scholarly journals Idiopathic Hypoparathyroidism: Still a Diagnostic Conundrum – A Tertiary Centre Experience

2020 ◽  
Vol 52 (10) ◽  
pp. 708-711
Author(s):  
Rujul Jain ◽  
S. K. Singh ◽  
N. K. Agrawal

AbstractIdiopathic hypoparathyroidism leads to hypocalcemia and hyperphosphatasemia and usually has a genetic aetiology. The variable but often subtle signs and symptoms usually lead to a misdiagnosis of hypoparathyroidism. Case records of 32 patients of idiopathic hypoparathyroidism admitted over a period of five years were analysed. There was a lag period of 5.94 years from the onset of symptoms to the diagnosis. Carpopedal spasm was the most common indication for admission to the hospital. Trivial symptoms such as fatigue (84%) and paresthesia (62.5%) were the most common reported symptoms. A sum of 46.5% of the patients were on antiepileptic drugs before the correct diagnosis of hypoparathyroidism was made. This observation emphasized that Calcium profile should be obtained in patients with history of paresthesia and seizure to avoid the long delay in diagnosis of hypoparathyroidism.

Author(s):  
Ellahe Azizlou ◽  
Mohsen AminSobhani ◽  
Sholeh Ghabraei ◽  
Mehrfam Khoshkhounejad ◽  
Abdollah Ghorbanzadeh ◽  
...  

Extraoral sinus tracts of odontogenic origin often develop as the result of misdiagnosis of persistent dental infections due to trauma, caries, or periodontal disease. Due to these lesions' imitation from cutaneous lesions, misdiagnosis, and mismanagement, which we frequently encounter, this article aims to describe four cases with manifestations in different parts of the face and the neck. Patients were referred to an endodontist with a history of several surgical procedures and/or antibiotic therapy due to misdiagnosis. After comprehensive examinations, root canal treatment was performed. The resolution of signs and symptoms during the follow-up period confirmed the correct diagnosis. Dermatologists and other physicians should be aware of the possibility of the relationship of extraoral sinus tracts with dental infections. Precise examination and taking a comprehensive history can aid to prevent unnecessary and incorrect therapeutic and/or pharmaceutical interventions. Elimination of dental infection leads to complete recovery in such patients.


Blood ◽  
2006 ◽  
Vol 108 (8) ◽  
pp. 2520-2530 ◽  
Author(s):  
Giampaolo Merlini ◽  
Marvin J. Stone

AbstractThe detection of a monoclonal immunoglobulin in serum or urine usually raises concerns about the size of the underlying B-cell-derived clone and possible systemic effects caused by its expansion. However, a small clone can synthesize a very toxic protein, producing devastating systemic damage and protean clinical presentations. The resulting “monoclonal component-related diseases,” although difficult to diagnose, may be progressive and even fatal. The monoclonal protein can aggregate and deposit systemically as occurs in light-chain amyloidosis, monoclonal immunoglobulin deposition disease, crystal-storing histiocytosis, and monoclonal cryoglobulinemia. Alternatively, some monoclonal proteins possess antibody activity toward autogenous antigens and cause chronic cold agglutinin disease, mixed cryoglobulinemia, and peripheral neuropathies. Other humoral mediators may contribute to neuropathy in variant disorders such as the POEMS (polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes) syndrome. The clone synthesizing the noxious monoclonal proteins is often small, and sensitive techniques may be required to detect these immunoglobulins. A delay in diagnosis can allow irreversible organ damage and dramatically shorten survival. Prompt recognition of suggestive signs and symptoms should trigger a thorough diagnostic approach to reach the correct diagnosis quickly, because this is the key to effective therapy. Although the treatment of these conditions is not optimal, significant advances have been made, improving the duration and quality of life.


2020 ◽  
Vol 4 (3) ◽  

Eagle’s Syndrome is a rare condition with unknown etiology that mainly affects female patients between the third and sixth decade of life. It was first described in 1937 by Dr. Watt W. Eagle, in a study carried out in a group of patients whose main symptom was cervicopharyngeal pain caused by elongation of the styloid process and/or calcification of the stylohyoid ligament [1]. The diagnosis of this pathology is based on the anamnesis and physical examination together with imaging exams of the patients. Cervicofacial pain, palpation of the styloid process in the tonsillar fossa and limitation in neck mobility are the most classic signs and symptoms of this disease [2]. Due to the nonspecific symptoms present in these patients, this disease is usually underdiagnosed and confused with temporomandibular disorders, cervical myalgias, and even being diagnosed as atypical trigeminal neuralgias [3]. For this reason, clinical examination and imaging exams, are indispensable for the correct diagnosis and evaluation of anatomical structures [3]. We present a case of a woman with a history of eagle syndrome which was diagnosed and treated at the Hospital clinico metropolitano El Carmen Santiago, Chile.


1987 ◽  
Vol 5 (4) ◽  
pp. 667-671 ◽  
Author(s):  
R Goodkin ◽  
B I Carr ◽  
R G Perrin

Six patients with cancer presented with signs and symptoms of a lumbar herniated disc syndrome due to a herniated lumbar disc. The differential diagnosis and literature are reviewed. In four of the six, the patients' complaints were attributed to the malignancy, with delay in diagnosis and institution of appropriate therapy. In two of the patients, treatment was administered for presumed spinal metastasis with radiation therapy and/or chemotherapy with castration before the correct diagnosis was made. Surgery was performed on all six patients confirming the diagnosis of a herniated lumbar disc at the involved level and relieving the patients' pain.


2017 ◽  
Vol 10 (2) ◽  
pp. 91-92
Author(s):  
Sima Das ◽  
Nishi Gupta ◽  
Neeraj Chawla

ABSTRACT Aim To highlight canaliculitis masquerading as chronic dacryocystitis that may mislead a rhinologist. Background Canaliculitis is an inflammation of the lacrimal canaliculi caused by infection or as a complication of punctal plug insertion. It is often misdiagnosed, leading to a delay in diagnosis. Case report We report a case of a 20-year-old female patient who presented with complaints of watering from left eye since 1 year and was referred to the Department of Ear, Nose, and Throat for endoscopic dacryocystorhinostomy (DCR). She had a history of silicone punctal plug insertion in the same eye for “dry eye” following an attack of herpes zoster 12 years earlier. She was asymptomatic for 10 years following punctal plug insertion, but started complaining of epiphora since the last 2 years. Punctal plug was removed 1 year back by an ophthalmologist but the epiphora persisted. Regurgitation of purulent discharge on pressure over lacrimal sac area made it look like dacryocystitis. Syringing through lower punctum was blocked while through the upper punctum it was patent. Thus, possibility of nasolacrimal duct block was ruled out. An occuloplasty opinion was sought and a diagnosis of lower canaliculitis with possibility of retained plug was made. Conclusion Canaliculitis should be considered as a differential diagnosis in cases presenting with epiphora as canaliculitis is a close masquerade of dacryocystitis. Clinical significance As more and more rhinologists are getting direct referrals of cases needing endoscopic DCRs, it is important for them to be well aware of other associated pathologies of proximal lacrimal system. This will help them to reach a correct diagnosis before going ahead with endoscopic DCR. How to cite this article Gupta N, Das S, Chawla N. Canaliculitis masquerading as Dacryocystitis: Rhinologist's Dilemma. Clin Rhinol An Int J 2017;10(2):91-92.


PEDIATRICS ◽  
1977 ◽  
Vol 60 (4) ◽  
pp. 638-641
Author(s):  
Martin B. Kleiman ◽  
Dianne S. Elfenbein ◽  
Ellen L. Wolf ◽  
Michael Hemphill ◽  
J. Parker Kurlinski

Bone lesions resulting from embedded plant thorns or wooden splinters have been reported,1-7 though rarely. Despite the fact that the majority of cases have occurred in children, no description appears in the English pediatric literature. We have recently seen a child with an osteomyelitis-like lesion in whom, after a considerable delay in diagnosis, an embedded wood fragment was found. A search of the literature revealed a striking similarity in the presenting signs and symptoms of our patient to those described, prompting this report and literature review. CASE REPORT A 12-year-old boy was admitted to the pediatric service with a two-week history of swelling and erythema of the dorsum of the left foot.


2006 ◽  
Vol 58 (suppl_1) ◽  
pp. ONS-76-ONS-82 ◽  
Author(s):  
Matthieu Vinchon ◽  
Marc Baroncini ◽  
Thines Laurent ◽  
Dhellemmes Patrick

Abstract OBJECTIVE: The peritoneum is the preferred site for insertion of shunts used for the treatment of hydrocephalus. Bowel perforation by peritoneal catheters (BPPC) is a rare but devastating complication. Its pathophysiology, diagnosis, and treatment are debated. METHODS: Retrospective review of cases of BPPC in a series of 1956 patients having a peritoneal catheter followed up for a mean duration of 10.0 years. RESULTS: Nineteen observations of BPPC, representing 1.0% of the total series. Nine of 19 patients were nonambulatory, and nine of 19 had a previous history of meningeal infection. At the time of diagnosis, only three of the 19 patients had anal extrusion of the catheter, 14 had fever, nine had abdominal signs and symptoms, and six had cutaneous signs of infection. Radiological investigations were often negative or inconclusive. In seven of the patients, the initial diagnosis was shunt failure, and BPPC was diagnosed only during shunt revision. Once the correct diagnosis was made, the treatment was total shunt removal, external drainage, and antibiotic therapy for 2 weeks. Three patients, all severely impaired before BPPC, died, one of meningeal sepsis, the others of multiorgan failure related to spastic tetraparesis. Three were considered shunt-independent, two had a ventriculoatrial shunt, and the others had a new shunt with a peritoneal catheter without complication. CONCLUSION: BPPC is a neurosurgical emergency. Anal extrusion is present in only a minority of patients; the diagnosis of BPPC is often difficult, delayed, and its incidence is likely underestimated. The majority of patients can be treated with a new peritoneal shunt after cure of the infection.


2020 ◽  
Vol 5 (3 And 4) ◽  
pp. 155-160
Author(s):  
Mohsen Aghapoor ◽  
◽  
Babak Alijani Alijani ◽  
Mahsa Pakseresht-Mogharab ◽  
◽  
...  

Background and Importance: Spondylodiscitis is an inflammatory disease of the body of one or more vertebrae and intervertebral disc. The fungal etiology of this disease is rare, particularly in patients without immunodeficiency. Delay in diagnosis and treatment of this disease can lead to complications and even death. Case Presentation: A 63-year-old diabetic female patient, who had a history of spinal surgery and complaining radicular lumbar pain in both lower limbs with a probable diagnosis of spondylodiscitis, underwent partial L2 and complete L3 and L4 corpectomy and fusion. As a result of pathology from tissue biopsy specimen, Aspergillus fungi were observed. There was no evidence of immunodeficiency in the patient. The patient was treated with Itraconazole 100 mg twice a day for two months. Pain, neurological symptom, and laboratory tests improved. Conclusion: The debridement surgery coupled with antifungal drugs can lead to the best therapeutic results.


2020 ◽  
Vol 13 (12) ◽  
pp. e236855
Author(s):  
Wendy Chang ◽  
Patricia Renaut ◽  
Casper Pretorius

Juvenile polyposis syndrome (JPS) and hereditary haemorrhagic telangiectasia (HHT) are rare autosomal dominant diseases, where symptoms manifest at childhood. A 32-year-old man with no family history of JPS or HHT with SMAD4 gene mutation who developed signs and symptoms only at the age of 32, when he was an adult. In this article, we highlight the steps taken to diagnose this rare pathology, explain its pathophysiology and management.


2021 ◽  
Vol 51 (1) ◽  
pp. 10-15
Author(s):  
Kenneth V Iserson ◽  
Sri Devi Jagjit ◽  
Balram Doodnauth

Acute thoracic aortic dissection is an uncommon, although not rare, life-threatening condition. With protean signs and symptoms that often suggest more common cardiac or pulmonary conditions, it can be difficult to diagnose. Ultrasound has proven useful in making the correct diagnosis. This case demonstrates that training gained using standard ultrasound machines can be easily and successfully adapted to newer handheld ultrasound devices. The examination technique using the handheld device is illustrated with photos and a video.


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