Journal of Medical Case Reports最新文献

Background: Caroli's disease, an autosomal recessive, hereditary-related disorder, is a rare disease, in which the diagnosis is based primarily on medical imaging and pathophysiological examinations. It is characterized by intrahepatic cystic dilation or cysts. Hepatic resection of diseased lobes can cure or avoid the risk of malignancy.

Case presentation: A 65-year-old Asian man was admitted to our hospital with cholangitis and recurrent septicemia. The pathological diagnosis was polycystic bile duct dilation and cholangitis, consistent with the symptoms of Caroli's disease. In addition, a genetic test report indicated that the autoimmune regulator (AIRE) gene had a c.275G > A variant (p. Arg92Gln hybrid mutation), which was different from the previously reported PKHD1 gene mutation in Caroli's disease.

Conclusion: This finding suggests that AIRE mutations may be associated with Caroli's disease, with a risk of death and difficulty in curing.

Background: Type 2 autoimmune pancreatitis is characterized by multiple or segmental strictures of the main pancreatic duct without upstream dilatation. We encountered a case of mass-forming type 2 autoimmune pancreatitis with upstream main pancreatic duct dilatation that was difficult to diagnose preoperatively using endoscopic ultrasound sonography-guided fine-needle aspiration cytology.

Case presentation: A 58-year-old Japanese man presented with recurrent acute pancreatitis secondary to a 10-mm pancreatic head tumor. The tumor compressed the main pancreatic duct, thereby dilating the upstream main pancreatic duct. The serum immunoglobin G4 levels were within normal limits. Endoscopic ultrasound sonography-guided fine-needle aspiration cytology was performed twice. However, few degenerative atypical cells were observed, resulting in an indeterminate diagnosis. The patient underwent pancreaticoduodenectomy, and pathological findings revealed duct-centric pancreatitis with neutrophilic infiltration of the interlobular pancreatic ductal epithelium. Immunoglobin G4-positive cells were not detected. The patient was diagnosed with type 2 autoimmune pancreatitis.

Conclusion: Mass-forming type 2 autoimmune pancreatitis can present with main pancreatic duct strictures and upstream dilatation. Although endoscopic ultrasound sonography-guided fine-needle aspiration cytology is useful for the diagnosis of solid pancreatic masses, preoperative diagnosis of type 2 autoimmune pancreatitis remains challenging. Further studies should be conducted to determine whether "hidden" type 2 autoimmune pancreatitis may be more frequently present and to improve the accuracy of the diagnosis of type 2 autoimmune pancreatitis.

Background: Long-term use of oral or parenteral corticosteroids is the most common cause of hypothalamic-pituitary-adrenal axis suppression and iatrogenic Cushing's syndrome. Still, iatrogenic Cushing's syndrome occurs rarely following the administration of topical corticosteroids.

Case presentation: This case study discusses the misuse of a high-potency corticosteroid cream by an Iranian 5-year-old male with plaque-form psoriasis, resulting in Cushingoid symptoms including moon face, buffalo hump, red striae, and weight gain. The child experienced different complications following iatrogenic Cushing's syndrome, such as frequent vomiting and fever, which led to expiration.

Conclusion: Proper use and monitoring of topical corticosteroids are emphasized, especially among children. This study also underlines the potential side effects of high-potency corticosteroids and the importance of physicians' and parents' awareness, highlighting the avoidance of excessive topical corticosteroid prescriptions.

Introduction: Burkitt lymphoma is an aggressive form of non-Hodgkin B cell lymphoma. Oral lesions often are a component of the disseminated disease process that may involve regional lymph nodes or may at times represent the primary extranodal form of the disease. However, isolated oral Burkitt lymphoma in adults is extremely rare.

Case report: We report the case of a 26-years-old Caucasian Moroccan woman with oral Burkitt lymphoma without any other general symptoms. It presented as swelling of the left mandibular and maxillary soft tissue progressing for 1 month. The unilateral location in both maxilla and mandible is an atypical feature. The diagnosis was based on clinical and radiographic features. Furthermore, the histopathological examination and immunochemistry was of paramount importance for making the final diagnosis of oral Burkitt lymphoma.

Conclusion: BL is considered an emergency. Early diagnosis and rapid referral are needed, and consequently, the role of the dentist in the diagnosis is important and crucial.

Background: Pulmonary carcinoids are rare neuroendocrine tumors accounting for less than 1% of all lung cancers. They are classified into two subcategories; typical and atypical carcinoids with the latter tending to grow faster. Historically, open thoracotomy was the standard approach for pulmonary resection. However, in the recent years, video-assisted thoracoscopy has gained popularity and become the preferred technique for resectioning pulmonary carcinoids. This report details the diagnosis and management of a pleural carcinoid tumor in a patient with recurrent unilateral pleural effusion.

Case presentation: A 77-year-old African male with a history of hypertension and heart failure with reduced ejection presented with a 6-month history of an irritating non-productive cough, occasional productive episodes and exertional dyspnea but no history of hemoptysis, chest pain, orthopnea, evening fevers, or significant weight loss. Despite multiple interventions, including tube drainage and antituberculosis medications, symptoms persisted. A chest X-ray was performed and it revealed a homogeneous opacity on the left, and a computed tomography scan showed mild pleural thickening especially at the bases. Video-assisted thoracoscopy was performed revealing thickened pleural and biopsies confirmed a diagnosis of malignant carcinoid tumor. The patient underwent successful pleurodesis, resulting in significant improvement.

Conclusion: This case highlights the pivotal role of video-assisted thoracoscopy in diagnosing and managing rare cases such as pulmonary carcinoids when less invasive methods such as thoracentesis fail.

Background: Oculocutaneous albinism is a rare autosomal recessive disorder caused by congenital melanin deficiency, resulting in hypopigmentation of the eyes, hair, and skin. This study included a Chinese family with an oculocutaneous albinism pedigree, in which the proband presented with oculocutaneous albinismcombined with secondary angle closure, which has been rarely reported in previous literature. This article primarily focused on the clinical and genetic examination results of this patient and provided recommendations for ophthalmologist to treat patients with oculocutaneous albinism in clinical practice.

Case presentation: The proband in this case study is a 53-year-old Chinese male who showed depigmentation of the skin, hair, iris, and fundus, accompanied by photophobia, decreased vision, high intraocular pressure, nystagmus, macular fovea hypoplasia, and cataracts. Owing to the opacity and expansion of the lens, the volume ratio of lens to eyeball was increased, causing crowded anterior segment, bombed iris, and narrowed chamber angle and, ultimately, leading to secondary angle closure. Whole-exome sequencing suggested that the two patients in the pedigree harbored the compound heterozygous variants c.230G > A (p. Arg77Gln) and c.832G > A (p. Arg278*) in the TYR gene, while the healthy member carried the TYR c.230G > A (p. Arg77Gln) variant, which was consistent with the autosomal recessive inheritance pattern and further confirmed the diagnosis was oculocutaneous albinism. On the basis of the above results, the patient was diagnosed with oculocutaneous albinism, senile mature cataract, and secondary angle closure in the right eye and ocular hypertension in the left eye, as well as bilateral nystagmus. Then, the patient was prescribed carteolol eye drops to control intraocular pressure and underwent phacoemulsification and intraocular lens implantation surgery for the right eye. Postoperatively, the patient's intraocular pressure was effectively controlled, and visual acuity improved.

Conclusion: We report a patient with oculocutaneous albinism combined with cataract and secondary angle closure, and whole-exome sequencing suggested that he harbored TYR gene variants. Comprehensive examinations were important for identifying the causes of angle closure and making proper treatment strategies. Genetic testing enabled precise diagnosis and genetic counseling.

Background: Ganglioneuroma represents an uncommon benign tumor arising from the sympathetic nerves, and its development from the fifth nerve is an infrequent entity. Few ganglioneuromas arising from the fifth nerve have been discussed in literature. The authors describe the second pediatric ganglioneuroma arising from the fifth nerve.

Case presentation: A 7 year-old Asian male suffering from left-sided facial paresthesia, accompanied by several episodes of complex seizures over the past 2 years, presented to our clinic. The patient also complained of sudden unconsciousness and concurrent upward gaze lasting less than a minute. A brain computed tomography scan and magnetic resonance imaging revealed an isodense lesion containing focal calcifications measuring 31 × 28 mm and a solid mass extending from the pontine surface to Meckel's cave, probably originating from the fifth nerve or its root entry zone. The lesion was mildly hypointense on T1-weighted sequences and hyperintense on T2-weighted and fluid attenuated inversion recovery sequences. Gadolinium injection revealed only minimal heterogeneous enhancement. Histopathologic and immunohistochemical findings were consistent with ganglioneuroma. A lateral approach via retrosigmoid incision and suboccipital lateral craniectomy toward the cerebellopontine angle was performed under neuromonitoring supervision, and the postoperative period was uneventful.

Conclusion: Although ganglioneuroma arising from the fifth nerve is an extremely rare entity, it should be considered when diagnosing lesions in Meckel's cave or the cerebellopontine angle cistern.

Background: Yellow nail syndrome is characterized by a yellow discoloration of the nails, respiratory symptoms, and lymphedema. It was first described in 1964 and has an estimated prevalence of less than 1:1.000.000. Despite its diverse manifestations affecting different organ systems and a wide range of associated diseases, yellow nail syndrome is most commonly related to impaired lymphatic drainage. The treatment depends on whether the underlying pathology can be identified and includes dietary, pharmacological, interventional, and surgical approaches.

Case presentation: We report the case of a 73-year-old Caucasian male patient presenting with exertional shortness of breath and orthopnea, nonpitting edema of his distal extremities, and yellow discoloration of both his finger and toe nails. The diagnostic workup, which included the drainage of a large chylous pleural effusion, computed tomography of the chest, and lymphangiography, led to the diagnosis of yellow nail syndrome, presumably caused by a mediastinal lipoma compressing the thoracic duct. Treatment-wise, a percutaneous lymphatic embolization was performed after conservative treatment did not lead to a significant improvement of symptoms.

Conclusion: While demonstrating the specific diagnostic findings of this case, we try to point out common pathogenetic aspects of the disorder and present the currently available treatment options.

Background: Gangliocapsular stroke is a specific type of hemorrhagic stroke that primarily affects the basal ganglia and internal capsule due to rupture of the lenticulostriate perforating arteries. Patients afflicted with this condition often present with contralateral motor deficits, particularly affecting the upper extremity. Additionally, these individuals may experience challenges in coordination and stability, largely due to the involvement of the shoulder and scapular girdle. The stability of proximal joint is essential to increase the limited functions and distal movement of the upper extremities. Malalignment of scapula further complicates the execution of daily activities, profoundly affecting patients' overall well-being and reducing engagement in society. Therefore, restoring upper limb function is imperative for a successful return to daily routines, with a focus on improving arm function being a crucial aspect of stroke therapy. Many methods have been explored for enhancing the function of upper limb in stroke, but the emphasis is more toward developing independence in grasp and improving scapular stability is often neglected. This case reports aim to examine the effect of targeted scapular proprioceptive neuromuscular facilitation on upper limb function in a patient who suffered a gangliocapsular stroke.

Case presentation: A 54-year-old South Asian man was presented with left-sided hemiplegia following a right gangliocapsular stroke. He reported challenges in using his left upper limb and weakness of the left side of the body, which severely impaired his ability to perform activities of daily living. Radiological findings indicated a right gangliocapsular hemorrhage. The patient underwent a 4-week physiotherapy rehabilitation program, with outcome measures including the palpation meter, Fugl-Meyer assessment of upper extremity, and functional independence measure. Following the treatment period, significant improvements were observed in scapular alignment and upper limb functions, underscoring the effectiveness of rehabilitation strategies for optimal outcomes and recovery.

Conclusions: The study underscores the beneficial outcomes of targeted scapular muscles through facilitatory movement patterns to improve upper extremity function in gangliocapsular stroke. Implementing scapular proprioceptive neuromuscular facilitation techniques led to a beneficial change in scapular positioning, consequently improving upper limb function, and quality of life significantly.

Objectives: Conjoined twins are described as having been physically fused during pregnancy and delivery. They share some vital organs, such as the heart, lungs, liver, abdomen, etc. The article aims to present a unique discussion on conjoined twins at the abdomen, with twin A with anencephaly and face presentation and twin B with cephalic presentation. It is a conjoined twin fused at the abdomen. Twin A has anencephaly with lung and abdomen outside of the abdomen, with negative fetal heartbeat, and Twin B has cephalic presentation with a well-formed head and positive heartbeat. Conjoined twin is rarely diagnosed at delivery, but in resource-limited countries such as Ethiopia, it is diagnosed during delivery. It had a psychological impact both for pregnant women and the family. Therefore, appropriate counseling of pregnant women to have early ultrasound screening and follow-up is crucial. We encountered a rare case of a conjoined twin pregnancy involving twin A with anencephaly and face presentation and twin B with cephalic presentation. The patient, a 19-year-old woman from rural Ethiopia, presented at Nekemte Specialized Hospital with pushing down pain and a gush of fluid per vagina for 10 hours. After admission, an obstetric ultrasound revealed a twin pregnancy with twin A presenting with anencephaly (face presentation) and a negative fetal heart rate, and twin B presenting with cephalic presentation and a positive fetal heart rate. The patient underwent a cesarean section, and the procedure resulted in one conjoined twin with anencephaly and the other well formed. After a week of recovery, the patient was discharged with counseling for future pregnancies.

Conclusion: Conjoined twinning is a rare phenomenon, occurring in 1 in 50,000-100,000. It is rarely diagnosed during delivery. However, in resource-limited setups, it is diagnosed during delivery.