Clinical Overview > Condition/ Syndrome
You are looking at 31 - 40 of 561 items
Search for other papers by Skand Shekhar in
Google Scholar
PubMed
Search for other papers by Rasha Haykal in
Google Scholar
PubMed
Search for other papers by Crystal Kamilaris in
Google Scholar
PubMed
Search for other papers by Constantine A Stratakis in
Google Scholar
PubMed
Search for other papers by Fady Hannah-Shmouni in
Google Scholar
PubMed
Summary
A 29-year-old primigravida woman with a known history of primary aldosteronism due to a right aldosteronoma presented with uncontrolled hypertension at 5 weeks of estimated gestation of a spontaneous pregnancy. Her hypertension was inadequately controlled with pharmacotherapy which lead to the consideration of surgical management for her primary aldosteronism. She underwent curative right unilateral adrenalectomy at 19 weeks of estimated gestational age. The procedure was uncomplicated, and her blood pressure normalized post-operatively. She did, however, have a preterm delivery by cesarean section due to intrauterine growth retardation with good neonatal outcome. She is normotensive to date.
Learning points:
-
Primary aldosteronism is the most common etiology of secondary hypertension with an estimated prevalence of 5–10% in the hypertensive population.
-
It is important to recognize the subtypes of primary aldosteronism given that certain forms can be treated surgically.
-
Hypertension in pregnancy is associated with significantly higher maternal and fetal complications.
-
Data regarding the treatment of primary aldosteronism in pregnancy are limited.
-
Adrenalectomy can be considered during the second trimester of pregnancy if medical therapy fails to adequately control hypertension from primary aldosteronism.
Search for other papers by Fumiaki Kawano in
Google Scholar
PubMed
Search for other papers by Tadato Yonekawa in
Google Scholar
PubMed
Search for other papers by Hideki Yamaguchi in
Google Scholar
PubMed
Search for other papers by Nobuhiro Shibata in
Google Scholar
PubMed
Search for other papers by Kousei Tashiro in
Google Scholar
PubMed
Search for other papers by Makoto Ikenoue in
Google Scholar
PubMed
Search for other papers by Shun Munakata in
Google Scholar
PubMed
Search for other papers by Kazuhiro Higuchi in
Google Scholar
PubMed
Search for other papers by Hiroyuki Tanaka in
Google Scholar
PubMed
Search for other papers by Yuichiro Sato in
Google Scholar
PubMed
Search for other papers by Ayumu Hosokawa in
Google Scholar
PubMed
Search for other papers by Shinsuke Takeno in
Google Scholar
PubMed
Search for other papers by Kunihide Nakamura in
Google Scholar
PubMed
Search for other papers by Atsushi Nanashima in
Google Scholar
PubMed
Summary
A 54-year-old woman was referred to our hospital with a cervical tumor. CT revealed a cervical tumor extending to the upper mediastinum, tracheal deviation and tumor infiltration in the cervical vessels. She was followed-up because no diagnosis of malignancy was made by cytology. However, 2 months later, a CT scan showed enlargement of the tumor and tracheal stenosis, and a surgical biopsy was performed and she was diagnosed with anaplastic thyroid cancer (ATC). The tracheal tube with tracheal stenosis could not be removed due to the rapid growth of the tumor, necessitating management by mechanical ventilation. Due to the difficulty of surgical resection, she was treated with lenvatinib. A lenvatinib solution was made and administered via a nasogastric tube. After lenvatinib treatment, the tumor volume decreased and the tracheal stenosis improved. The tracheal tube was removed and oral intake became possible. She was discharged and received ambulatory lenvatinib therapy. The tumor was significantly reduced in size, but gradually grew and was exposed through the cervical wound 6 months later. Esophageal perforation occurred 10 months after the start of treatment. Lenvatinib was re-administered via a nasogastric tube. Eleven months later, the patient died of massive bleeding from the exposed cervical tumor. Patients with advanced ATC may require management with mechanical ventilation for airway stenosis or with a nasogastric tube for esophageal stenosis and perforation. We experienced a case in which lenvatinib was safely administered via a nasogastric tube while performing mechanical ventilation.
Learning points:
-
An anaplastic thyroid cancer patient under mechanical ventilator management was treated with lenvatinib via a nasogastric tube.
-
The lenvatinib solution can easily be prepared and administered via a nasogastric tube.
-
The lenvatinib solution was effective for a patient with difficulty in oral intake.
-
Lenvatinib could also improve the prognosis of an anaplastic thyroid cancer patient with severe airway and esophageal trouble.
Search for other papers by Agnieszka Łebkowska in
Google Scholar
PubMed
Search for other papers by Anna Krentowska in
Google Scholar
PubMed
Search for other papers by Agnieszka Adamska in
Google Scholar
PubMed
Search for other papers by Danuta Lipińska in
Google Scholar
PubMed
Search for other papers by Beata Piasecka in
Google Scholar
PubMed
Search for other papers by Otylia Kowal-Bielecka in
Google Scholar
PubMed
Search for other papers by Maria Górska in
Google Scholar
PubMed
Search for other papers by Robert K Semple in
Google Scholar
PubMed
Search for other papers by Irina Kowalska in
Google Scholar
PubMed
Summary
Type B insulin resistance syndrome (TBIR) is characterised by the rapid onset of severe insulin resistance due to circulating anti-insulin receptor antibodies (AIRAs). Widespread acanthosis nigricans is normally seen, and co-occurrence with other autoimmune diseases is common. We report a 27-year-old Caucasian man with psoriasis and connective tissue disease who presented with unexplained rapid weight loss, severe acanthosis nigricans, and hyperglycaemia punctuated by fasting hypoglycaemia. Severe insulin resistance was confirmed by hyperinsulinaemic euglycaemic clamping, and immunoprecipitation assay demonstrated AIRAs, confirming TBIR. Treatment with corticosteroids, metformin and hydroxychloroquine allowed withdrawal of insulin therapy, with stabilisation of glycaemia and diminished signs of insulin resistance; however, morning fasting hypoglycaemic episodes persisted. Over three years of follow-up, metabolic control remained satisfactory on a regimen of metformin, hydroxychloroquine and methotrexate; however, psoriatic arthritis developed. This case illustrates TBIR as a rare but severe form of acquired insulin resistance and describes an effective multidisciplinary approach to treatment.
Learning points:
-
We describe an unusual case of type B insulin resistance syndrome (TBIR) in association with mixed connective tissue disease and psoriasis.
-
Clinical evidence of severe insulin resistance was corroborated by euglycaemic hyperinsulinaemic clamp, and anti-insulin receptor autoantibodies were confirmed by immunoprecipitation assay.
-
Treatment with metformin, hydroxychloroquine and methotrexate ameliorated extreme insulin resistance.
Search for other papers by Thien Vinh Luong in
Google Scholar
PubMed
Search for other papers by Lars Rejnmark in
Google Scholar
PubMed
Search for other papers by Anne Kirstine Arveschoug in
Google Scholar
PubMed
Search for other papers by Peter Iversen in
Google Scholar
PubMed
Search for other papers by Lars Rolighed in
Google Scholar
PubMed
Multiple endocrine neoplasia 1 (MEN1) is a rare genetic syndrome characterized by the manifestation of tumors in endocrine glands most often in the parathyroid gland (PG). Treatment may involve several parathyroidectomies (PTX), especially in young patients, which increases the risk of postoperative complications. We present a 16-year-old patient with a family history of MEN1 syndrome. The patient started to show biochemical signs of hyperparathyroidism (HPT) and hypercalcemia at the age of 10. One and a half years later a PTX was successfully performed with removal of the two left PGs. However, a rise in plasma parathyroid hormone and ionized calcium was observed 4 years later. Preoperative noninvasive imaging with 99mTc-sestamibi scintigraphy showed no definitive parathyroid adenoma. A 11C-methionine position emission tomography combined with MRI (MET-PET/MRI) was then performed and detected a focus posterior to the lower part of the right thyroid lobe. Intraoperative angiography with fluorescence and indocyanine green dye was used to assess the vascularization of the remaining PGs. The lower right PG was removed. The patient was discharged with normalized biochemical values and without postoperative complications. Recurrence of primary HPT is frequent in MEN1 patients which often necessitates repeated operations. Our case report showed that the use of advanced noninvasive preoperative imaging techniques and intraoperative fluorescent imaging are valuable tools and should be taken into consideration in selected cases to avoid postoperative complications. To our knowledge, this is the first case where MET-PET/MRI has been used to detect parathyroid pathology.
Learning points:
-
MEN1 patients will develop parathyroid disease, which eventually will lead to surgical treatment with removal of the pathological glands.
-
Preoperatively usage of MRI combined with PET tracers such as 11C-methionine and 18F-Fluorocholine are able to detect parathyroid pathology with a higher sensitivity than conventional imaging.
-
Techniques using intraoperatively angiography with fluorescence and florescent dyes allow surgeons to verify the vascularization of each parathyroid gland.
-
Optimization of noninvasive preoperative imaging techniques and intraoperative fluorescent imaging are valuable tools and should be taken into consideration when performing PTX consecutively in the same patient to avoid postoperative complications.
Search for other papers by Mike Lin in
Google Scholar
PubMed
Cancer Genetics Unit, Kolling Institute of Medical Research, New South Wales, Australia
Faculty of Health and Medicine, University of Sydney, New South Wales, Australia
Search for other papers by Venessa Tsang in
Google Scholar
PubMed
Search for other papers by Janice Brewer in
Google Scholar
PubMed
Cancer Genetics Unit, Kolling Institute of Medical Research, New South Wales, Australia
Faculty of Health and Medicine, University of Sydney, New South Wales, Australia
Search for other papers by Roderick Clifton-Bligh in
Google Scholar
PubMed
Cancer Genetics Unit, Kolling Institute of Medical Research, New South Wales, Australia
Faculty of Health and Medicine, University of Sydney, New South Wales, Australia
Search for other papers by Matti L Gild in
Google Scholar
PubMed
Summary
Lymphocytic hypophysitis is a rare neuroendocrine disease characterised by an autoimmune inflammatory disorder of the pituitary gland. We report a 50-year-old woman who presented with headaches and bilateral sixth cranial nerve palsies. MRI of the pituitary revealed extensive fibrosis involving the sellar and extending into both cavernous sinuses causing bilateral occlusion of the internal carotid arteries (ICA). Transphenoidal biopsy confirmed the diagnosis of infiltrative fibrotic lymphocytic hypophysitis. Symptoms resolved with high dose of oral steroids but relapsed on tapering, requiring several treatments of i.v. pulse steroids over 8 months. Rituximab combined with mycophenolate mofetil was required to achieve long-term symptom relief. Serial MRI pituitary imaging showed stabilisation of her disease without reduction in sellar mass or regression of ICA occlusion. The patient’s brain remained perfused solely by her posterior circulation. This case demonstrates an unusual presentation of a rare disease and highlights a successful steroid-sparing regimen in a refractory setting.
Learning points:
-
Lymphocytic hypophysitis is a rare inflammatory disorder of the pituitary gland. In exceptional cases, there is infiltration of the cavernous sinus with subsequent occlusion of the internal carotid arteries.
-
First-line treatment of lymphocytic hypophysitis is high-dose glucocorticoids. Relapse after tapering or discontinuation is common and its use is limited by long-term adverse effects.
-
There is a paucity of data for treatment of refractory lymphocytic hypophysitis. Goals of treatment should include improvement in symptoms, correction of hormonal insufficiencies, reduction in lesion size and prevention of recurrence.
-
Steroid-sparing immunosuppressive drugs such as rituximab and mycophenolate mofetil have been successful in case reports. This therapeutic combination represents a viable alternative treatment for refractory disease.
Neuroendocrine Tumour Unit, ENETS Center of Excellence, Royal Free London NHS Foundation Trust, London, UK
Search for other papers by Tu Vinh Luong in
Google Scholar
PubMed
Search for other papers by Zaibun Nisa in
Google Scholar
PubMed
Neuroendocrine Tumour Unit, ENETS Center of Excellence, Royal Free London NHS Foundation Trust, London, UK
Search for other papers by Jennifer Watkins in
Google Scholar
PubMed
Department of Medical Oncology, Royal Free London NHS Foundation Trust, London, UK
Search for other papers by Aimee R Hayes in
Google Scholar
PubMed
Summary
Colorectal poorly differentiated neuroendocrine carcinomas (NECs) are typically associated with poor outcomes. The mechanisms of their aggressiveness are still being investigated. Microsatellite instability (MSI) has recently been found in colorectal NECs showing aberrant methylation of the MLH1 gene and is associated with improved prognosis. We present a 76-year-old lady with an ascending colon tumour showing features of a pT3 N0 R0, large cell NEC (LCNEC) following right hemicolectomy. The adjacent mucosa showed a sessile serrated lesion (SSL) with low-grade dysplasia. Immunohistochemistry showed loss of expression for MLH1 and PMS2 in both the LCNEC and dysplastic SSL. Molecular analysis indicated the sporadic nature of the MLH1 mismatch repair (MMR) protein-deficient status. Our patient did not receive adjuvant therapy and she is alive and disease-free after 34 months follow-up. This finding, similar to early-stage MMR-deficient colorectal adenocarcinoma, is likely practice-changing and will be critical in guiding the appropriate treatment pathway for these patients. We propose that testing of MMR status become routine for early-stage colorectal NECs.
Learning points:
-
Colorectal poorly differentiated neuroendocrine carcinomas (NECs) are known to be aggressive and typically associated with poor outcomes.
-
A subset of colorectal NECs can display microsatellite instability (MSI) with mismatch repair (MMR) protein-deficient status.
-
MMR-deficient colorectal NECs have been found to have a better prognosis compared with MMR-proficient NECs.
-
MMR status can be detected using immunohistochemistry.
-
Immunohistochemistry for MMR status is routinely performed for colorectal adenocarcinomas.
-
Immunohistochemical expression of MMR protein and MSI analysis should be performed routinely for early-stage colorectal NECs in order to identify a subgroup of MMR-deficient NECs which are associated with a significantly more favourable prognosis.
Sorbonne Université, Paris, France
Search for other papers by Dured Dardari in
Google Scholar
PubMed
Paris-Sud Medical School, Paris-Saclay University, Orsay, France
Search for other papers by Alfred Penfornis in
Google Scholar
PubMed
Sorbonne Université, Paris, France
Search for other papers by Agnes Hartemann in
Google Scholar
PubMed
Summary
We report the onset of acute Charcot neuroarthropathy during pregnancy in two patients with type 1 diabetes using retrospective review of case notes. We describe for the first time the onset of acute Charcot neuroarthropathy during pregnancy in two patients with type 1 diabetes. Pregnancy may promote the onset and worsening of a number of diabetic complications. A link between pregnancy and the onset of acute Charcot neuroarthropathy is demonstrated for the first time in this report.
Learning points:
-
Patients with already diagnosed sensitive neuropathy can develop an active phase of Charcot neuroarthropathy during pregnancy.
-
The rapid correction of hyperglycaemia may induce an active phase of Charcot neuroarthropathy during pregnancy.
Research Institute in Biomedical and Health Sciences, University of Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain
Search for other papers by Mauro Boronat in
Google Scholar
PubMed
Summary
Isolated, adult-onset central hypothyroidism is very rare, and its diagnosis can be challenging. A 42-year-old patient was referred for evaluation of a 2.8 cm thyroid nodule. She referred symptoms that could be attributed to hypothyroidism and thyroid tests showed low TSH and normal-low levels of free T4. However, evaluation of the remaining pituitary hormones and pituitary MRI were normal, yet a radionuclide scanning revealed that the thyroid nodule was ‘hot’ and the tracer uptake in the remaining thyroid tissue was suppressed. Interpretation of these studies led to a misdiagnosis of subclinical hyperthyroidism and the patient was treated with radioiodine. Soon after treatment, she developed a frank hypothyroidism without appropriate elevation of TSH and the diagnosis of central hypothyroidism was made a posteriori. Long term follow-up revealed a progressive pituitary failure, with subsequent deficiency of ACTH and GH. This case should alert to the possibility of overlooking central hypothyroidism in patients simultaneously bearing primary thyroid diseases able to cause subclinical hyperthyroidism.
Learning points:
-
Although rarely, acquired central hypothyroidism can occur in the absence of other pituitary hormone deficiencies.
-
In these cases, diagnosis is challenging, as symptoms are unspecific and usually mild, and laboratory findings are variable, including low, normal or even slightly elevated TSH levels, along with low or low-normal concentrations of free T4.
-
In cases with low TSH levels, the coexistence of otherwise common disorders able to cause primary thyroid hyperfunction, such as autonomous nodular disease, may lead to a misdiagnosis of subclinical hyperthyroidism.
Blacktown Clinical School, School of Medicine, Western Sydney University, Sydney, Australia
Search for other papers by Mawson Wang in
Google Scholar
PubMed
Search for other papers by Benjamin Jonker in
Google Scholar
PubMed
Search for other papers by Louise Killen in
Google Scholar
PubMed
Search for other papers by Yvonne Bogum in
Google Scholar
PubMed
Garvan Institute of Medical Research, Sydney, Australia
St. Vincent’s Clinical School, Faculty of Medicine, UNSW Sydney, Sydney, Australia
Search for other papers by Ann McCormack in
Google Scholar
PubMed
Blacktown Clinical School, School of Medicine, Western Sydney University, Sydney, Australia
Search for other papers by Ramy H Bishay in
Google Scholar
PubMed
Summary
Cushing’s disease is a rare disorder characterised by excessive cortisol production as a consequence of a corticotroph pituitary tumour. While the primary treatment is surgical resection, post-operative radiation therapy may be used in cases of ongoing inadequate hormonal control or residual or progressive structural disease. Despite improved outcomes, radiotherapy for pituitary tumours is associated with hypopituitarism, visual deficits and, rarely, secondary malignancies. We describe an unusual case of a 67-year-old female with presumed Cushing’s disease diagnosed at the age of 37, treated with transsphenoidal resection of a pituitary tumour with post-operative external beam radiotherapy (EBRT), ketoconazole for steroidogenesis inhibition, and finally bilateral adrenalectomy for refractory disease. She presented 30 years after her treatment with a witnessed generalised tonic-clonic seizure. Radiological investigations confirmed an extracranial mass infiltrating through the temporal bone and into brain parenchyma. Due to recurrent generalised seizures, the patient was intubated and commenced on dexamethasone and anti-epileptic therapy. Resection of the tumour revealed a high-grade osteoblastic osteosarcoma. Unfortunately, the patient deteriorated in intensive care and suffered a fatal cardiac arrest following a likely aspiration event. We describe the risk factors, prevalence and treatment of radiation-induced osteosarcoma, an exceedingly rare and late complication of pituitary irradiation. To our knowledge, this is the longest reported latency period between pituitary irradiation and the development of an osteosarcoma of the skull.
Learning points:
-
Cushing’s disease is treated with transsphenoidal resection as first-line therapy, with radiotherapy used in cases of incomplete resection, disease recurrence or persistent hypercortisolism.
-
The most common long-term adverse outcome of pituitary tumour irradiation is hypopituitarism occurring in 30–60% of patients at 10 years, and less commonly, vision loss and oculomotor nerve palsies, radiation-induced brain tumours and sarcomas.
-
Currently proposed characteristics of radiation-induced osteosarcomas include: the finding of a different histological type to the primary tumour, has developed within or adjacent to the path of the radiation beam, and a latency period of at least 3 years.
-
Treatment of osteosarcoma of the skull include complete surgical excision, followed by systemic chemotherapy and/or radiotherapy.
-
Overall prognosis in radiation-induced sarcoma of bone is poor.
-
Newer techniques such as stereotactic radiosurgery may reduce the incidence of radiation-induced malignancies.
Search for other papers by Silvia M Becerra-Bayona in
Google Scholar
PubMed
Search for other papers by Víctor Alfonso Solarte-David in
Google Scholar
PubMed
Banco Multitejidos y Centro de Terapias Avanzadas, Fundación Oftalmológica de Santander, Clínica Carlos Ardila Lulle – FOSCAL, Floridablanca, Colombia
Search for other papers by Claudia L Sossa in
Google Scholar
PubMed
Search for other papers by Ligia C Mateus in
Google Scholar
PubMed
Search for other papers by Martha Villamil in
Google Scholar
PubMed
Search for other papers by Jorge Pereira in
Google Scholar
PubMed
Search for other papers by Martha L Arango-Rodríguez in
Google Scholar
PubMed
Summary
Diabetic foot ulcer morbidity and mortality are dramatically increasing worldwide, reinforcing the urgency to propose more effective interventions to treat such a devastating condition. Previously, using a diabetic mouse model, we demonstrated that administration of bone marrow mesenchymal stem cells derivatives is more effective than the use of bone marrow mesenchymal stem cells alone. Here, we used the aforementioned treatments on three patients with grade 2 diabetic foot ulcers and assessed their beneficial effects, relative to the conventional approach. In the present study, two doses of cell derivatives, one dose of mesenchymal stem cells or one dose of vehicle (saline solution with 5% of human albumin), were intradermally injected around wounds. Wound healing process and changes on re-epithelialization were macroscopically evaluated until complete closure of the ulcers. All ulcers were simultaneously treated with conventional treatment (PolyMen® dressing). Patients treated with either cell derivatives or mesenchymal stem cells achieved higher percentages of wound closure in shorter times, relative to the patient treated with the conventional treatment. The cell derivative and mesenchymal stem cells approaches resulted in complete wound closure and enhanced skin regeneration at some point between days 35 and 42, although no differences between these two treatments were observed. Moreover, wounds treated with the conventional treatment healed after 161 days. Intradermal administration of cell derivatives improved wound healing to a similar extent as mesenchymal stem cells. Thus, our results suggest that mesenchymal stem cell derivatives may serve as a novel and potential therapeutic approach to treat diabetic foot ulcers.
Learning points:
-
In diabetic mouse models, the administration of mesenchymal stem cells derivatives have been demonstrated to be more effective than the use of marrow mesenchymal stem cells alone.
-
Mesenchymal stem cells have been explored as an attractive therapeutic option to treat non-healing ulcers.
-
Mesenchymal stem cells derivatives accelerate the re-epithelialization on diabetic foot ulcers.