journal
https://read.qxmd.com/read/38631813/novel-genetic-variant-in-hereditary-spastic-paraparesis
#21
JOURNAL ARTICLE
Kathryn A W Knight, Catriona Barbour-Hastie, Angus Gane, Jonathan O'Riordan
A man in his 30s was referred to neurology with right-sided paraesthesia, tremors, chest pain and lower urinary tract and erectile dysfunction. He had a medical history of left acetabular dysplasia, and subjective memory impairment, the latter being in the context of depression and chronic pain with opioid use. There was no notable family history. On examination, he had a spastic paraparesis. Imaging revealed atrophy of the thoracic spine. Lumbar puncture demonstrated a raised protein but other constituents were normal, including no presence of oligoclonal bands...
April 17, 2024: BMJ Case Reports
https://read.qxmd.com/read/38631812/heyde-s-syndrome-a-challenging-case-of-severe-aortic-stenosis-and-gastrointestinal-bleeding
#22
JOURNAL ARTICLE
Mohamed Abouzid, Ahmed Abdelhakeem, Shorouk Elshafie, Ahmad Ghorab
We present the case of an elderly man with a history of diastolic congestive heart failure, severe aortic stenosis and atrial fibrillation, who presented with fatigue, weakness, coffee ground emesis and black tarry stool. Haemoglobin was 68 g/L. Lactate dehydrogenase was elevated at 1038. Evaluation by cardiology and gastroenterology specialists revealed reflux oesophagitis and a mild hiatal hernia on oesophagogastroduodenoscopy, normal colonoscopy and small bowel series without obstruction. Capsule endoscopy identified angiodysplasia in the small intestine...
April 17, 2024: BMJ Case Reports
https://read.qxmd.com/read/38627058/fertility-sparing-approach-in-concurrent-gliomatosis-peritonei-and-growing-teratoma-syndrome-in-a-young-woman
#23
JOURNAL ARTICLE
Siti Nawwal Ahmad Nasfy, Habibah Abdul Hamid, Azalea Md Khairuddin, Maryam Kameelah Mohamad Fauzi
Gliomatosis peritonei (GP) and Growing Teratoma Syndrome (GTS) are rare and clinically significant conditions often associated with ovarian teratomas. GP involves the development of benign glial implants on the peritoneal surface, while GTS is characterised by the growth of benign, yet enlarging peritoneal implants following chemotherapy for malignant germ cell tumours. These implants are typically histologically mature teratomas devoid of malignancy. Our report documents a unique case where both GP and GTS manifested in a patient undergoing treatment for an immature ovarian teratoma...
April 16, 2024: BMJ Case Reports
https://read.qxmd.com/read/38627057/clinicoradiological-features-of-probable-chronic-lymphocytic-inflammation-with-pontine-perivascular-enhancement-responsive-to-steroids-clippers-syndrome
#24
JOURNAL ARTICLE
Deepa Susan John, Shreyas Reddy Kankara, Sunitha Palasamudram Kumaran, Adnan Sarfaraz Hussain
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a recently described chronic inflammatory central nervous system disease. This case report describes a young female patient presenting with weakness in bilateral upper and lower limbs and tinnitus for 2 months. A neurological examination revealed signs of brainstem and cerebellar involvement. MRI brain showed characteristic features of CLIPPERS, with punctate and nodular enhancement in the pons and cerebellum...
April 16, 2024: BMJ Case Reports
https://read.qxmd.com/read/38627056/tele-icu-enabled-management-of-an-organ-donor-in-an-under-resourced-setting
#25
JOURNAL ARTICLE
Prudhvi Dasari, Maheeja Reddy, Dileep Singh Parmar, Carl Britto
A man in his 30s was involved in a road traffic crash in a small town in India, not equipped to deal with cases of brainstem death. He was declared brain-dead after a few hours. The patient's information was forwarded to organ specialists across the country, with the goal of preserving the patient's organs for donation via a tele-ICU model. The team comprising bedside doctors and remote intensivists communicating via an indigenously developed tele-ICU platform managed the patient for 24 hours, following treatment protocols and providing critical care to ensure that the patient's vital organs were optimally perfused...
April 16, 2024: BMJ Case Reports
https://read.qxmd.com/read/38627055/acute-diverticulitis-of-the-appendix
#26
JOURNAL ARTICLE
Ahmed Abdelrahim, Yusuf Yusuf, Omer Ali, Haytham Abudeeb
Acute diverticulitis of the appendix (ADA), though uncommon, often presents similarly to acute appendicitis but carries a higher risk of complications such as perforation and malignancy. We report the case of a male patient in his 50s with acute right iliac fossa abdominal pain, diagnosed via CT scan with ADA. Urgent laparoscopic appendicectomy was performed, and the patient was discharged without further issues. This case highlights the importance of promptly identifying and managing such conditions to minimise complications and improve outcomes...
April 16, 2024: BMJ Case Reports
https://read.qxmd.com/read/38627054/extramedullary-relapse-of-multiple-myeloma-presenting-as-space-occupying-lesion-in-liver-treated-with-daratumumab-pomalidomide-dexamethasone-and-bendamustine
#27
JOURNAL ARTICLE
Sarthak Wadhera, Arihant Jain, Suvradeep Mitra, Pankaj Malhotra
Extramedullary relapse in patients with multiple myeloma (MM) is often associated with loss of biochemical response and the appearance of measurable residual disease in the bone marrow. Fever is an unusual presenting manifestation of MM. Treatment of extramedullary relapse in patients progressing on proteasome inhibitors, anti-CD38 monoclonal antibodies and immunomodulatory drugs is challenging, as access to chimeric antigen receptor T-cells and bispecific antibodies is limited. We report a case of relapsed MM who presented with fever and hepatic space-occupying lesion mimicking hepatocellular carcinoma...
April 16, 2024: BMJ Case Reports
https://read.qxmd.com/read/38627053/-pleisiomonas-shigelloides-bacteremia-after-catfish-injury
#28
JOURNAL ARTICLE
Catherine Glatz, Asad Arastu, Meghan K Train
This case of Pleisimonas shigelloides bacteremia resulting after a catfish barb injury highlights an unusual presentation of a common condition that requires alternative therapy for successful treatment. An otherwise healthy male in his early 40s presented to the emergency department with sepsis and rapidly spreading cellulitis shortly after a catfish injury at a freshwater lake. His broad-spectrum antibiotics were narrowed to ciprofloxacin when P. shigelloides grew from his blood culture. The case presents a unique mode of bacteremia, as usually P...
April 16, 2024: BMJ Case Reports
https://read.qxmd.com/read/38627052/-mycoplasma-hominis-peritonitis-after-oocyte-donation
#29
JOURNAL ARTICLE
Pablo Mendoza Cediel, David Garcia Teruel, Esther Viedma Moreno, Maria Teresa Perez Pomata
We report the case of a young, immunocompetent, non-pregnant woman diagnosed with acute abdomen 3 weeks after an ultrasound-guided transvaginal oocyte retrieval (TVOR). Peritoneal fluid, obtained during exploratory laparoscopy, yielded Mycoplasma hominis as the sole pathogen. The patient's symptoms and signs improved after 24-hour treatment with intravenous clindamycin, ampicillin and gentamycin. Complete resolution was achieved with oral doxycycline for 14 days.
April 16, 2024: BMJ Case Reports
https://read.qxmd.com/read/38627051/gram-negative-sepsis-caused-by-a-rare-pathogen-phytobacter-ursingii
#30
JOURNAL ARTICLE
Samuel Choice, Ashten Sherman, Katherine Holder, Elaine Harrington
This case reviews the clinical course of an elderly woman on chronic total parenteral nutrition who developed sepsis secondary to a rare, newly described gram-negative rod known as Phytobacter ursingii The patient noticed a leak in her Hickman catheter when infusing her nutrition. 24 hours after a new catheter was replaced, the patient developed fevers, chills and weakness. She presented to the hospital with hypotension and tachycardia, meeting shock criteria. Blood cultures grew P. ursingii, and the diagnosis of septic shock was confirmed...
April 16, 2024: BMJ Case Reports
https://read.qxmd.com/read/38627050/-haemophilus-parainfluenzae-infective-endocarditis-complicated-by-multiorgan-septic-emboli
#31
JOURNAL ARTICLE
Jarred Bowden, Molly Hunt, Jason Harhay, Tejal Patel, Neena Thomas-Gosain
Infective endocarditis (IE) caused by Haemophilus parainfluenzae is a rare but serious condition if not diagnosed and treated promptly. In this article, we describe a patient with H. parainfluenzae IE who initially presented with non-specific symptoms but subsequently developed multiple sequelae of IE. The diagnosis of IE was made based on clinical, echocardiographic, radiological and microbiological findings. He was treated successfully with a mitral valve replacement along with 4 weeks of intravenous antibiotic therapy...
April 16, 2024: BMJ Case Reports
https://read.qxmd.com/read/38627049/megacystis-microcolon-intestinal-hypoperistalsis-syndrome-mmihs-challenges-in-diagnosis-and-management
#32
JOURNAL ARTICLE
Keerthika Murali, Anjan Kumar Dhua
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare, congenital functional intestinal obstruction, characterised by megacystis (bladder distention in the absence of mechanical obstruction), microcolon and intestinal hypoperistalsis (dysmotility).We are reporting a case of a female child with normal antenatal course who presented with recurrent episodes of abdominal distension since the second day of life and underwent negative exploratory laparotomy on multiple occasions. She also had urinary retention with a grossly distended bladder, requiring drainage by clean intermittent catheterisation...
April 16, 2024: BMJ Case Reports
https://read.qxmd.com/read/38627048/immune-thrombocytopaenic-purpura-following-covid-19-infection-masquerading-as-senile-purpura
#33
JOURNAL ARTICLE
Yuka Shichijo, Kohei Horiuchi, Joyce Fogel
No abstract text is available yet for this article.
April 16, 2024: BMJ Case Reports
https://read.qxmd.com/read/38627047/hypereosinophilic-syndrome-a-rare-cause-of-st-elevation-myocardial-infarction-and-thrombus-formation-on-the-aortic-valve
#34
JOURNAL ARTICLE
Mathias Dyreborg Jørgensen, Ida Ransby Schneider, Gunhild Nynke Thomsen, Jordi Sanchez Dahl
We present a case of a man in his 30s presenting with ST-segment elevation myocardial infarction and eosinophilia. The patient underwent thrombus aspiration and initially echocardiographic evaluation was normal. The patient was discharged after 2 days, but was hospitalised again after 6 days. Echocardiographic evaluation now revealed a thrombus formation on the aortic valve. Laboratory data revealed increasing eosinophilia, and treatment with high-dosage corticosteroids and hydroxyurea was initiated as eosinophilic disease with organ manifestations could not be precluded...
April 16, 2024: BMJ Case Reports
https://read.qxmd.com/read/38627046/dedifferentiated-liposarcoma-of-the-spermatic-cord
#35
JOURNAL ARTICLE
Eric James Panther, Hannah Lyons, Andrew Jacob Shychuk
A man in his 60s presented to an outside hospital with persistent groin pain and a scrotal mass which was thought to be a recurrent hernia. Three months after initial presentation, the patient was found to have dedifferentiated liposarcoma (LPS) of the spermatic cord. LPS of the spermatic cord is a rare entity; however, clinicians should have LPS on the differential diagnosis especially in men with recurrent scrotal pain and mass. If unrecognised, LPS is associated with a high degree of morbidity and mortality...
April 16, 2024: BMJ Case Reports
https://read.qxmd.com/read/38627045/eruptive-xanthomas
#36
JOURNAL ARTICLE
Vikrant Saoji, Bhushan Madke, Jayashri Shembalkar, Kinjal Rambhia
No abstract text is available yet for this article.
April 16, 2024: BMJ Case Reports
https://read.qxmd.com/read/38627044/breast-cryoablation-for-the-palliative-treatment-of-indolent-subtype-of-multicentric-triple-negative-breast-cancer
#37
JOURNAL ARTICLE
Monica L Huang, Deanna L Lane, Hannah Bomar, Henry Kuerer
Breast cryoablation for palliative and curative treatment of breast cancer has been performed for decades. Although there is a recent resurgence of interest in breast cryoablation with curative intent for unifocal, hormone receptor-positive, human epidermal growth factor receptor 2-negative breast cancer, this report highlights the essential role that cryoablation can play in the palliative treatment of multicentric oestrogen and progesterone receptor-negative and human epidermal growth factor receptor 2-negative (triple-negative) breast cancer, meeting the select pretreatment objectives such as breast or nipple pain relief and prevention of tumour erosion through the skin or nipple in patients who have failed or cannot tolerate the standard of care treatment...
April 16, 2024: BMJ Case Reports
https://read.qxmd.com/read/38627043/juvenile-trabecular-ossifying-fibroma-of-the-inferior-turbinate
#38
JOURNAL ARTICLE
Milind Sagar, Prahlad Dharmavaram Rajasekhar, Chirom Amit Singh, Hena Khandkar
Nasal obstruction is a commonly reported issue in the Otorhinolaryngology Outpatient Department. In this case, an early adolescent boy with a long-standing problem of right-sided nasal obstruction since childhood sought consultation. Diagnostic nasal endoscopy revealed a deviation of the nasal septum to the left, coupled with right inferior turbinate hypertrophy, all overlying healthy mucosa. A CT scan of the nose and paranasal sinuses further identified a bony hyperdense lesion with ground glass attenuation, confined to the right inferior turbinate...
April 16, 2024: BMJ Case Reports
https://read.qxmd.com/read/38627042/serotonin-syndrome-presenting-as-acute-dizziness-with-supine-hypertension-and-orthostatic-hypotension
#39
JOURNAL ARTICLE
Sanjay Prakash, Ravisha Gupta, Maitree M Raval, Charu Tibrewal
Serotonin syndrome (SS) is a drug-induced clinical syndrome characterised by a combination of cognitive, neuromuscular and autonomic dysfunctions. The symptoms may include mild non-specific symptoms such as tremors and diarrhoea to coma and sudden death. Herein, we describe a case of SS in which acute dizziness was associated with supine hypertension and orthostatic hypotension. A man in his mid-30s had a 10-month history of anxiety, depression and chronic tension-type headache. He had been on amitriptyline (25 mg daily) and sertraline (50 mg daily)...
April 16, 2024: BMJ Case Reports
https://read.qxmd.com/read/38604743/dermoscopic-features-of-lichen-nitidus
#40
JOURNAL ARTICLE
Naveen Kumar Kansal, Shivani Vasisht, Riti Bhatia
No abstract text is available yet for this article.
April 11, 2024: BMJ Case Reports
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