Rare Cause Research Articles

Epithelioid sarcoma: a rare cause of refractory chronic skin ulcers.

We report two cases of chronic skin ulcers that were misdiagnosed as skin and soft tissue infections and inflammatory myofibroblastic tumor before the final diagnosis of epithelioid sarcoma at our institution. We believe that our coverage of this rare but fatal tumor that can cause chronic skin ulcers is critical, as early diagnosis and treatment can reduce morbidity and mortality.

Ileosigmoid knotting: A rare cause of acute intestinal obstruction and peritonitis

Introduction: Ileosigmoid knotting (ISK) is one of the rarer causes of bowel obstruction compared to others. This is also called compound volvulus or double loop obstruction. The presentation symptoms are similar to those of other large bowel or distal intestinal obstructions. But the pathogeny’s or disease’s progression is rapid. So the patient develops ischemia or strangulation of the involved segment of the bowel earlier than the sigmoid or ceal volvulus. One of the challenges of the disease is that, especially in low-income countries like ours, there is no access to contrast computed tomography (CT), which is more sensitive diagnostic imaging. Case Report: A 58-year-old male patient presented to our hospital with abdominal pain for two days. He was referred from the primary hospital. The pain was initially central and later diffused to other parts of the abdomen. Associated with this, he was vomiting of ingested matter for more than two episodes. On physical examinations, he was in acute pain, and his vital signs showed a pulse rate of tachycardia at 127 BPM. On abdominal examination, he had distention and diffused tenderness with gardening. So we diagnosed him with peritonitis secondary to gangrenous sigmoid volvulus obstruction (SVO). So I chose the imaging that is available in our hospital, a plain abdominal X-ray. So the patient was resuscitated with normal saline, an antibiotic was initiated, and he was taken to the operation after giving consent. The ilium and sigmoid colon were gangrened and en bloc resection was done, and the jejunum and remaining 7 cm of ilium from the ileocecal valve were anastomosed. The patient was taken to or for a relook, and the anastomosis was disrupted, then refreshed, and both the proximal and distal segments were taken out as stomas. The output was significant and later developed a controlled entrocutaneous fistula, which was closed after three weeks. Conclusion: The prognosis is poor for ISK compared to other common types of volvulus and worse prognosis challenging management in conditions with both active and passive bowel ischemia which happened to our patients. Diagnosis is also challenging before the surgery. The abdominal X-ray and ultrasound are available and commonly the surgeon commonly will not send for this unless the patient is stable. Blind rectal tube deflation the common intervention in our setup with no access for sigmoidoscopy is not indicated for this non-surgical initial management rather with a highly suspicious diagnosis early resuscitation with early surgical treatment.

Computed tomographyScan Size Analysis of stapedius and tensor tympani muscles in middle ear myoclonic tinnitus.

To analyze the sizes of the stapedius and tensor tympani (TT) muscles using a temporal bone CT (TBCT) scan in patients with middle ear myoclonic tinnitus (MEMT) and investigate their value for the diagnosis of this rare cause of tinnitus. Medical records and TBCT of patients with MEMT or vascular tinnitus (VT) at Seoul St. Mary's Hospital from January 2012 to December 2022 were reviewed. The stapedius and TT muscles were analyzed. Thirty-eight patients with unilateral MEMT and 39 patients with VT were included. More males were in the MEMT group compared to the VT group (MEMT: n = 24, VT: n = 8, p = .001). The mean age of the MEMT group was younger compared to the VT group (MEMT: 35 ± 12 years, VT: 44 ± 14.3 years, p = .005). The mean BMI for the MEMT group was less than the VT group (MEMT: 22.3 ± 2.5, VT: 24.8 ± 4.36, p = .010). The mean length and width of the stapedius in the MEMT group were larger than those of the VT group (Length MEMT: 1.47 ± 0.60 mm, VT: 0.98 ± 0.24 mm, p = .001; Width MEMT: 0.89 ± 0.32 mm, VT: 0.72 ± 0.19 mm, p = .009). The mean length and width of the TT in the MEMT group were larger than that of the VT group (Length MEMT: 3.10 ± 0.50 mm, VT: 2.27 ± 0.42, p = .001; Width MEMT: 2.02 ± 0.36, VT: 1.75 ± 0.26 p = .001). The mean length and width of the stapedius and TT muscles measured in the MEMT group were longer and wider than the VT group. This suggests the use TBCT scan as a diagnostic tool for MEMT. Further studies with a larger study group to validate the results of this study are recommended.Level of Evidence: 4.

Rare Combined Congenital Pulmonary and Cardiovascular Malformations Revealed by Acute Hemoptysis

Background. Lung sequestration is a subtype of congenital lung malformations; it is infrequently diagnosed in adults and is a rare cause of hemoptysis. The typical management of symptomatic lung sequestration is usually surgical, though intra-arterial embolization is becoming an acceptable alternative. Case Presentation. We report a case of a 36-year-old female patient who presented for an acute onset of hemoptysis. CT chest showed an intralobar sequestration of the right lower lobe lung segment. In addition to the sequestration, the chest imaging also revealed a number of associated abnormalities including double superior vena cava communicating through a bridge, absence of brachiocephalic venous trunk, cardiac dextroposition, and agenesis of the right middle lobe. Outcome and Discussion. The transarterial embolization was selected for being mini-invasive and effective. It successfully controlled the bleed and led to complete regression of the sequestered lung on the follow-up CT chest several months later. Conclusion. Successful management and complete regression are possible with mini-invasive intra-arterial embolization of lung sequestration. Although it is not uncommon to have associated congenital cardiopulmonary abnormalities with lung sequestration, however the exceptional abnormalities described in this case have never been reported before.

A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency

AbstractCarbonic anhydrase VA (CA‐VA) deficiency is a rare cause of hyperammonemia caused by biallelic mutations in CA5A. Most patients present with hyperammonemic encephalopathy in early infancy to early childhood, and patients usually have no further recurrence of hyperammonemia with a favorable outcome. This retrospective cohort study reports 18 patients with CA‐VA deficiency caused by homozygosity for a founder mutation, c.59G>A p.(Trp20*) in CA5A. The reported patients show significant intrafamilial and interfamilial variability, and display atypical clinical features. Two adult patients were asymptomatic, 7/18 patients had recurrent hyperammonemia, 7/18 patients developed variable degree of developmental delay, 9/11 patients had hyperCKemia, and 7/18 patients had failure to thrive. Microcephaly was seen in three patients and one patient developed a metabolic stroke. The same variant had been reported already in a single South Asian patient presenting with neonatal hyperammonemic encephalopathy and subsequent development of seizures and developmental delay. This report highlights the limitations of current understanding of the pathomechanisms involved in this disorder, and calls for further evaluation of the possible role of genetic modifiers in this condition.

Plasmacytoid urothelial carcinoma: a rare cause of localized lymphedema

Localized lymphedema of the genital region is arare medical condition. It is named primary lymphedema if caused by acongenital malformation of the lymphatic system. Secondary lymphedemas might be induced by exogenous damage to lymphatic vessels as aresult of surgical interventions, obesity, filariasis, radiotherapy or malignancy. We report acase of localized lymphedema of the genial region for which apreviously unknown urothelial carcinoma turned out to be the underlying cause.

Extravertebral low back pain: a scoping review

BackgroundLow back pain (LBP) is one of the most common reasons for consultation in general practice. Currently, LBP is categorised into specific and non-specific causes. However, extravertebral causes, such as abdominal aortic aneurysm or pancreatitis, are not being considered.MethodsA systematic literature search was performed across MEDLINE, Embase, and the Cochrane library, complemented by a handsearch. Studies conducted between 1 January 2001 and 31 December 2020, where LBP was the main symptom, were included.ResultsThe literature search identified 6040 studies, from which duplicates were removed, leaving 4105 studies for title and abstract screening. Subsequently, 265 publications were selected for inclusion, with an additional 197 publications identified through the handsearch. The majority of the studies were case reports and case series, predominantly originating from specialised care settings. A clear distinction between vertebral or rare causes of LBP was not always possible. A range of diseases were identified as potential extravertebral causes of LBP, encompassing gynaecological, urological, vascular, systemic, and gastrointestinal diseases. Notably, guidelines exhibited inconsistencies in addressing extravertebral causes.DiscussionPrior to this review, there has been no systematic investigation into extravertebral causes of LBP. Although these causes are rare, the absence of robust and reliable epidemiological data hinders a comprehensive understanding, as well as the lack of standardised protocols, which contributes to a lack of accurate description of indicative symptoms. While there are certain disease-specific characteristics, such as non-mechanical or cyclical LBP, and atypical accompanying symptoms like fever, abdominal pain, or leg swelling, that may suggest extravertebral causes, it is important to recognise that these features are not universally present in every patient.ConclusionThe differential diagnosis of extravertebral LBP is extensive with relatively low prevalence rates dependent on the clinical setting. Clinicians should maintain a high index of suspicion for extravertebral aetiologies, especially in patients presenting with atypical accompanying symptoms.

Spinal dural arteriovenous fistula: a case-based review

Spinal dural arteriovenous fistula is an abnormal connection between radicular arteries and spinal venous plexus. This condition is relatively rare with annual incidence of five-ten cases per million. We present a case of a 62-year-old male with complaints of tingling in feet since six months and weakness in legs since 1 hour. Lower limb weakness progressed over a day to complete paralysis and bladder incontinence. Magnetic resonance imaging (MRI) spine showed a dural hypointensity over D6-D11 with abnormal vessels around spinal cord. Patient underwent spinal angiography which showed an intramedullary arteriovenous malformation causing compression. Arterial embolization was done within 24 hours from symptom onset and he ambulated within a week. AV malformations are a rare cause of compressive myelopathy presenting with acute paraplegia. Advances in endovascular techniques have made it possible to treat them early and prevent irreversible damage.

Anticoagulants versus Antiplatelet Treatment in the Medical Management of Carotid Floating Thrombus

Carotid free-floating thrombus (CFT) is a rare cause of stroke describing an intraluminal thrombus that is loosely associated with the arterial wall and manifesting as a filling defect fully surrounded by flow on vascular imaging. Unfortunately, there is no clear consensus among experts on the ideal treatment for this pathology. Retrospective analysis of acute ischemic stroke (AIS) and transient ischemic attack (TIA) patients diagnosed with CFT on computed tomography angiogram (CTA) between January 2015-March 2023. We aimed to compare two treatment regimens: anticoagulation (ACT) and antiplatelet (APT) in the treatment of CFT. APT regimens included the use of dual or single antiplatelets (DAPT or SAPT; aspirin, clopidogrel and ticagrelor) and ACT regimens included the use of direct oral anticoagulants, warfarin, heparin or low molecular weight heparin +/- ASA. Patients that underwent mechanical thrombectomy were excluded. During study time there were 8252 acute ischemic stroke hospitalizations, of which 135 (1.63%) patients were diagnosed with CFT. Sixty-six patients were included in our analysis. Patients assigned to APT were older (60.41years ± 12.82;p<0.01). Other demographic variables were similar between ACT and APT groups. Complete CFT resolution on repeat vascular imaging was numerically higher at 30 days (58.8 vs 31.6%, respectively; p=0.1) and at latest follow-up (70.8 vs 50%; p=0.1) on ACT vs APT, respectively without reaching statistical significance. Similarly, there was numerically higher rates of any ICH with ACT compared to APT but it did not achieve statistical significance (27.6% vs 13.5%; p=0.5). There were similar rates of PH1/2 hemorrhagic transformation, independence at discharge and similar hospital length of stay between ACT and APT groups. Patients assigned to APT were more likely to be discharged on their assigned treatment compared to those assigned to ACT (86.5 vs 55.2%; p<0.001). The rate of 30-day recurrent stroke was comparable among ACT and APT at 30 days (3.4 vs 0%; p=0.1, respectively). Sensitivity analysis comparing exclusive ACT vs Dual APT lead to similar results. Our study showed comparable efficacy and safety outcomes in CFT patients who were exclusively managed medically with ACT vs APT. Larger prospective studies are needed.

Bilateral adrenal haemorrhage secondary to heparin induced thrombocytopenia- a rare cause and presentation of adrenal crisis

Bilateral adrenal haemorrhage secondary to heparin induced thrombocytopenia- a rare cause and presentation of adrenal crisis

Epiglottis calcification: forgotten cause of dysphagia in elderly population

BackgroundDysphagia is a relatively common clinical issue in elderly population with numerous causes, which are divided into oropharyngeal and substernal categories. Most of the causes of dysphagia can be diagnosed easily with clinical and radiological examinations. However, we encountered a rare cause of dysphagia in an elderly patient, which can be missed easily during diagnostic workup, that entity is epiglottis calcification.Case presentationA 91-year-old male presented with complaints of recurrent aspirations and difficulty in swallowing. Physical examination revealed no abnormalities in the oral cavity, pharynx and nose. Flexible fiberoptic laryngoscopic examination was performed, which mildly swollen and posteriorly moved epiglottis with limited mobility during swallowing. Computed tomography scan of the larynx revealed significant asymmetric amorphous calcification of the free edge of the aryepiglottic, pharyngoepiglottic, and epiglottis folds.ConclusionsAlthough dysphagia is a common problem in elderly, it has serious complications such as recurrent aspirations, pneumonia and nutritional deficiency. One of the rare causes of dysphagia in elderly is epiglottic calcifications, which impairs its flexibility and the functionality, and may predispose to difficulty in swallowing and recurrent aspirations.

Persistent intracranial steno-occlusion from calcified embolism: a treatment challenge.

Calcified arterial cerebral embolism is a rare occurrence among large and medium vessel occlusions causing ischemic stroke and its diagnosis and treatment is a challenge. The sources of calcified embolism might be a calcific atheroma from the aortic arch and carotid artery, but also heart valve disease has been reported in the literature. Calcified embolism is frequently simultaneous on multiple vascular territories. The prognosis of patients is usually poor, including patients treated by using endovascular thrombectomy (EVT) and this diagnosis could be easily missed in the acute phase. In addition, the optimal secondary prevention has not been yet fully stated. We are presenting two cases of acute stroke due to calcified embolism in the middle cerebral artery (MCA) coming from a complicated carotid atheroma, non-stenosing in the first case (a 49years old man) and stenosing in the second case (a 71years old man) without clinical indications to intravenous thrombolysis and/or EVT, extensively investigated in the acute phase and followed-up for over 12months with a favorable clinical course and the persisting steno-occlusion in the involved MCA. In both cases, antiplatelet treatment and targeting of vascular risk factors were done without recurrences in the follow-up period. Cerebral calcified embolism has been reported in 5.9% of cases of acute ischemic stroke in a single center series and only in 1.2% of a large retrospective cohort of EVT-treated patients. In both series the prognosis was poor and only one third of EVT-treated patients had functional independence at 3-months follow-up. The natural history of these subtype of ischemic stroke is relatively poorly understood and both etiological diagnosis and treatment have not yet defined. It is possible that some cases might be underdiagnosed and underreported. Calcified cerebral embolism is a rare cause of stroke, but it is largely underreported and both acute phase and secondary preventive treatment have to be defined.

Marine-lenhart syndrome: a rare cause of hyperthyroidism

Marine-lenhart syndrome: a rare cause of hyperthyroidism

A rare cause of hyperthyroidism in hashimoto disease

A rare cause of hyperthyroidism in hashimoto disease

A rare cause of glucosuria and aminoaciduria in a patient with well-controlled diabetes mellitus

A rare cause of glucosuria and aminoaciduria in a patient with well-controlled diabetes mellitus

Case Report: Popliteal artery entrapment syndrome as a cause of deep vein thrombosis and subsequent popliteal artery occlusion

Case Report: Popliteal artery entrapment syndrome as a cause of deep vein thrombosis and subsequent popliteal artery occlusion

A rare cause of type B insulin resistance presenting after delivery

A rare cause of type B insulin resistance presenting after delivery

A rare cause of acromegaly due to ectopic secretion of growth hormone

A rare cause of acromegaly due to ectopic secretion of growth hormone

A zebra among horses - testotoxicosis as a rare cause of peripheral precocious puberty

A zebra among horses - testotoxicosis as a rare cause of peripheral precocious puberty

A rare cause of gonadotropic insufficiency

A rare cause of gonadotropic insufficiency