scholarly journals Phaeochromocytoma presenting with polyuria: an uncommon presentation of a rare tumour

2014 ◽  
Vol 2014 ◽  
Author(s):  
N Atapattu ◽  
K A C P Imalke ◽  
M Madarasinghe ◽  
A Lamahewage ◽  
K S H de Silva
Keyword(s):  
Correct Diagnosis ◽  
List Type ◽  
Rare Tumour ◽  
Uncommon Presentation ◽  
The Family ◽  
History Of ◽  
Associated Conditions ◽  
Complete Physical Examination ◽  
Learning Points

Summary Children rarely present with phaeochromocytoma. Their presentation differs from that of adults. The classic triad of sweating, headache and palpitation may not always present in children with phaeochromocytoma. In this study, we present a 6-year-old girl who came to us with polyuria and polydipsia for evaluation of suspected diabetes insipidus. She gave a clear history of increased sweating in the recent past. On clinical examination, she was noted to have high blood pressure. Subsequent investigations revealed a phaeochromocytoma. Her polyuria and hypertension resolved immediately after the surgery. We did not have the facilities to arrange for genetic tests; however, the patient and the family members are under follow-up for other associated conditions. Learning points Polyuria and polydipsia are rare symptoms of phaeochromocytoma. Complete physical examination prevented unnecessary investigations for polyuria and led to a correct diagnosis. Classic features are not always necessary for diagnostic evaluation of rare diseases.

scholarly journals Catastrophic stroke in a patient with left ventricular non-compaction

2018 ◽  
Vol 5 (3) ◽  
pp. K59-K62 ◽  
Author(s):  
Sothinathan Gurunathan ◽  
Roxy Senior
Keyword(s):  
Left Ventricular ◽  
List Type ◽  
Colour Doppler ◽  
Mortality And Morbidity ◽  
History Of ◽  
Dimensional Echocardiography ◽  
Two Dimensional Echocardiography ◽  
Learning Points ◽  
Normal Cardiac Function

Summary We present the case of a 32-year-old man who presented with a remote history of chest pain and was diagnosed with non-compaction cardiomyopathy on echocardiography. On presentation, he was relatively asymptomatic with normal cardiac function. Unfortunately, he presented 1 year later with a catastrophic embolic stroke. Learning points: Left ventricular non-compaction (LVNC) is a myocardial disorder characterised by prominent left ventricular (LV) trabeculae, a thin compacted layer and deep intertrabecular recesses. Two-dimensional echocardiography with colour Doppler is the study of choice for diagnosis and follow-up of LVNC. CMR serves an important role where adequate echocardiographic imaging cannot be obtained. LVNC is associated with high rates of mortality and morbidity in adults, including heart failure, thromboembolic events and tachyarrhythmias.

scholarly journals Cured primary hyperparathyroidism after fine-needle aspiration biopsy-induced parathyroid disappearance

2017 ◽  
Vol 2017 ◽  
Author(s):  
Elda Kara ◽  
Elisa Della Valle ◽  
Sara De Vincentis ◽  
Vincenzo Rochira ◽  
Bruno Madeo
Keyword(s):  
Primary Hyperparathyroidism ◽  
Fine Needle Aspiration ◽  
Needle Aspiration ◽  
Complete Disappearance ◽  
List Type ◽  
Fine Needle ◽  
Time Period ◽  
History Of

Summary Spontaneous or fine-needle aspiration (FNAB)-induced remission of primary hyperparathyroidism (PHPT) may occur, especially for cystic lesions. However, the disease generally relapses over a short time period. We present a case of PHPT due to an enlarged hyperfunctioning parathyroid that underwent long-term (almost 9 years) clinical and ultrasonographic remission after the disappearance of the lesion following ultrasound (US)-assisted FNAB. A 67-year-old woman with PHPT underwent biochemical and US examinations that confirmed the diagnosis and showed a lesion suggestive for parathyroid adenoma or hyperplasia. US-FNAB of the lesion confirmed its parathyroid nature by means of elevated levels of parathyroid hormone within the needle washing fluid. At the second visit, the patient referred slight neck swelling that resolved spontaneously in the days after the US-FNAB. At subsequent follow-up, the enlarged parathyroid was not found; it was visible neither with US nor with magnetic resonance imaging. Biochemical remission persists after 9 years. This is the first reported case of cure of PHPT after US-FNAB performed on a hyperfunctioning parathyroid resulting in its complete disappearance over a period of 9 years of negative biochemical and ultrasonographic follow-up. Learning points: Spontaneous or fine-needle aspiration-induced remission of primary hyperparathyroidism can occur. Both circumstances may present disease relapse over a variable time period, but definite remission is also possible even though long-term periodic follow-up should be performed. Parathyroid damage should be ruled out in case of neck symptomatology after parathyroid fine-needle aspiration or spontaneous symptomatology in patients with history of primary hyperparathyroidism.

FC24-02 - Psychiatric literacy and the personality disorders

2011 ◽  
Vol 26 (S2) ◽  
pp. 1947-1947
Author(s):  
J. Winceslaus ◽  
A. Furnham
Keyword(s):  
Personality Disorders ◽  
Correct Diagnosis ◽  
Psychological Problem ◽  
List Type ◽  
Health Seeking ◽  
The Public ◽  
Lay People ◽  
History Of ◽  
The Media ◽  
Psychological Education

IntroductionThis study explored the unknown psychiatric literacy of the public with regard to the Personality Disorders (PDs).ObjectivesTo find out -i)Whether a lay person recognises the presence of a psychological problem in a person with a PD.ii)What labels lay people give to people living with PDs.iii)How lay people rate the quality of life of people living with PDs.iv)Whether a history of psychological education or illness improves a lay person's ability to identify a PD.AimsTo assess how much work is needed to be done in order to increase public psychiatric literacy to a satisfactory level with regard to the PDs.MethodsA vignette identification methodology was employed. 223 participants responded to the questionnaire Eccentric people’. Results: Lay people recognise people with PDs as being unhappy, unsuccessful at work and as having poor personal relationships, but do not associate these problems with psychological causes. Rates of correct labelling were low; under 7% for 7/10 PDs. History of psychological education and illness were positively correlated with the correct recognition of 70% and 60% of the personality disorders respectively.ConclusionsThe psychiatric literacy of the public with regard to the PDs is low. This raises concerns about the health seeking behaviour and correct diagnosis of sufferers, as well as the stigma attached to them and their social neglect by others. Psychiatric literacy needs to be increased, psychological education achieves this. The media could be an effective tool to increase psychiatric literacy.

scholarly journals Acute milk-alkali syndrome

2018 ◽  
Vol 2018 ◽  
Author(s):  
Bidhya Timilsina ◽  
Niranjan Tachamo ◽  
Prem Raj Parajuli ◽  
Ilan Gabriely
Keyword(s):  
Renal Failure ◽  
Metabolic Alkalosis ◽  
List Type ◽  
Over The Counter ◽  
Excess Calcium ◽  
Severe Hypercalcemia ◽  
History Of ◽  
High Index Of Suspicion ◽  
Learning Points ◽  
Rule Out

Summary A 74-year-old woman presented with progressive lethargy, confusion, poor appetite and abdominal pain. She was found to have non-PTH-mediated severe hypercalcemia with renal failure and metabolic alkalosis. Extensive workup for hypercalcemia to rule out alternate etiology was unrevealing. Upon further questioning, she was taking excess calcium carbonate (Tums) for her worsening heartburn. She was diagnosed with milk-alkali syndrome (MAS). Her hypercalcemia and alkalosis recovered completely with aggressive hydration along with improvement in her renal function. High index of suspicion should be maintained and history of drug and supplements, especially calcium ingestion, should be routinely asked in patients presenting with hypercalcemia to timely diagnose MAS and prevent unnecessary tests and treatments. Learning points: Suspect milk-alkali syndrome in patients with hypercalcemia, metabolic alkalosis and renal failure, especially in context of ingestion of excess calcium-containing supplements. Careful history of over-the-counter medications, supplements and diet is crucial to diagnose milk-alkali syndrome. Milk-alkali syndrome may cause severe hypercalcemia in up to 25–30% of cases.

scholarly journals Cushing's syndrome due to ectopic ACTH production by a nasal paraganglioma

2013 ◽  
Vol 2013 ◽  
Author(s):  
F Serra ◽  
S Duarte ◽  
S Abreu ◽  
C Marques ◽  
J Cassis ◽  
...  
Keyword(s):  
Cushing’S Syndrome ◽  
Microscopic Analysis ◽  
Cushing's Syndrome ◽  
Ectopic Acth Syndrome ◽  
List Type ◽  
Rare Tumour ◽  
Ectopic Acth ◽  
Ectopic Acth Production ◽  
The Right

Summary Ectopic secretion of ACTH is an infrequent cause of Cushing's syndrome. We report a case of ectopic ACTH syndrome caused by a nasal paraganglioma, a 68-year-old female with clinical features of Cushing's syndrome, serious hypokalaemia and a right paranasal sinus' lesion. Cranial magnetic resonance image showed a 46-mm mass on the right paranasal sinuses. Endocrinological investigation confirmed the diagnosis of ectopic ACTH production. Resection of the tumour normalised ACTH and cortisol secretion. The tumour was found to be a paraganglioma through microscopic analysis. On follow-up 3 months later, the patient showed nearly complete clinical recovery. Ectopic ACTH syndrome due to nasal paraganglioma is extremely uncommon, as only two other cases have been discussed in the literature. Learning points Ectopic Cushing's syndrome accounts for 10% of Cushing's syndrome etiologies. Most paraganglioma of the head and neck are not hormonally active. Nasal paraganglioma, especially ACTH producing, is a very rare tumour.

scholarly journals Dermatofibrosarcoma Protuberans: A Rare Cause of Neck Swelling

2020 ◽  
Vol 22 (2) ◽  
pp. 110-113
Author(s):  
Md Abdur Rahman ◽  
Mahbubul Alam ◽  
ABM Luthful Kabir ◽  
Mohammod Harun Or Rarhid ◽  
Abul Kalam Prodhan
Keyword(s):  
Adjuvant Radiotherapy ◽  
Cutaneous Lesion ◽  
Dermatofibrosarcoma Protuberans ◽  
Complete Removal ◽  
Low Grade ◽  
Incisional Biopsy ◽  
Neck Swelling ◽  
Rare Tumour ◽  
History Of

Dermatofibrosarcomaprotuberans (DFSP) is a low-grade soft tissue sarcoma (fibrosarcoma) originated from dermal and subdermal layer of the skin. The tumor infiltrates into the deeps in the form of villous or finger. For this reason, it is quite difficult to get clear surgical margins during tumor excision and the recurrence is a problem encountered frequently. We are reporting this rare tumour in a 40-year-old man presented with a 5-years history of slowly growing cutaneous lesion of the neck. Incisional biopsy confirmed the diagnosis of DFSP. Subsequently, the patient underwent wide local surgical resection, followed by reconstruction. Histopathology report revealed dermatofibrosarcomaprotuberans (DFSP). Although DFSP behave as non-aggressive malignancy, surgery with complete removal of the affected area is the treatment of choice. Moreover, adjuvant radiotherapy and follow-up of the patient is essential in order to prevent recurrence. Bangladesh J Otorhinolaryngol; October 2016; 22(2): 110-113

scholarly journals Advanced acromegaly: successful disease control for more than 16 years using octreotide LA

2020 ◽  
Vol 2020 ◽  
Author(s):  
Omayma Elshafie ◽  
Nicholas Woodhouse
Keyword(s):  
Clinical Symptoms ◽  
Tumour Size ◽  
Uncontrolled Hypertension ◽  
Therapeutic Trial ◽  
List Type ◽  
Residual Tumour ◽  
History Of ◽  
Successful Control ◽  
Long Acting

Summary A 79-year-old male presented with a 10-year history of intermittent headache, sweating, persistent hand numbness and uncontrolled hypertension. He was receiving Nifedipine and Hydrochorothizide. On examination (O/E), his BP was 180/100 he was acromegalic. His growth hormone (GH) was 10 mIU/L (0.0–0.1) and his insulin-like growth factor (IGF-1): 952 µg/L (76–160). An MRI of the pituitary revealed a 3 × 2 cm pituitary macroadenoma. Surgery was refused and the family agreed for a therapeutic trial of octreotide. His GH levels fell immediately. Two weeks later he was switched to long-acting monthly octreotide in September 2003. During his 16-year follow-up, he has remained well and asymptomatic off medications for hypertension. His BP and IGF-1 levels were also normal until octreotide Long acting (LA) octrotide was stopped for 3 months at age 96. During this period the IGF-1 level returned to pretreatment levels 500 ng/L (50–141), GH 24 mIU/L (0.0–0.1), and a small residual tumour 0.5–0.8 cm was seen on the MRI. Octreotide LA was restarted and the IGF-1 and GH levels returned to normal. He continues the same treatment to date age 97 without side effects. We conclude that the successful control of IGF-1, GH levels, hypertension, tumour size and clinical symptoms for more than 16 years occurred using octreotide LA in an elderly advanced acromegalic patient. To the best of our knowledge, this is the first report of the successful use of octreotide LA for more than 16 years. Learning points: The value of a therapeutic trial of octreotide to identify responders. Control of GH and IGF-1 secretion using octreotide LA. The report of the successful use of octreotide for more than 16 years irrespective of age.

scholarly journals Unusual AIP mutation and phenocopy in the family of a young patient with acromegalic gigantism

2018 ◽  
Vol 2018 ◽  
Author(s):  
Syed Ali Imran ◽  
Khaled A Aldahmani ◽  
Lynette Penney ◽  
Sidney E Croul ◽  
David B Clarke ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Stop Codon ◽  
Positive Family History ◽  
Receptor Protein ◽  
List Type ◽  
Aryl Hydrocarbon ◽  
The Family ◽  
Paternal Aunt ◽  
History Of ◽  
Secondary Hypogonadism

Summary Early-onset acromegaly causing gigantism is often associated with aryl-hydrocarbon-interacting receptor protein (AIP) mutation, especially if there is a positive family history. A15y male presented with tiredness and visual problems. He was 201 cm tall with a span of 217 cm. He had typical facial features of acromegaly, elevated IGF-1, secondary hypogonadism and a large macroadenoma. His paternal aunt had a history of acromegaly presenting at the age of 35 years. Following transsphenoidal surgery, his IGF-1 normalized and clinical symptoms improved. He was found to have a novel AIP mutation destroying the stop codon c.991T>C; p.*331R. Unexpectedly, his father and paternal aunt were negative for this mutation while his mother and older sister were unaffected carriers, suggesting that his aunt represents a phenocopy. Learning points: Typical presentation for a patient with AIP mutation with excess growth and eunuchoid proportions. Unusual, previously not described AIP variant with loss of the stop codon. Phenocopy may occur in families with a disease-causing germline mutation.

scholarly journals Late presentation of acromegaly in medically controlled prolactinoma patients

2016 ◽  
Vol 2016 ◽  
Author(s):  
Ekaterina Manuylova ◽  
Laura M Calvi ◽  
Catherine Hastings ◽  
G Edward Vates ◽  
Mahlon D Johnson ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Dopamine Agonists ◽  
Late Presentation ◽  
List Type ◽  
Biochemical Control ◽  
Current Recommendation ◽  
Long Term Follow Up ◽  
Learning Points

Summary Co-secretion of growth hormone (GH) and prolactin (PRL) from a single pituitary adenoma is common. In fact, up to 25% of patients with acromegaly may have PRL co-secretion. The prevalence of acromegaly among patients with a newly diagnosed prolactinoma is unknown. Given the possibility of mixed GH and PRL co-secretion, the current recommendation is to obtain an insulin-like growth factor-1 (IGF-1) in patients with prolactinoma at the initial diagnosis. Long-term follow-up of IGF-1 is not routinely done. Here, we report two cases of well-controlled prolactinoma on dopamine agonists with the development of acromegaly 10–20 years after the initial diagnoses. In both patients, a mixed PRL/GH-cosecreting adenoma was confirmed on the pathology examination after transsphenoidal surgery (TSS). Therefore, periodic routine measurements of IGF-1 should be considered regardless of the duration and biochemical control of prolactinoma. Learning points: Acromegaly can develop in patients with well-controlled prolactinoma on dopamine agonists. The interval between prolactinoma and acromegaly diagnoses can be several decades. Periodic screening of patients with prolactinoma for growth hormone excess should be considered and can 
lead to an early diagnosis of acromegaly before the development of complications.

Dysphagia as an Uncommon Presentation of Disseminated Tuberculosis: A Case Report

2020 ◽  
Vol 38 (3) ◽  
pp. 150-154
Author(s):  
Bimal Chandra Shil ◽  
Ranjit Kumar Banik ◽  
Shasanka Kumar Saha ◽  
Md Royes Uddin ◽  
ANM Saifullah ◽  
...  
Keyword(s):  
Case Report ◽  
Mediastinal Lymph Node ◽  
Upper Gastrointestinal Endoscopy ◽  
Uncommon Presentation ◽  
Esophageal Tissue ◽  
Lymph Node Enlargement ◽  
Hypoechoic Mass ◽  
History Of ◽  
Tuberculosis Therapy

This is a case report of a 57-year old farmer who presented with a 4 months history of dysphagia and weight loss. Upper gastrointestinal endoscopy revealed submucosal swellings with overlying ulcers at mid to lower part of esophagus. Repeated histopathological evaluation of endoscopic esophageal tissue biopsies showed nonspecific findings. Endoscopic ultrasound showed a hypoechoic mass at submucosal layer with periesophageal lymphadenopathy. Endosonogram guided FNA materials depicted caseating granulomas. Patient was managed with anti-tuberculosis therapy. Follow up endosonography after therapy revealed resolution of the growth and the mediastinal lymph node enlargement and patient was symptomatically improved. J Bangladesh Coll Phys Surg 2020; 38(3): 150-154

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