Project description:Solitary fibrous tumors of the pleura (SFTPs) are relatively rare tumors that originate from mesenchymal cells of submesothelial tissue of the pleura. Most patients with SFTPs are asymptomatic; however, pleuritic chest pain, cough, and dyspnea can develop. If hypoglycemia is associated with a solitary fibrous tumor, it is referred to as the Doege-Potter syndrome.A 70-year-old man had visited our hospital with a chief complaint of dyspnea, and he was diagnosed as having a solitary fibrous tumor. A few years later, he developed hypoglycemia, and he underwent excision of the mass.Occasionally, SFTPs induce several paraneoplastic events, such as hypertrophic osteoarthropathy. We described here a patient with an SFTP with Doege-Potter syndrome who was successfully treated with complete resection. Although lesions can be histologically benign, they can clinically present with malignant features.
Project description:Wolcott-Rallison syndrome is a rare genetic syndrome of neonatal diabetes, liver failure, and growth retardation. We present a case with a EIF2AK3 p.(Arg902Ter) mutation, additionally complicated by hypothyroidism, impaired renal function, and exocrine pancreas insufficiency, focusing on clinical management. For its optimization, thorough care of multiple organ systems is needed.
Project description:Sanjad-Sakati syndrome (SSS) is a rare genetic disorder with autosomal recessive pattern of inheritance characterized by hypoparathyroidism, sever growth failure, mental retardation, susceptibility to chest infection, and dentofacial anomalies. A child with SSS was referred to the dental departmentseeking dental help for sever dental caries which was attributed to his dietary habits and quality of dental tissues. Full restorative rehabilitation was done under general anesthesia. Two years later, the child presented with recurrent caries affecting uncrowned teeth. High carries recurrence rate was blamed for the nutritional habits endorsed by the parents. Only steel crowned teeth survived such hostile oral environment which suggested shifting of treatment strategy towards full coverage restorations instead of classical cavity preparations and fillings during a second attempt for dental treatment under general anesthesia and for the dental treatment of two cousins of the same child. The author recommends effective health education for parents including the nature of their child's genetic disorder, nutritional needs, and dental health education to improve the life style of such children.
Project description:The coexistence of thyroid functioning nodules and Graves' disease is called Marine-Lenhart syndrome. This condition is estimated to occur in 0.8-2.7% of patients with Graves' disease with few cases reported in the literature. Criteria for the diagnosis are not well defined. Here, we present a case of hyperthyroidism characterized by the presence of stimulating TSH receptor antibodies and severe bilateral exophthalmos. A thyroid uptake and scan revealed an elevated 24-hour iodine-131 uptake and a discrete hot nodule in the upper pole of the right lobe which was also observed with a thyroid ultrasound. The patient was diagnosed with Marine-Lenhart syndrome complicated by thyroid eye disease and was treated with methimazole followed by thyroidectomy and orbital decompression. We review the existing literature and propose criteria for the diagnosis and treatment of this condition.
Project description:BackgroundPaget-Schroetter syndrome (PSS) is an unusual cause of venous thromboembolism, which is frequently misdiagnosed and undiagnosed in clinical settings. Although axillary-subclavian vein thrombosis is related with PSS typically presents in healthy young athletes, it is possible for this phenomenon to occur in various age settings.Case summaryWe present a case of recurrent pulmonary embolism caused by a thrombus in dilated axillary vein related with PSS. A 74-year-old man was referred to our cardiology department for chest discomfort and hypoxaemia. The contrast computed tomography (CT) revealed that he suffered from bilateral pulmonary embolism. However, we could not find the source of embolism despite other examinations such as ultrasonography of the inferior limb deep vein. Three months later, the patient complained of dyspnoea for a second time, and a contrast CT scan was subsequently performed revealing a new pulmonary embolism. Surgical resection of the giant thrombus was performed, resulting in a good clinical course without recurrence.DiscussionWe experienced a case of recurring pulmonary embolism in a patient with undiagnosed PSS, which was related to the active and vigorous movement of the right arm during his working. Although there are various treatments for PSS including anticoagulation, first rib resection, and lifestyle modification, we need to consider what is the best treatment individually.
Project description:Guillain-Barre syndrome (GBS) is a severe acute paralytic neuropathy with rapid progression usually occurring post infections. Inspite of the active medications it is associated with severe weakness, incomplete recovery and pain. Long disease course can cause autonomic dysfunction or deterioration in general health and life threatening complications like respiratory failures. Current case was diagnosed as GBS with motor, sensory & sphincter disturbance. Ayurveda diagnosis of Sarvangavata was made and customized treatment strategy was planned. First part of Kapha pitta samrushtavata (Vatadosha associated with Kapha and Pitta dosha) and then vatahara chikitsa were followed. Treatments were Koshta shodhana (gut cleansing), Abhyanga (massage of whole body with medicated oil), Ksheera parisheka (dripping of medicated milk over body), Shastikashali panda sweda (Rubbing of medicated rice poultice over body), Anna lepa (application of medicated rice over the body), Shirotalam (trans cranial drug administration by applying medicines over scalp), Basti (trans rectal administration of medicines) and Oral medicaments. Panchakarma treatments were for 14 days followed by oral medications for next 151 days. Intervention period of 165 days showed complete recovery of all the motor, sensory & sphincter deficits however follow up of the patient was maintained for 437 days looking in to the sustainability of the outcomes.
Project description:Uterine torsion (UT) is one of the most uncommon obstetric complications. It usually occurs in the third trimester. The confirmed diagnosis relies on > 45° rotation at the utero-cervical junction around its longitudinal axis. The etiology is unknown in 20% of cases. It might be asymptomatic in some rare cases; however, symptoms usually manifest with acute abdominal pain, fetal bradycardia, vaginal bleeding or failure of labor progress. Laparotomy is used to establish the diagnosis and the management of UT. We report a 180° uterine dextrotorsion case of an obese 24-year-old pregnant female who presented with severe abdominal pain at the 35th gestational week, which was diagnosed and managed by an emergency laparotomy. UT is a rare though serious condition and must be doubted before a suspicious clinical image. Therefore, it is suggested to avoid consecutive pregnancies and the resultant uterine rupture.
Project description:Backgroundcardio-facio-cutaneous syndrome is a rare genetic disorder affecting less than 900 people in the world. It is mainly characterized by craniofacial, dermatologic and cardiac defects, but also gastroenterological symptoms may be present, ranging from feeding difficulties to gastroesophageal reflux and constipation.In this report we describe a case of this syndrome characterized by severe feeding and growth difficulties, with a particular focus on the management of gastroenterological complications.Case presentationthe patient was a caucasian male affected by Cardio-Facio-Cutaneous syndrome who presented feeding difficulties already a few hours after birth. These symptoms worsened in the following months and lead to a complete growth arrest and malnutrition. He was first treated with a nasogastric tube placement. Subsequently, a laparoscopic Nissen fundoplication and a laparoscopic Stamm gastrostomy were performed. The child was fed with nocturnal enteral nutrition and diurnal oral and enteral nutrition. Eventually the patient resumed feeding validly and regained adequate growth.Conclusionthis paper aims to bring to light a complex rare syndrome that infrequently comes to the attention of the pediatricians and whose diagnosis is not always straightforward. We also highlight the possible complications under a gastroenterologic point of view. Our contribution can be helpful to the pediatrician in the first diagnostic suspect of this syndrome. In particular, it is worth highlighting that -in an infant with Noonan-like features- symptoms like suction or swallowing problems, vomiting and feeding difficulties should orient towards the diagnosis of a Cardio-facio-cutaneous syndrome. It is also important to stress that its related gastroenterological issues may lead to severe growth failure and therefore the role of the gastroenterologist is key to manage supplemental feeding and to establish whether a nasogastric or gastrostomic tube placement is necessary.
Project description:Ranula is a rare and benign extravasation mucocele that is clinically characterized by asymptomatic sublingual or submandibular masses. Surgical excision is considered the most effective treatment approach, but it has been associated with high invasiveness and several complications (hemorrhage, damage to Wharton's duct, and lingual nerve injury). Over the past decade, more conservative therapies have been rapidly disseminated into clinical practice to seek a more effective and less traumatic approach for young patients. In this report, an 8-year-old female with an asymptomatic, recurrent sublingual ranula was treated using a conservative approach with marsupialization and an intracystic injection of a plaque remover (Hybenx® gel). After incision of the cystic dome, Hybenx® gel was applied into the cystic lumen for 20 seconds and then aspirated; next, the area was rinsed thoroughly with sterile saline solution before suturing. Ultrasound re-evaluation at 10 months and intraoral clinical examination at 24 months confirmed the absence of relapse. Our results support the hypothesis that marsupialization combined with intracystic injection of Hybenx® gel could be an encouraging conservative treatment alternative for recurrent sublingual ranula in children. Further randomized controlled trials are needed to test this hypothesis.
Project description:BackgroundChylothoraces result from traumatic or non-traumatic insult to the thoracic duct, allowing for lymph to accumulate in the chest. Patients present with increasing dyspnea and fatigue, and the diagnosis is made via chest X-ray, computed tomography (CT), and comparative analysis of the pleural fluid and serum. Management largely entails diet modification and drainage with or without adjunct medications, reserving pleurodesis, percutaneous duct embolization, or thoracic duct ligation for recalcitrant cases.Case descriptionA 72-year-old female presented with a 10-year history of recurrent chylothorax. This was precipitated by a rib biopsy in 2013 for concerns of fibrous dysplasia, which was complicated by pneumothorax requiring chest tube placement and recurrent chylous effusion. The patient remained minimally symptomatic despite its chronicity. The lymphatic leak fistulized into her right breast in 2019 to cause significant swelling and exacerbate discomfort. Upon presentation, she noted incessant dyspnea, right arm and breast lymphedema, and exercise intolerance. Initial treatment involved placement of an indwelling pleural catheter (IPC) and interventional radiology (IR)-guided thoracic duct embolization. When persistent, she proceeded with video-assisted thorascopic surgery (VATS) decortication, talc pleurodesis, and ligation of the chylous leak. She was discharged with a drain that remained for one month until sinograms displayed resolution of the effusion.ConclusionsOptimal chylothorax management remains debatable as it is understudied with few high-quality trials guiding treatment. When conservative management is unsuccessful, procedural intervention is often required to minimize morbidity and mortality. A literature review yielded sparse similarities between our case and others, highlighting the irregularity of presentation, challenges faced, and importance of a multidisciplinary approach in management.