Hepatic perivascular epithelioid cell tumor: A case report

BACKGROUNDPerivascular epithelioid cell tumor (PEComa) is a mesenchymal tumor with histologic and immunophenotypic characteristics of perivascular epithelioid cells, has a low incidence, and can involve multiple organs. PEComa originating in the liver is extremely rare, with most cases being benign, and only a few cases are malignant. Good outcomes are achieved with radical surgical resection, but there is no effective treatment for some large tumors and specific locations that are contraindicated for surgery.CASE SUMMARYA 32-year-old woman was admitted to our hospital with a palpable abdominal mass and progressive deterioration since the previous month. An ultrasound-guided percutaneous liver aspiration biopsy was performed. Postoperative pathological immunohistochemical staining was HMB45, Melan-A, and smooth muscle actin positive. Perivascular epithelioid tumor was diagnosed. The tumor was large and could not be completely resected by surgery. Further digital subtraction angiography revealed a rich tumor blood supply, and interventional embolization followed by surgery was recommended. Finally, the patient underwent transarterial embolization (TAE) combined with sorafenib for four cycles. Angiography reexamination indicated no clear vascular staining of the tumor, and the tumor had shrunk. The patient was followed up for a short period of time, achieved a stable condition, and surgery was recommended.CONCLUSIONAdjuvant combination treatment with TAE and sorafenib is safe and feasible as it shrinks the tumor preoperatively and facilitates surgery.     

Double intussusception in a teenage child with Peutz-Jeghers syndrome: A case report

BACKGROUNDPeutz-Jeghers syndrome (PJS) is a genetic disorder characterized by the development of gastrointestinal hamartomatous polyps and mucocutaneous melanin pigmentation. Patients with PJS are at risk of complications such as intussusception. Intussusception is a condition where one segment of the intestine invaginates into another, causing intestinal obstruction. We report a PJS patient who was diagnosed with double intussusception in a single setting. CASE SUMMARYA 16-year-old teenage male PJS patient presented with a history of colicky abdominal pain, vomiting, blood in stools, loss of appetite, and weight loss. On abdominal examination, a vague mass was palpable over the right upper quadrant. Contrast-enhanced computed tomography (CT) of the abdomen was performed and an intussusception involving the jejunum and rectosigmoid junction was observed. The patient subsequently underwent a laparotomy and intussusception involving the jejunum and another over the ileum was noted intra-operatively. Bowel resection and an endoscopic polypectomy were performed, followed by a primary anastomosis. The patient was discharged well and reviewed again one month later, and was noted to be well.CONCLUSIONPJS patients have a high risk of intussusception and can be diagnosed accurately by endoscopic surveillance or radiologically with abdominal CT or magnetic resonance imaging. The mainstay of treatment is surgical intervention followed by endoscopic surveillance with periodic polypectomy.     

Immunoadsorption therapy for Klinefelter syndrome with antiphospholipid syndrome in a patient: A case report

BACKGROUNDKlinefelter syndrome (KS) is a genetic disease of male sex chromosome malformations that affects sperm production and reduces testosterone production. It has been reported that there is currently more than 10 cases of KS combined with antiphospholipid syndrome.CASE SUMMARYHere, we describe a 31-year-old male patient with chromosome 47, XXY type, who suffered deep vein thrombosis of the lower limbs accompanied by abnormal antiphospholipid antibody, lupus anticoagulant and factor VIII. After treatment with immunoadsorption therapy, glucocorticoids, cyclophosphamide, intravenous immunoglobulin and anticoagulant therapy, the patient showed dramatic symptomatic improvement. During the follow-up, the patient did not develop any new thrombotic events.CONCLUSIONImmunoadsorption combined with glucocorticoid and cyclophosphamide shock comprehensive treatment has achieved significant results for patients with KS combined with antiphospholipid syndrome.     

Posterior reversible encephalopathy syndrome in a patient with metastatic breast cancer: A case report

BACKGROUNDPosterior reversible encephalopathy syndrome (PRES) is a neurotoxic encephalopathic state with clinical symptoms such as headache, altered consciousness, visual disturbances, and seizures. Vasogenic edema occurs predominantly in the posterior occipital and parietal lobes of the brain. PRES is caused by various diseases, and its mechanism remains unclear. However, it can be easily diagnosed based on characteristic lesions on magnetic resonance imaging.CASE SUMMARYA 51-year-old woman with unremarkable past medical history presented with progressively worsening back pain since 2 mo. Physical examinations revealed paralumbar muscle tenderness, a large lesion on the right breast and several mass-like lesions on both breasts. The blood pressure (BP) was elevated (150/90 mmHg), and did not respond to antihypertensive medication. On the seventh day of hospitalization, she exhibited a confused mental status and generalized tonic-clonic seizures. On magnetic resonance imaging, bilateral cortical and subcortical edema of the occipital lobes, suggestive of PRES, was observed. The serum calcium was 15.8 mg/dL. After two days of treatment with nicardipine, elcatonin, and zolendronic acid, her BP was 130/91 mmHg and serum calcium was 10.1 mg/dL. The patient regained consciousness and her mental status improved. Fluorodeoxyglucose-positron emission tomography revealed right breast cancer with extensive metastases. CONCLUSIONAlthough rare, hypercalcemia can lead to PRES by causing uncontrolled hypertension. Prompt diagnosis can help prevent severe mental disturbances and even death.     

Monitored anesthesia care for craniotomy in a patient with Eisenmenger syndrome: A case report

BACKGROUNDEisenmenger syndrome (ES) is an uncorrected congenital cardiac defect with a left-to-right shunt, leading to pulmonary arterial hypertension. Patients with ES are susceptible to hemodynamic alterations during noncardiac surgery with general anesthesia, which increases perioperative morbidity and mortality. Monitored anesthesia care (MAC) is often used during minor procedures in patients with cardiac disease. However, few reports on MAC in patients with ES exist.CASE SUMMARYA 49-year-old man was admitted for a severe headache lasting 30 d. He had been diagnosed with a large perimembranous ventricular septal defect (VSD) with bidirectional shunt flow and pulmonary arterial hypertension 10 years ago. A round mass in the right frontal lobe was revealed by Magnetic resonance imaging. Stereotactic aspiration using a neuronavigation system was performed under MAC. The patient was stayed in the hospital for 5 d, and discharged without complications.CONCLUSIONMAC may be effective for craniotomy in patients with ES.     

Dental management of a patient with Moebius syndrome: A case report

BACKGROUNDMoebius syndrome (MBS) is a nonprogressive and rare congenital neuromuscular disorder involving the facial nerve and abductor nerve; it mainly manifests as facial paralysis and eye strabismus paralytic symptoms. Tissues in the oral cavity are also compromised, characterized by microstomia, micrognathia, tongue malformation, cleft lip, high arched palate or cleft palate, bifid uvula, and dental malocclusion. Therefore, dentistry plays a fundamental and crucial role in caring for these individuals. However, there is limited available data on MBS treatment, particularly regarding dental management.CASE SUMMARYThis case report presents dental treatment of a 21-year-old man with MBS and discusses crucial interactions among oral complications of MBS. In this case, the patient was clinically characterized by congenital neuromuscular disorder, occlusal disorders, and tooth and gum problems. It is noteworthy that the patient presented early eruption of deciduous teeth 2 mo after birth, which has not been reported in other MBS cases and suggests a potentially new clinical manifestation of this syndrome. It is important to note that MBS cannot be cured, and oral manifestations of this syndrome can be managed by a multidisciplinary health care team that helps the patient maintain oral hygiene and dental health. After a series of oral treatments, no obvious poor oral hygiene, swollen gums, or abnormal imaging results were observed after 2 years of follow-up.CONCLUSIONThis case addressed the oral clinical manifestations of MBS and difficulties experienced during dental management, and suggested early tooth eruption as a potentially new clinical manifestation of this syndrome. Knowledge of the loop-mediated association among oral complications of this syndrome is essential to perfecting treatments.     

Long-term survival in a patient with Hutchinson-Gilford progeria syndrome and osteosarcoma: A case report

BACKGROUNDHutchinson-Gilford progeria syndrome (HGPS) is an extremely rare disease characterized by the rapid appearance of aging with an onset in childhood. Serious cardiovascular complications can be life-threatening events for affected patients and the cause of early death. Herein we report a HGPS patient with osteosarcoma hat was successfully managed and is alive 13 years after the diagnosis. This is the first report describing the detailed surgical procedure and long-term follow-up of osteosarcoma in a patient with HGPS. CASE SUMMARYThe patient was diagnosed with HGPS at 5 years of age with typical features and was referred to our department with a suspected bone tumor of the left proximal tibia at the age of 18. Open biopsy of the tibial bone tumor revealed a conventional fibroblastic osteosarcoma. We have developed and performed a freezing technique using liquid nitrogen for tumor reconstruction. This technique overcame the small size of the tibia for megaprosthesis and avoided amputation and limb salvage was achieved 13 years post-operatively. Although the patient had a number of surgical site complications, such as wound dehiscence, and superficial and deep infections due to vulnerable skin in HGPS, no recurrence or metastases were detected for 13 years, and she walks assisted by crutches. Her general health was good at the latest follow-up at 31 years of age.CONCLUSIONA HGPS patient with osteosarcoma was successfully managed and she was alive 13 years after the diagnosis.     

Delayed diagnosis and comprehensive treatment of cutaneous tuberculosis: A case report

BACKGROUNDTuberculosis (TB) is a widespread infectious disease, with an incidence that is increasing worldwide. Cutaneous TB (CTB) occurs rarely, accounting for less than 1% of all TB cases. Due to the clinical presentation and diagnostic difficulties, CTB is often clinically neglected and misdiagnosed. CASE SUMMARYA 32-year-old man underwent several debridement surgeries and skin flap transplantation after trauma. The wound remained unhealed, accompanied by sinus formation. According to empirical judgment, T-cell spot of TB test, and bacterial culture of pyogenic fluids, he was diagnosed with CTB due to infection with exogenous Mycobacterium tuberculosis. A comprehensive anti-TB regimen that included isoniazid, rifampicin, ethambutol, and pyrazinamide was applied. The sinus was filled with a hydrophilic fiber-containing silver dressing, and wound-protecting sponges were applied to part of the wound. The wound healed after 40 d. No ulceration was found within 2 mo after discharge; further follow-up will be conducted.CONCLUSIONA non-healing wound may be caused by TB infection. Comprehensive treatment of CTB is effective.     

Cutaneous nodules and a novel GNAS mutation in a Chinese boy with pseudohypoparathyroidism type Ia: A case report and review of literature

BACKGROUND Pseudohypoparathyroidism type Ia(PHP Ia) is a rare hereditary syndrome, and patients with early PHP Ia are generally not diagnosed based on the presentation of cutaneous nodules as the main clinical feature. Here, we describe a Chinese boy with PHP Ia in whom the main clinical feature was cutaneous nodules, and the patient exhibited a novel GNAS mutation.CASE SUMMARY A 5-year-old boy presented with a 5-year history of cutaneous nodules scattered over his entire body. The patient had a short stature, round face, short neck, and slightly flattened nose;he also had multiple hard papules and cutaneous nodules scattered over his entire body. The patient had a significantly elevated parathyroid hormone level. His serum calcium level was reduced, while his serum phosphorus level was increased and his serum thyroid-stimulating hormone level was elevated. Skin biopsy showed osteoma cutis in subcutaneous tissue. Sanger sequencing revealed a frameshift mutation, c.399 del T(p.Ser133 Argfs*2) in exon 5 of the GNAS gene. The patient was diagnosed with PHP Ia and subclinical hypothyroidism. He was given 1,25-dihydroxyvitamin D,calcium carbonate, and synthetic L-thyroxine. After 3 months of treatment, the patient’s parathyroid hormone level decreased, and his serum calcium and serum phosphorus levels were normal. Moreover, his thyroid-stimulating hormone level decreased.CONCLUSION These findings can help dermatologists to diagnose PHP Ia in patients with cutaneous nodules as the main early clinical feature.