A Rare Case of Coexistence of Pituitary Stalk Interruption Syndrome and Mayer-Rokitansky-Küster-Hauser Syndrome

2020 ◽  
Author(s):  
Wanlu Ma ◽  
Xi Wang ◽  
jiangfeng mao ◽  
Min Nie ◽  
Xueyan Wu

Abstract Background Pituitary stalk interruption syndrome (PSIS) is a rare congenital pituitary anatomical disorder. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital absence of the uterus, cervix, and part of the vagina in phenotypically normal 46, XX females. Case presentation A young woman was initially diagnosed as MRKH syndrome based on primary amenorrhea, 46, XX karyotype, and absence of uterus or vagina. Further investigation revealed breech delivery, short stature, hypogonadotropic hypogonadism, interrupted pituitary stalk on pituitary MRI, which led to the diagnosis of PSIS. After a 12-month treatment with estradiol, no signs of uterus or vagina were found on pelvic computed tomography.Conclusions We highlight the importance of considering PSIS in the differential diagnosis of suspected MRKH syndrome in prepubertal girls or girls with delayed or absent puberty, when no uterus is visualized on imaging.

2021 ◽  
Vol 07 (03) ◽  
pp. e124-e126
Author(s):  
Mark Portelli ◽  
Mark Bugeja ◽  
Charles Cini

Abstract Purpose Bochdalek's hernia is a type of congenital diaphragmatic hernia occurring secondary to a defect in the posterior attachment of diaphragm. This condition commonly presents with respiratory insufficiency in infants. To date, there are less than 100 cases of Bochdalek's hernia presenting in adults published in the literature. The mainstay treatment of Bochdalek's hernia involves reduction of hernial contents back into the peritoneal cavity with a tensionless graft repair closing the diaphragmatic defect. Case Presentation We present an atypical case of the Bochdalek hernia presenting in a previously healthy 16-year-old male who presented to the Accident and Emergency department with a 2-day history of dysphagia and loss of breath. The Bochdalek hernia was confirmed on computed tomography (CT) imaging and the patient underwent surgical repair with Gore-Tex mesh. Conclusion The report shows a rare case of the Bochdalek hernia in a young adult, successfully managed with a laparotomy.


2019 ◽  
Vol 5 (1) ◽  
Author(s):  
Masayuki Kojima ◽  
Masanori Inoue ◽  
Seiichiro Yamamoto ◽  
Toshio Kanai ◽  
Seishi Nakatsuka ◽  
...  

Abstract Background Conventional lymphangiography cannot detect leakage sites of hepatic lymphatic vessels. Percutaneous transhepatic lymphangiography can be used to visualize leakage sites, and once the leakage site has been confirmed, effective sclerotherapy can be performed. Case presentation A rare case of intractable hepatic lymphorrhea due to injury of the hepatoduodenal ligament following pancreaticoduodenectomy is reported. Drainage of massive ascites from the drainage tube continued after surgery. Percutaneous transhepatic lymphangiography visualized the intrahepatic lymphatic vessels and the leakage site at the hepatic hilum. An 8-Fr drainage catheter was inserted adjacent to the leakage point under fluoroscopic computed tomography guidance. Repeated sclerotherapy using intraperitoneal administration of OK-432 (picibanil) through the catheter was performed, which exposed the leakage site, and control of the ascites was finally achieved. Conclusions To the best of our knowledge, this is the first successful case of detection of a leakage site using intrahepatic lymphangiography, followed by sclerotherapy using OK-432.


BMC Surgery ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yi-Min Gu ◽  
Xiao-Yang Li ◽  
Wen-Ping Wang ◽  
Long-Qi Chen

Abstract Background Symptomatic Bochdalek hernias are found mainly in infants in respiratory distress and occur rarely in adults. Case presentation We report a rare case of Bochdalek hernia associated with developmental abnormalities in an adult who exhibited acute chest pain and dyspnea on exertion. Conclusions This case highlights the importance of the differential diagnosis of acute left-sided chest pain and antenatal examination.


2020 ◽  
Author(s):  
Jianbin Zhang ◽  
Yilv Zhu ◽  
Hongwei Li ◽  
Caihua Yu ◽  
Weiwei Min

Abstract BackgroundAnatomic variation may increase the difficulty and risk for anatomic segmentectomy. The preoperative three-dimensional computed tomography bronchography and angiography(3D-CTBA) can provide a detailed model of the segmental structure, and contribute to precise and safe segmentectomy.Case presentationWe report a case with anomalous bronchi and pulmonary vessels in the right upper posterior segment (RS2), under the guidance of 3D-CTBA, anatomic RS2segmentoctomywas performed accurately and safely, the postoperative condition was uneventful.ConclusionsThis rare case highlights the importance of 3D-CTBA to guild accurate segmentectomy with anatomic variation.


2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Ehsan Aghaei Moghadam ◽  
Nahid Aslani ◽  
Helia Mojtabavi ◽  
Farnoosh Larti ◽  
Azin Ghamari ◽  
...  

Granulomatosis with polyangiitis (GPA), necrotizing vasculitis of small and medium-sized vessels, is traditionally believed to mainly affect respiratory tract with additional focal kidney involvements as its primary manifestations with a relatively rare annual incidence rate of 20-50 cases per million. Six percent of the affected cases have cardiac involvements; among which, aneurysms comprise the lowest penetrance. By this paper, we aim to cast light on clinical diagnostic and treatment methods of a rare case presentation, a 10-year-old male GPA patient, diagnosed with massive thrombosis at his coronary artery aneurysm. GPA should be considered as differential diagnosis of prolong fever and coronary aneurysms in adolescents.


2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Jianbin Zhang ◽  
Yilv Zhu ◽  
Hongwei Li ◽  
Caihua Yu ◽  
Weiwei Min

Abstract Background Anatomic variation may increase the difficulty and risk of anatomic segmentectomy. The preoperative three-dimensional computed tomography bronchography and angiography (3D-CTBA) can provide a detailed model of the segmental structure, and contribute to precise and safe segmentectomy. Case presentation This is a case of anomalous bronchi and pulmonary vessels in the right upper posterior segment (RS2). Under the guidance of 3D-CTBA, anatomic RS2 segmentectomy was performed accurately and safely. The postoperative condition was uneventful. Conclusions This rare case highlights the importance of 3D-CTBA to guild accurate segmentectomy with anatomic variation.


BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Xuhui Chen ◽  
Lijie Ren ◽  
Guozhen Qiu ◽  
Liming Cao

Abstract Background During medical imaging, cystic radiation encephalopathy and brain metastasis are difficult to differentiate, and hence they are easily misdiagnosed. To our knowledge, a nasopharyngeal carcinoma recurrence after more than seven years with cerebral metastasis that mimicked cystic radiation encephalopathy has not been reported. Case presentation A 52-year-old man was admitted to the hospital owing to weakness of the right limb for one month, which increased in intensity for three days. He had been diagnosed with nasopharyngeal carcinoma in 2011, which was treated by radiotherapy. The patient successively developed cystic radiation encephalopathy and brain metastasis from the nasopharyngeal carcinoma, which mimicked cystic radiation encephalopathy relapse. Left frontotemporal craniotomy, surgical resection of brain metastasis, and repair of the skull base and dura were performed. Postoperative computed tomography showed that midline deviation recovered, and brain edema was reduced. Conclusions This report is significant because brain metastasis from nasopharyngeal carcinoma can masquerade as a benign entity and cause fatal consequences. In patients presenting with cystic radiation encephalopathy, brain metastasis should be considered as a differential diagnosis.


2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Tetsuya Yamamoto ◽  
Takehiko Matsushita ◽  
Kenjiro Ito ◽  
Shinji Matsushima ◽  
Kazuya Yoshida ◽  
...  

Introduction. Trapezoid fractures are uncommon in sports. We presented a rare case of a trapezoid fracture associated with a scaphoid fracture caused by punching a ball in a football goalkeeper. Case Presentation. A 19-year-old male who played as a football goalkeeper visited our hospital with complaints of sustained pain from the right wrist to the hand after punching a ball. Scaphoid fracture was diagnosed on plain radiographs, whereas trapezoid fracture was overlooked. Computed tomography revealed a displaced trapezoid fracture associated with a scaphoid fracture. Both fractures were successfully treated by open reduction and internal fixation using cannulated screws. Almost complete bone union was achieved at 5 months after surgery. The patient returned to play as a football goalkeeper. Conclusion. The simultaneous occurrence of trapezoid and scaphoid fractures has never been reported. Trapezoid fractures are rare and can be overlooked on plain radiographs, as what happened in the present case, because the trapezoid is small and overlaps with other carpal bones on plain radiographs. If there is sustained pain in the wrist and hand after punching, combined trapezoid and scaphoid fractures should be considered as the possible injury.


2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Hideki Ota ◽  
Hirotaka Ishida ◽  
Hidekazu Matsumoto ◽  
Tomoharu Ishiyama

Abstract Background Desmoplastic fibroblastoma is an uncommon, benign, fibrous tumor exhibiting infiltrative growth. Most of these tumors are small, slow-growing, and develop as subcutaneous lesions in the extremities. Cases of desmoplastic fibroblastoma in the chest wall are quite rare, and the preoperative diagnosis of such cases remains challenging as these tumors can mimic the characteristics of desmoid-type fibromatosis, which often occurs in the chest wall. We aimed to describe a rare case of desmoplastic fibroblastoma exhibiting rapid growth in the chest wall of a patient that was successfully treated with marginal excision only by diagnostic imaging before surgery. Case presentation A 79-year-old man was admitted to our hospital after experiencing right shoulder pain lasting for a few months. A 4 × 4 × 2 cm mass was incidentally detected at the right second rib two years prior. Chest computed tomography revealed a well-defined homogeneous mass with a muscle-like density along the right lateral chest wall, the size of which had increased to 12 × 10 × 4.5 cm in two years. Dynamic contrast-enhanced computed tomography revealed abundant vascularity at the periphery of the tumor. Magnetic resonance imaging revealed iso-intensity to muscle on T1-weighted images, slightly high intensity on T2-weighted images, and rim-like contrast enhancement at the periphery of the tumor, with uniform thickness on gadolinium-enhanced T1-weighted images with fat suppression. Rim-like contrast enhancement is an imaging feature that can distinguish cases of desmoplastic fibroblastoma from desmoid-type fibromatosis. We diagnosed the tumor as desmoplastic fibroblastoma by diagnostic imaging without tissue biopsy. Marginal excision with videoscopic assistance was performed through a small incision. The pathological diagnosis was desmoplastic fibroblastoma. The patient’s postoperative course was uneventful, and his shoulder pain was relieved after the surgery. Conclusions Desmoplastic fibroblastoma in the chest wall is extremely rare, but should be considered in the differential diagnosis when desmoid-type fibromatosis is clinically suspected. Gadolinium-enhanced magnetic resonance imaging is helpful in confirming the differential diagnosis.


2019 ◽  
Vol 98 (5) ◽  
pp. E21-E23
Author(s):  
Evelyne S. Diom ◽  
Johannes J. Fagan ◽  
Ellen Bolding

Objective: We report a rare case of an intralingual ranula. The differential diagnosis, etiology, diagnostic features, and management are discussed. Case Report: An 18-year-old man presented with a mass that extended along the ventral surface of the tongue and up to the tip. The computed tomography scan clearly defined the extent of a cystic lesion. The pathologic diagnosis of an intralingual ranula was made. Conclusion: Lingual cysts have a varied etiology. Diagnosis hinges on histological examination of the cyst wall. Conservative resection and histological examination is the standard of care.


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