was performed after the patient's condition improved. The tumor was successfully removed laparoscopically. Histological examination revealed submucosal GIST with infarction, which was of intermediate-risk, with mitotic count < 1 per 10 high-power field. Immunohistochemical studies revealed the following: CD117+, Dog1+, CD34+, SMA+, S100-, CK-, Des-, SOX-11-, STAT6-, Ki67 Hotspots 10%+. The patient was ultimately diagnosed with wandering small intestinal stromal tumor. CONCLUSION: When a highly vascularized tumor is clinically encountered in the small intestine, the possibility of stromal tumors should be considered. However, when the tumor cannot be visualized at its original location, the possibility of tumor migration is considered.

The upper eyelid levator weakening procedure for the correction of severe cicatricial entropion caused by trachoma.

BACKGROUND: Trachoma-induced upper eyelid cicatricial entropion (UCE) is a common and challenging eyelid disease. Surgeons have developed various surgical techniques to address UCE in the world. However, there are few reports about surgery for Chinese patients. Our study aims to evaluate the esthetic and functional outcomes of correction of trachoma-induced UCE using upper eyelid levator weakening combined with tarsotomy and an anterior lamella recession procedure in China. METHODS: A retrospective non-comparative study was performed in the Ophthalmology Department of Second Affiliated Hospital of Guangzhou University of Chinese Medicine from January 2017 to December 2019. Thirty-six patients (56 eyelids) with severe UCE caused by trachoma, defined as shortening and retraction of the posterior lamella, were collected. Upper eyelid levator weakening combined with tarsotomy and an anterior lamella recession procedure was done on all patients. The mean follow-up time was 11.6±2.71 months (range, 6-24 months). RESULTS: Among the patients, 48 eyelids (85.7%) achieved complete success. Recurrence was observed in 4 eyelids (7.1%). No other severe complications occurred. CONCLUSIONS: This case series showed that upper eyelid levator weakening combined with tarsotomy and an anterior lamella recession procedure is a safe and effective treatment for severe trachoma-induced UCE in Chinese patients.