Second branchial cleft cyst with snoring during sleep as initial symptom: A case report and literature review

The second branchial cleft cyst lacks typical symptoms, and its clinical manifestations are complex and varied. Among them, the second branchial cleft cyst manifested by sleep snoring is relatively rare, and it can easily lead to missed diagnosis or misdiagnosis. This paper reports a case of a second branchial cleft abscess with snoring as the main manifestation. The branchial cleft cyst was removed using an endoscopic branchial cleft.     

Thoracoscopic resection of functional posterior mediastinal paraganglioma: a case report

A 48-year-old man with posterior mediastinal mass was diagnosed as functional mediastinal paraganglioma during surgical exploration via open thoracotomy in another hospital. The operation was terminated because of severe hypertension when touching the tumor. He was transferred to our center later. After systemic evaluation, the patient was medicated with oral alpha- and beta-blockades, as well as intravenous fluid resuscitation for two weeks. His blood pressure became stable and a second operation was planned. The tumor was removed completely via the thoracoscopic approach, and was finally confirmed as functional paraganglioma by immunohistochemistry. The patient recovered uneventfully after surgery, with no recurrence during one year follow-up visit.     

A prenatal case of Simpson-Golabi-Behmel syndrome type 1 with a 0.26-Mb deletion fragment at Xq26.2 inherited from mother: Case report

Rationale:The purpose of this report was to explore how to manage the fetus of Simpson-Golabi-Behmel syndrome type 1 (SGBS1) and to provide a definite diagnosis to guide the following genetic counseling for the pregnancy.Patient concerns:A 24-year-old women, gravida 1, para 0, was 172 cm tall with weight 65 kg. She was referred to our center for counseling due to second-trimester ultrasound screening anomalies at 22 + 5 weeks of gestation age. Meanwhile the ultrasound examination indicated the overgrowth of the fetus. She and her husband were healthy and nonconsanguineous without family history.Diagnoses:The karyotype and copy number variations sequencing (CNV-seq) combined with fetal ultrasound manifestation confirmed the diagnosis of SGBS1.Interventions:No treatment for the fetus.Outcomes:Pregnancy was terminated.Lessions:Once fetal overgrowth and other malformation are revealed in prenatal ultrasound, although without polyhydramnios and organomegaly, SGBS1 should be considered and further genetic testing such as CNV-seq and whole exon sequencing should be conducted to help clinicians provide a definite diagnosis to guide the following genetic counseling and the next pregnancy.     

Sustained remission of multi-line relapsed extranodal NK/T-cell lymphoma,nasal type,following sintilimab and chidamide: A case report

Introduction:There is currently no optimal treatment modality for refractory or relapsed Extranodal NK/T-cell lymphoma, nasal type (ENKTL). In recent years, programmed cell death protein 1 (PD-1)/programmed cell – ligand 1 pathway blockade and histone deacetylase inhibitors have emerged as promising strategies for refractory or relapsed ENKTL. Accumulating evidence has shown that therapeutic effects of anti-PD-1 antibody could be enhanced by histone deacetylase inhibitors.Patient Concerns:A 52-year-old male patient was diagnosed with stage I ENKTL by biopsy on February 2010.Diagnosis:positron emission tomography–computed tomography (PET-CT) and biopsy were used to diagnose relapsed ENKTL in 2014.Interventions:The patient was treated with radiotherapy and six cycles of etoposide, prednisone, vincristine (Oncovin), cyclophosphamide and doxorubicin hydrochloride and achieved complete remission (CR) by PET-CT in August 2010. In November 2014, the patient was diagnosed with relapsed stage IV ENKTL and was treated with six cycles of alternative chemotherapy with the regimen of steroid (dexamethasone), methotrexate, ifosfamide, L-asparaginase, and etoposide and pegaspargase plus Gemcitabine, Oxaliplatin along with radiotherapy. The patient achieved remission and was placed on thalidomide maintenance treatment. Upon suspicion of relapse suggested by PET-CT, Autologous stem cell transplant was performed after BCNU, etoposide, Ara-C, and melphalan preconditioning on February 2016. Following relapse again in December 2016, the lesions of left femur were treated with radiotherapy and he received anti-PD-1 antibody. He was treated with 4 cycles of pegaspargase plus Gemcitabine, Oxaliplatin on August 2017. The patient''s condition improved. He received maintenance and consolidation therapy including lenalidomide, radiotherapy of the right nasal cavity and paranasal sinuses and antigen-specific reactive T cell infusions. PET-CT imaging showed there was high metabolic activity signal in the distal end of right femoral on August 2018 and the treatment regimen was adjusted to radiotherapy of the distal end of right femoral and systemic treatment of PD-1 antibody Sintilimab and chidamide 30 mg. After 5 months post-treatment, biopsy of nasopharynx showed no lymphoma cells. The patient continued the treatment of Sintilimab and chidamide 20 mg.Outcomes:PET-CT imaging showed his lesions obtained remission after 8 months post-treatment.Conclusion:Thus, combination of sintilimab and chidamide can be used to treat relapsed ENKTL following treatment failure from chemo-, radio-, and immuno-therapy. A clinical trial has been launched.     

Rebound of platelet count in a patient with type 2 calreticulin-mutant essential thrombocythemia in the postpartum period: A case report

Introduction:Essential thrombocythemia (ET) is an uncommon myeloproliferative neoplasm. It is more common in females; 20% of them are below 40 years old. The optimal management of ET during pregnancy and postpartum periods is still not well established.Patient concern:We report a case of a young lady with type 2 calreticulin-mutant ET who developed a marked rebound in her platelet count (reaching 2030 × 10³/μL) 2 weeks after premature delivery of her baby (24^th week of gestation). She was on Pegylated Interferon alfa 2-a during pregnancy (her platelet was around 500 × 10³/μL during the second trimester), but she had stopped it on her own from the 20^th week of gestation.Diagnosis:Postpartum rebound of platelet count due to medication non-compliance.Intervention and outcome:We resumed her regular Pegylated Interferon, and subsequently, her platelet count reduced dramatically within 4 weeks to an acceptable level (684 × 10³ /μL).Conclusion:The guideline is still not well-established regarding the optimal approach for postpartum rebound of platelet count in patients with ET. It is still unclear if the platelet count will fall spontaneously without intervention after the rebound phase. Further research is required to establish the optimal management of ET during the postpartum phase. This case emphasizes the importance of platelet count follow-up during the postpartum period and outlines our management approach in such cases.     

Ductopenia and cirrhosis in a 32-year-old woman with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature

Progressive familial intrahepatic cholestasis type 3 is caused by a mutation in the ATP-binding cassette, subfamily B, member 4 (ABCB4) gene encoding multidrug resistance protein 3. A 32-year-old woman with a history of acute hepatitis at age 9 years was found to have jaundice during pregnancy in 2008, and was diagnosed as having intrahepatic cholestasis of pregnancy. In 2009, she underwent cholecystectomy for gallstones and chronic cholecystitis. However, itching and jaundice did not resolve postoperatively. She was admitted to our hospital with fatigue, jaundice, and a recently elevated γ-glutamyl transpeptidase level. Liver biopsy led to the diagnosis of biliary cirrhosis with ductopenia. Genetic testing revealed a pathogenic heterozygous mutation, ex13 c.1531G A (p.A511 T), in the ABCB4 gene. Her father did not carry the mutation, but her mother's brother carried the heterozygous mutation. We made a definitivediagnosis of familial intrahepatic cholestasis type 3. He symptoms and liver function improved after 3 mo o treatment with ursodeoxycholic acid.     

Dramatic recovery without steroid therapy and withdrawal from insulin therapy in a subject with hyperglycemic and hyperosmolar syndrome and depletion of insulin secretory capacity induced by type 2 autoimmune pancreatitis: A case report

Introduction:Autoimmune pancreatitis (AIP) is characterized by the involvement of autoimmune mechanisms and is classified as type 1, together with infiltration of IgG4-positive cells, and type 2 with poor serological abnormal findings. In clinical practice, AIP is often treated with steroid therapy.Patient concerns:An 81-year-old Japanese woman had thirst and appetite loss in the previous 5 days; thus, she visited a local doctor. The patient had no abdominal or back pain. She had no history of diabetes mellitus, but at that time blood glucose level and HbA1c were as high as 633 mg/dL and 9.7%, respectively, and she was referred to our institution.Diagnosis:Based on various clinical findings in this patient, we diagnosed her with hyperglycemic and hyperosmolar syndrome and depletion of insulin secretory capacity induced by type 2 AIP.Interventions and outcomes:The patient completely recovered without steroid therapy and was withdrawn from insulin therapy.Conclusions:We should bear in mind the possibility of AIP when the sudden onset of hyperglycemia together with enlargement of the pancreas are observed in subjects without a history of diabetes mellitus.