臨床症例報告ジャーナル

Mucocele is a relatively common salivary gland pathology and manifest in the oral cavity most commonly on labial mucosa. It can be very well diagnosed based on history and clinical features alone. Our case report aimed to explain the history, clinical features, and surgical removal of mucocele using a simple surgical technique, which helps to enhance the knowledge of the general dental practitioner for diagnosing and managing this condition.

Swyer-James-MacLeod syndrome is a condition characterized radiologically by hyperlucency in a single lung lobe associated with reduced vascularity, alveolar hyperdistention, and air trapping in the absence of bronchial airway obstruction. Ventricular septal defect is the most common congenital heart defect in childhood and causes irreversible pulmonary hypertension and Eisenmenger syndrome if not treated in a timely manner. In this case report, we present a 25-year-old patient with Swyer-James-MacLeod syndrome and Eisenmenger syndrome. Including Swyer-James- MacLeod syndrome in the differential diagnosis of patients with atypically distributed pulmonary emphysema and unilateral hyperlucency is important for early diagnosis and timely treatment.

Population of adults with congenital heart disease (CHD) has increased over the years; double discordance is an anatomically complex condition that accounts for 0.5 to 1% of congenital heart disease. We report the case of a 27-year-old patient, primigravida, presenting for elective caesarean section for intrauterine growth retardation, whose pre-anaesthetic evaluation revealed a corrected great vessel transposition. We review the continuous spinal anesthesia during cesarean section in a pregnant patient with incidental discovery of congenital heart disease.

Androgen insensitivity syndrome is the most frequent etiology of disorders of sex development in 46,XY individuals. It is characterized by evidence of feminization of the external genitalia at birth, abnormal secondary sexual development in puberty, and male infertility. It is an X-linked recessive disease caused by alterations in the androgen receptor (AR) gene, resulting in a spectrum of androgens resistance. The clinical phenotype can be classified into complete, partial, and mild forms. We report a male patient presenting clinical manifestations of partial phenotype: primary infertility, severe oligozoospermia, bilateral gynecomastia, decreased body hair distribution, and hypospadias. Whole exome sequencing (WES) revealed a hemizygous variant in the AR gene with a significantly reduced allele ratio compared with a normal hemizygous allele in male, which is consistent with somatic mosaicism. Mosaic variants in this gene are rare and are associated with incomplete gene dysfunction and subsequently mild or moderate phenotype. AR gene analysis is considered in infertile male patients with genital anomalies and features of under-virilization. Detection of somatic mosaicism is still a major technical challenge. However, WES offers an opportunity to detect lower levels of mosaicism more readily than other traditional methods. Identification of these mutations significantly impacts the diagnosis, management choices and genetic counseling for affected individuals.

Polycythemia vera (PV) is a myeloproliferative disorder which is characterized by excessive production of erythrocytes as well as myeloid and megakaryocytic proliferation. PV associated with IgA nephropathy (IgAN) has rarely been reported in the literature. The long-term renal prognosis of these patients is unknown. PV associated with IgAN mainly occurred in males and was often accompanied with hematuria and mild-to-moderate renal insufficiency. Long term prognosis was good for most patients, and few progressed relatively faster to ESRD has been observed in our study.