Journal of Medical Case Reports
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5861
(FIVE YEARS 2016)

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28
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Published By Springer (Biomed Central Ltd.)

1752-1947, 1752-1947

2022 ◽  
Vol 16 (1) ◽  
Author(s):  
Elvin M. Mendez

Abstract Background Allergic rhinitis is the most common allergic disease encountered in a primary care setting. Diagnosis is often made clinically based on response to empiric therapy. However, with long-term treatment failure and/or atypical disease presentation, a differential diagnosis should be considered. The following is a report of an unusual and rare presentation of a subglottic tracheal angiomyomatous hamartoma in an adolescent, treated for many years as allergic rhinoconjunctivitis and asthma. Case presentation A 12-year-old Caucasian was referred to the allergy clinic with a lifetime history of bronchospasms and rhinoconjunctivitis symptoms, treated for many years for asthma and environmental allergies. Cough, posterior nasal drainage, self-described “choking on phlegm,” and a sensation of “a flap in the throat,”, worsened 5 months prior to the initial evaluation. Puncture skin testing for common environmental allergens was negative. Spirometry, performed due to history of chronic cough, showed blunting of the forced expiratory phase. A chest X-ray, immediately ordered to rule out possible extrapulmonary obstruction, showed bilateral bibasilar infiltrates. A noncontrast computerized tomographic scan of the chest, ordered to further elucidate X-ray findings, revealed a subglottic tracheal mass. Following a subsequent transfer and admission to a tertiary hospital center, microlaryngoscopy, bronchoscopy, and microsuspension laryngoscopy were performed to remove the tracheal mass. Pathology confirmed squamous mucosa with polypoid angiomyomatous changes and chronic inflammatory features consistent with angiomyomatous hamartoma. Surgical intervention was successful, and follow-up 1 year postoperatively revealed a healthy, asymptomatic adolescent child with normal lung function. Conclusions Although posterior nasal drainage and cough are typical presenting symptoms in the general patient population, they may be clinically impactful as they could disguise more serious medical conditions. A detailed history and careful physical examination may provide a high index of suspicion of disease, and can help work the differential diagnosis. This case presentation is the first documentation of subglottic hamartoma reported in the pediatric literature with clinical manifestation of environmental allergy and asthma symptoms.


2022 ◽  
Vol 16 (1) ◽  
Author(s):  
Cempaka Thursina Srie Setyaningrum ◽  
Indra Sari Kusuma Harahap ◽  
Dian Kesumapramudya Nurputra ◽  
Irwan Taufiqur Rachman ◽  
Nur Imma Fatimah Harahap

Abstract Background Spinal muscular atrophy is a genetic disorder characterized by degeneration of lower motor neurons, leading to progressive muscular atrophy and even paralysis. Spinal muscular atrophy usually associated with a defect of the survival motor neuron 1 (SMN-1) gene. Classification of spinal muscular atrophy is based on the age of onset and maximum motor function milestone achieved. Although spinal muscular atrophy can be screened for in newborns, and even confirmed earlier genetically, this remains difficult in Third World countries such as Indonesia. Case presentation A 28-year-old Asian woman in the first trimester of her second pregnancy, was referred to the neurology department from the obstetric department. Her milestone history showed she was developmentally delayed and the ability to walk independently was reached at 26 months old. At 8 years old, she started to stumble and lose balance while walking. At this age, spinal muscular atrophy was suspected because of her clinical presentations, without any molecular genetic testing. She was married at the age of 25 years and was soon pregnant with her first child. At the gestational age of 32 weeks, her first pregnancy was ended by an emergency caesarean section because of premature rupture of the membranes. In this second pregnancy, she was referred early to the general hospital from the district hospital to receive multidisciplinary care. She and her first daughter underwent genetic testing for spinal muscular atrophy, which has been readily available in our institution since 2018, to confirm the diagnosis and prepare for genetic counseling. Conclusions Managing pregnancy in a patient with spinal muscular atrophy should be performed collaboratively. In this case, genetic testing of spinal muscular atrophy and the collaborative management of this patient allowed the clinical decision making and genetic counseling throughout her pregnancy and delivery.


2022 ◽  
Vol 16 (1) ◽  
Author(s):  
Nasel Christian ◽  
Poetsch Angelina ◽  
Brunner Cornelia ◽  
Moser Ewald

Abstract Background Fenestration of the cervical segment of the internal carotid artery is a very rare finding, and its origin is still not fully understood. Explanations of its genesis range from dissections leading to the fenestration to the more common interpretation as a developmental vascular variant. However, most reported cases were symptomatic and presented with dissections, where even endovascular treatment of the fenestration of the cervical segment of the internal carotid artery became necessary. Here we report a case of a fenestration of the cervical segment of the internal carotid artery suffering a transitory ischemic attack and local pain in absence of any sign of dissection. Case presentation A 62-year-old Caucasian male patient was admitted to our institution because of an episode of amaurosis fugax, initially accompanied with headache. Magnetic resonance imaging revealed an intact fenestration of the cervical segment of the internal carotid artery on the symptomatic side. With antiplatelet therapy, all symptoms vanished within 2 months of the initial event. Conclusions Our findings support the interpretation of a fenestration of the cervical segment of the internal carotid artery as a developmental vascular variant, but also suggest a substantial risk for dissection and ischemic stroke. Even in case of an accidental finding, clinicians should be aware of this. At least in this case, antiplatelet therapy seemed beneficial.


2022 ◽  
Vol 16 (1) ◽  
Author(s):  
Hiroaki Hashimoto ◽  
Tomoyuki Maruo ◽  
Masami Nakamura ◽  
Yukitaka Ushio ◽  
Masayuki Hirata ◽  
...  

Abstract Background Symptomatic pituitary metastasis is rare; furthermore, it can result in diabetes insipidus and panhypopituitarism. Since diabetes insipidus is masked by concurrent panhypopituitarism, it can impede the diagnosis of pituitary dysfunction. Case presentation A 68-year-old Japanese female suffering from pituitary and thalamic metastases caused by untreated breast cancer, underwent a biopsy targeting the thalamus, not the pituitary. She lacked prebiopsy pituitary dysfunction symptoms; however, these symptoms unexpectedly occurred after biopsy. Diabetes insipidus was masked by corticosteroid insufficiency, and she showed normal urinary output and plasma sodium levels. Upon commencement of glucocorticoid replacement therapy, the symptoms of diabetes insipidus appeared. Conclusions In this case, thalamic biopsy, as opposed to pituitary biopsy, was performed to preserve pituitary function. However, pituitary dysfunction could not be avoided. Caution is necessary for asymptomatic patients with pituitary metastases as invasive interventions, such as surgery, may induce pituitary dysfunction. Moreover, with respect to masked diabetes insipidus, there is a need to carefully consider pituitary dysfunction to avoid misdiagnosis and delayed treatment.


2022 ◽  
Vol 16 (1) ◽  
Author(s):  
Walaa Alshammasi ◽  
Abeer Bargawi ◽  
Aljuhara Abdulrahman ◽  
Mariam Alhaji ◽  
Fakherah AL Qahtani ◽  
...  

Abstract Background Kawasaki disease is an idiopathic medium-sized vasculitis that occurs primarily in infants and children younger than 5 years of age. Atypical Kawasaki disease applies to patients who do not fulfill the complete criteria of fever of 5 days or more with at least four of five features: bilateral conjunctival injection, changes in the lips and oral cavity, cervical lymphadenopathy, extremity changes, and polymorphous rash. Acute kidney injury is defined as a sudden decline in kidney function within hours, including structural injuries and loss of function. Acute kidney injury is extremely common in hospitalized pediatric patients. However, it is rarely documented in Kawasaki disease. Acute kidney injury is underestimated in Kawasaki disease due to the lack of a clear definition of age-specific normal serum creatinine levels and routine renal functions. This report describes a case who presented with clinical features suggestive of atypical Kawasaki disease and developed acute kidney injury. Case presentation A 2-year-old Saudi girl had a history of high-grade fever for 5 days, moderate dehydration, dry cracked lips, poor appetite, and generalized erythematous rash; therefore, she was diagnosed to have incomplete Kawasaki disease. Laboratory investigations revealed normochromic normocytic anemia, leukocytosis, thrombocytosis, high inflammatory markers, and acute kidney injury stage III. An echocardiogram showed a 4-mm dilatation on the left main coronary artery and a 3-mm dilatation on the right. A renal biopsy was not performed to identify the cause of the injury as it showed improvements after the start of the specific therapy for Kawasaki disease; intravenous immune globulin at a dose of 2 g/kg, aspirin at a high dosage of 80 mg/kg/day, and prednisolone at 2 mg/kg. In addition to the acute kidney injury management, normal saline boluses were followed by furosemide at a 2 mg/kg dose. Her urine output increased, and her renal functions normalized. She was discharged in good condition after 10 days. Conclusions It is valuable to check renal function tests in a confirmed case of Kawasaki disease to reduce the negative consequences of late acute kidney injury discovery. Early detection and intervention make a substantial difference in acute kidney injury management.


2022 ◽  
Vol 16 (1) ◽  
Author(s):  
Khalid Aligail ◽  
Joel A. Dave ◽  
Ian Louis Ross

Abstract Background Tumor-induced osteomalacia is a rare, acquired paraneoplastic syndrome, including hypophosphatemia, high serum alkaline phosphatase, reduced active vitamin D, suboptimal bone mineral density, bone pain, fragility fractures, and muscle weakness. Case presentation We report a case of 74–year–old male of mixed ancestry with hypophosphatemia resistant to treatment despite optimal compliance, associated with profound reduction of bone mineral density and multiple nontraumatic fractures, including bilateral rib fractures, lower-thoracic (T11, T12) vertebrae, and two fractures involving the surgical and anatomical neck of the right humerus. We discuss an approach to identifying the underlying cause of hypophosphatemia associated with fragility fractures, and options for management of this rare condition. Conclusion Although rare, tumor-induced osteomalacia can be diagnosed if a logical stepwise approach is implemented. Surgery could be curative if the tumor is properly located and is resectable.


2022 ◽  
Vol 16 (1) ◽  
Author(s):  
Mohammad Barzegar ◽  
Fatemeh Valaee ◽  
Shadi Ghoreishizadeh

Abstract Background Niemann–Pick is a rare metabolic disease distinguished by lysosomal storage defects. This disease is characterized by sphingomyelinase acid deficiency, causing its accumulation in various organs such as the kidneys, spleen, liver, brain, and nerves. Niemann–Pick disease is categorized into four groups: A, B, C, and D. Peripheral neuropathy is an extremely rare complication in patients with Niemann–Pick type C, which certainly leads to neurologic deterioration. Case presentation We report a case of Niemann–Pick type C disease in a 3-year-old Iranian Azeri female patient who was hospitalized twice. The first time was at 1 month of age with symptoms of splenomegaly, jaundice, and elevated liver enzymes, and the second time was at around age 2 for loss of mental and physical abilities. The patient presented with failure to thrive. According to paraclinical examinations, mildly delayed myelination along with a nonspecific periventricular hypersignal intensity was seen. Interestingly, the patient’s Niemann–Pick type C enzymatic function was evaluated twice and was negative on both occasions, while she was positive for NPC1 and NPC2 gene examinations. Conclusions In this study, despite the enzymatic study being negative, Niemann–Pick type C disease was finally confirmed, revealing the importance of mutations in Niemann–Pick type C pathogenesis. Besides, peripheral neuropathy was diagnosed in this patient as a very rare symptom of Niemann–Pick type C.


2022 ◽  
Vol 16 (1) ◽  
Author(s):  
Chutima Kunacheewa ◽  
Sattawut Wongwiangjunt ◽  
Sanya Sukpanichnant

Abstract Background Cervical thymoma is a rare thymic epithelial neoplasm. Evidence supports an increased risk of second primary malignancies in patients with thymoma. We report a rare case of a patient with synchronous cervical thymoma and diffuse large B-cell lymphoma. Case presentation An 81-year-old Thai woman was referred for further treatment of diffuse large B-cell lymphoma at Siriraj Hospital, Bangkok, Thailand. While waiting for a review of the original pathological examination of a mass in the left neck and a mass in the left arm, the attending physician noticed ptosis of the upper eyelids, which was proven to be caused by myasthenia gravis. The final pathology review confirmed that the arm mass was diffuse large B-cell lymphoma, but the neck mass was cervical thymoma, type B1, not diffuse large B-cell lymphoma. Interestingly, the patient reported that the arm mass had been present for 2 years, while the neck mass had grown rapidly in the past month. A diagnostic challenge had arisen when the initial morphological evaluation was not performed with care, causing the first pathologist to misinterpret that the neoplastic cells in both masses were the same. Conclusion Concurrent cervical thymoma and diffuse large B-cell lymphoma were proven after a careful pathology review, leading to better clinical management.


2022 ◽  
Vol 16 (1) ◽  
Author(s):  
K. D. Tiver ◽  
D. Dharmaprani ◽  
J. X. Quah ◽  
A. Lahiri ◽  
K. E. Waddell-Smith ◽  
...  

Abstract Background Acquired long QT syndrome is an important and preventable cause of cardiac arrest. Certain medications and electrolyte disturbance are common contributors, and often coexist. In this case, we report five contributors to cardiac arrest. Case presentation This case is of a 51-year-old Caucasian female patient who presented with vomiting associated with hypokalemia and hypomagnesemia. She subsequently received ondansetron and metoclopramide, on the background of chronic treatment with fluoxetine. She then suffered an in-hospital monitored cardiac arrest, with features of long QT and torsades de pointes retrospectively noted on her prearrest electrocardiogram. She was diagnosed with acquired long QT syndrome, and her QT interval later normalized after removal of offending causes. Conclusions This case highlights the importance of proper consideration prior to prescribing QT prolonging medications, especially in patients who have other risk factors for prolonged QT, such as electrolyte disturbances and pretreatment with QT prolonging medications.


2022 ◽  
Vol 16 (1) ◽  
Author(s):  
Andrea Giorni ◽  
Terry Coyne ◽  
Peter A. Silburn ◽  
George D. Mellick ◽  
Pankaj Sah ◽  
...  

Abstract Background The globus pallidus internus is the main target for the treatment of dystonia by deep brain stimulation. Unfortunately, for some genetic etiologies, the therapeutic outcome of dystonia is less predictable. In particular, therapeutic outcomes for deep brain stimulation in craniocervical and orolaryngeal dystonia in DYT6-positive patients are poor. Little is known about the neurophysiology of the globus pallidus internus in DYT6-positive dystonia, and how symptomatic treatment affects the neural activity of this region. Case presentation We present here the case of a 55-year-old Caucasian female DYT6-dystonic patient with blepharospasm, spasmodic dysphonia, and oromandibular dystonia where single-unit and local field potential activity was recorded from the globus pallidus internus during two deep brain stimulation revision surgeries 4 years apart with no symptomatic improvement. Botulinum toxin injections consistently improved dysphonia, while some of the other symptoms were only inconsistently or marginally improved. Neural activity in the globus pallidus internus during both revision surgeries were compared with previously published results from an idiopathic dystonic cohort. Single-cell firing characteristics and local field potential from the first revision surgery showed no differences with our control group. However, during the second revision surgery, the mean firing rate of single units and local field potential power in the gamma range were lower than those present during the first revision surgery or the control group. Conclusions Symptoms related to facial movements were greatly improved by botulinum toxin treatment between revision surgeries, which coincided with lower discharge rate and changes in gamma local field oscillations.


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