Thiamine-responsive megaloblastic anaemia in a young adult with acute pancytopenia.

Thiamine-responsive megaloblastic anaemia (TRMA) is a rare autosomal recessive disorder characterised by the clinical triad of megaloblastic anaemia, sensorineural hearing loss and diabetes mellitus (DM) in young patients. We present a case of a young man with type 1 DM who presented with pancytopenia of unclear aetiology, initially attributed to a COVID-19 infection. After obtaining a bone marrow biopsy and pursuing genetic testing, two pathogenic variants of the SLC19A2 gene consistent with TRMA were discovered in this patient. Treatment with 100 mg of thiamine oral supplementation daily led to the complete resolution of his pancytopenia. It is important to consider a genetic cause of pancytopenia in a young person. Early recognition and diagnosis of TRMA can be life-altering given early treatment can reduce insulin requirements and resolve anaemia.

Gangrene and osteomyelitis of the toe in a previously healthy patient due to undiagnosed essential thrombocythemia.

We report a case of gangrene and osteomyelitis of the toe in a young, previously healthy male with undiagnosed essential thrombocythemia (ET). The patient experienced persistent right fifth toe pain, discolouration and ulceration for 3-4 months, unresponsive to antibiotics. Despite multiple normal X-rays, 2 months later, MRI revealed osteomyelitis. On inpatient admission, testing revealed thrombocytosis and abnormal blood flow to right fourth and fifth toes without thrombus, consistent with vasospasm. This ultimately resulted in ischemia, gangrene and osteomyelitis of the toe, necessitating amputation. The patient was subsequently treated with hydroxyurea for ET. This unusual presentation underscores the importance of a broad differential in cases when conventional treatments fail to yield improvement.

Return to professional football after ICD implantation in athlete with apical hypertrophic cardiomyopathy.

The risk of sports participation in elite athletes with cardiac disease with an indication for implantable cardioverter-defibrillator (ICD) therapy is largely unknown. Currently, international guidelines provide restrictive sports advice for such athletes. This case report presents a professional football player who after an episode of syncope and diagnosis of apical hypertrophic cardiomyopathy expressed a strong wish to explore the feasibility of returning to elite-level sports. After a shared decision-making and monitored stepwise graduated rehabilitation, the athlete made a full return to professional football. Our case indicates that individualised sports advice in elite athletes with cardiac disease and an ICD may be warranted.

Nonepisodic angioedema with eosinophilia subsequent to acute parvovirus B19 infection.

Nonepisodic angioedema with eosinophilia (NEAE) is characterised by a single episode of angioedema localised to the extremities and peripheral eosinophilia. While NEAE can develop in response to infection or vaccination, NEAE associated with acute parvovirus B19 (B19V) infection is rare. We describe the case of a young woman with NEAE that developed during acute B19V infection. She presented with 1-week history of pruritus and polyarthralgia in the extremities, followed by the development of peripheral oedema, and was positive for anti-B19V IgM antibody. Her arthralgia improved within 2 weeks without any specific intervention; however, the oedema and pruritic erythema persisted and the peripheral eosinophil count increased. A short course of prednisolone therapy for suspected NEAE alleviated the symptoms, which have not recurred for more than 2 years. Thus, we believe that the patient was affected by NEAE and that NEAE can develop following acute B19 infection.

Severe postural hypotension and sinus bradycardia with thalidomide in patients with erythema nodosum leprosum.

Two men in their 60s and 40s were diagnosed with erythema nodosum leprosum based on the development of recurrent painful ulcers and nodules, respectively, for the previous 6 months. Thalidomide 100 mg four times a day, along with MB-MDT, was started in both patients. Both patients experienced severe dizziness on rising from a seated posture soon after initiation of thalidomide and a decrease in blood pressure and heart rate. Cardiovascular/neurology examination and routine blood investigations were normal. An autonomic nervous system assessment indicated bradycardia, postural hypotension and decreased cardiac autonomic function. The dosage of thalidomide was then gradually reduced over 4-5 days to 100 mg/day following a suspicion that thalidomide was the cause of postural hypotension. The dizziness subsided, and blood pressure and heart rate returned to normal.We concluded that thalidomide was the culprit behind bradycardia and dose- dependent postural hypotension.

Usefulness of newer testing modalities for the accurate diagnosis of culture-negative endocarditis.

A woman in her 80s with a history of congestive heart failure, atrial arrhythmia treated with atrioventricular nodal ablation and permanent pacemaker (PPM) placement, mitral valve disease status post-repair and colon cancer status post-treatment was admitted for further evaluation of severe dyspnea on exertion. Imaging revealed vegetation on both the prosthetic mitral valve and the PPM lead. Blood cultures were collected without growth, so a cell-free DNA Karius test was performed, which can detect over 1000 pathogens and has a sensitivity between 87% and 93%. Testing returned positive results for Streptococcus bovis subspecies pasteurianus Given its association with colorectal cancer, abdominal imaging and an endoscopic biopsy were performed, showing recurrent colonic malignancy. The patient underwent a right colon resection prior to cardiac intervention. This report describes the clinical application of the novel cell-free DNA Karius test, which led to the diagnosis of recurrent colon cancer associated with S. pasteurianus endocarditis.

Management of a rare case of lymphangioleiomyomatosis complicated by recurrent pneumothorax.

A female of reproductive age presents to the emergency department with progressive dyspnoea due to pneumothorax. She has a history of lymphangioleiomyomatosis (LAM) diagnosed by lung biopsy 15 years ago following incidental finding of pneumothorax. Despite various procedural and medicinal treatments, she continued to have recurrent pneumothorax, with three hospital admissions over the preceding 3 months. LAM is a rare cystic lung disease affecting the lymphatic system, which most commonly affects women of childbearing age. It can be diagnosed via imaging or tissue biopsy (gold standard). Treatment can be difficult, and it often requires highly specialised care by pulmonologists and often confers significant limitations to patients' independence and quality of life. Family physicians are often part of multidisciplinary team to provide care to patients with rare chronic conditions.

Atypical presentation of Wernicke encephalopathy due to thiamine deficiency in a patient post sleeve gastrectomy.

We present a case of a woman in her 20s who presented to the emergency department with a 1-month history of blurry vision, lower extremity weakness in both legs and progressive numbness involving the feet and anterior chest. On admission, the patient was unable to ambulate. She was 3 months status post laparoscopic vertical sleeve gastrectomy for weight loss and using transdermal vitamin patches for nutritional supplementation. Laboratory values revealed low levels of vitamin B1, vitamin A, vitamin D, folic acid and copper levels. The patient was diagnosed with Wernicke encephalopathy and possible peripheral neuropathy secondary to thiamine deficiency. She was started on intravenous thiamine 500 mg three times a day and folate 1 mg one time a day for 3 days and then transitioned to oral thiamine 500 mg along with a multivitamin tablet. Improvement in ophthalmoplegia, weakness, sensation and cognition was noticed after initiating treatment.

Non-specific presentation of metastatic small bowel adenocarcinoma with diagnostic challenges.

Diagnosing small bowel adenocarcinomas presents challenges due to non-specific symptoms, rarity and gastroscopy and colonoscopy's limited small intestine access, highlighting targeted diagnostic procedures' necessity. We present a late-diagnosed metastatic small bowel adenocarcinoma case in a man in his 80s who had asymptomatic mild iron-deficiency anaemia 1 year before diagnosis, with no active bleeding found on endoscopies. He experienced a single rectal bleeding episode 9 months prediagnosis, with subsequent severe iron-deficiency anaemia and no clear gastrointestinal source identified on gastroscopy. For 2 months, he had intermittent postprandial diarrhoea without abdominal pain, infectious or inflammatory causes. He experienced significant weight loss over 3 months prediagnosis. Subsequent gastroscopy indicated duodenal-gastric food retropulsion, suggesting a downstream blockage. Magnetic resonance enterography showed proximal jejunum thickening. Push enteroscopy confirmed jejunum adenocarcinoma. CT scans detected liver and peritoneal metastases. After one chemotherapy cycle, his condition worsened, leading to his passing 2 months post diagnosis.

Intramuscular cysticercosis of the forearm mimicking a soft tissue tumour.

A man in his 20s presented with a painless, slow-growing firm swelling in the anterolateral aspect of his left forearm. The swelling had been present for 1 year and measured 10×12 cm. Clinically, a differential diagnosis of soft tissue sarcoma, lipoma, neurofibroma, dermoid cyst and hydatid cyst of the extremity was considered. MRI suggested a primary intramuscular hydatid cyst. However, fine-needle aspiration was inconclusive, and ELISA for immunoglobulin G antibodies to echinococcal antigen in serum was negative. A wide-local complete surgical excision of the lesion was planned. Intraoperatively, a well-defined, tense cystic swelling with surrounding dense adhesions was found within the intramuscular plane. Histopathological examination of the cyst wall revealed cysticercosis. The patient recovered uneventfully. This case highlights that solitary intramuscular cysticercosis, although rare, should be included in the differential diagnosis of an isolated soft tissue mass, particularly in endemic areas.

Congestive colopathy in a patient with arteriovenous malformations and multiple mesenteric thromboses.

Arteriovenous malformations (AVMs) in mesenteric vessels are exceptionally rare. These congenital vascular anomalies lead to direct vascular flow between the highly pressured arterial system and the low-pressure venous system. We describe the case of a patient with prior left colectomy for splenic flexure colonic adenocarcinoma presenting with persistent abdominal pain after developing multiple mesenteric thromboses. CT and colonoscopy showed left hemicolon congestion, anastomotic stenosis and mucosal oedema. Mesenteric angiogram revealed AVMs in the right colic and left colic arteries. Embolisation of the left colic AVM led to symptom resolution without recurrence at interval follow-up.

Primary Sjogren's syndrome presenting as hypokalaemic periodic paralysis and acute pancreatitis.

Renal tubular acidosis is a well-known consequence of primary Sjogren's syndrome (pSS), but a rare manifestation similar to acute pancreatitis in pSS. Here, we discuss the case of a woman in her 50s, who presented to a tertiary care hospital with recurrent episodes of sudden-onset weakness in all four limbs, recurrent vomiting and epigastric pain. She had non-anion gap metabolic acidosis with hypokalaemia and was diagnosed with pSS with hypokalaemic periodic paralysis. She was also diagnosed with acute pancreatitis based on elevated amylase and lipase levels and CT findings. The article highlights the diverse spectrum of clinical manifestations of pSS, including renal and pancreatic involvements, which can be rare consequences of the disease.

Airway consequences of alendronic acid aspiration.

Bisphosphonates are commonly prescribed medications to prevent and treat osteoporosis. Although possessing low side effect profiles, the potential for severe topical effects is rare but important. Irritation of the upper gastrointestinal tract is well documented; however, the risk and effects of accidental aspiration are rarely reported.Attention is drawn to a case recently managed at a tertiary head and neck centre where a patient in their 70s was admitted in respiratory distress 3 days after aspirating alendronic acid. This case highlights the potential risk of topical chemical injury posed to the airway by bisphosphonates.Bisphosphonates should be prescribed with detailed and specific counselling regarding this risk. Pharmacological product literature should be updated to reflect the risk. Clinical teams should be aware of and vigilant for the delayed presentation and prolonged symptom course of such injuries. Prompt airway intervention and techniques to minimise further mucosal trauma ensure optimal outcomes.

Recurrent skin and soft tissue infections (SSTIs) in three family members caused by methicillin-resistant Staphylococcus aureus (MRSA) with Panton-Valentine leukocidin (PVL) exotoxin.

Three family members attended their general practice and emergency department over a 3-month period with recurrent skin and soft tissue infections (SSTIs) such as paronychia, submandibular carbuncle and groin and gluteal abscess requiring surgical drainage. Only when two family members were concurrently admitted with abscesses requiring drainage under general anaesthetic was the definitive diagnosis reached. The wound swabs identified methicillin-resistant Staphylococcus aureus (MRSA) and subsequent identification of the exotoxin Panton-Valentine leukocidin (PVL). Following MRSA decolonisation therapy with mupirocin and octenidine, only one family member has had one recurrence of an SSTI with MRSA isolated from the wound. When patients present with a history of recurrent SSTIs or a family all have had similar presentations, the clinician should consider MRSA with PVL exotoxin infection. Then patients must be referred for confirmation to ensure management is effective for the SSTI and prescribe MRSA decolonisation therapy concurrently to reduce recurrence.

Sarcoidosis with laryngeal and tracheal involvement.

A woman in her early 30s presented to her primary care physician's office with hoarseness, joint pain and facial swelling. The objective evaluation revealed elevated inflammatory markers and angiotensin-1-converting enzyme, a chest radiograph with bilateral hilar prominence and a maxillofacial CT scan with diffuse inflammation in the upper airway. Otolaryngology evaluation revealed exophytic lesions diffusely within the nasal cavity, base of tongue, supraglottis, glottis and trachea. A biopsy confirmed the diagnosis of sarcoidosis. She was treated with corticosteroids with improvement in upper and lower airway symptoms. She continued to experience other extrapulmonary manifestations of sarcoidosis requiring alternative immunosuppressant therapy. At 30 months from symptom onset, her disease was noted to be in remission.

Acute intravascular haemolysis associated with scrub typhus.

Scrub typhus, a prevalent tropical infection, may sometimes manifest with unusual complications. Here, we present the case of a young man who was admitted to our facility with a fever for the past 3 days and passage of dark-coloured urine since that morning. On investigation, we identified intravascular haemolytic anaemia. Through meticulous examination, a black necrotic lesion (eschar) was discovered on his right buttock, a pathognomonic sign of scrub typhus infection. Treatment was initiated with oral doxycycline 100 mg two times a day. Subsequently, diagnosis of scrub typhus was confirmed through positive results from scrub typhus IgM via ELISA and PCR analysis from the eschar tissue. The patient responded well to oral doxycycline and his symptoms resolved within the next few days. This case highlights severe intravascular haemolysis associated with scrub typhus infection.

Pulmonary manifestation of VEXAS syndrome.

This case report presents the diagnostic journey of a man in his mid-70s who experienced shortness of breath, cough, recurrent episodes of fever, weight loss, pruritic erythroderma, uveitis and macrocytic anaemia. The initial diagnosis of cryptogenic organising pneumonia was made based on antibiotic refractory infiltrates seen in the lung CT scan. The patient initially responded favourably to immunosuppression but experienced a recurrence of symptoms when the corticosteroid dose was tapered. Despite ongoing systemic inflammation and refractory symptoms, it took nearly a year to establish the diagnosis of VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic) syndrome. This case highlights the challenges in diagnosing and managing VEXAS syndrome due to its recent discovery and limited awareness in the medical community, as well as the need to consider this syndrome as a rare differential diagnosis of therapy-refractory pulmonary infiltrates.

Delayed diagnosis of perirectal horseshoe abscess and patient's perspective.

This is a case of a woman in her 50s with HIV and uncontrolled diabetes who presented to the emergency department with urinary retention and a painful gluteal cleft lesion, admitted for cellulitis. Since initial CT and soft tissue ultrasound (US) were negative for fluid collection, the care team was surprised to find her symptoms continued to progress despite intravenous antibiotics. Finally, MRI 9 days into her admission demonstrated a 12-cm perirectal horseshoe abscess. The patient was ultimately treated with incision and drainage with Penrose drain placement. This case demonstrates the importance of maintaining a high suspicion for horseshoe abscess, a complex form of ischiorectal fossa abscess which can be missed on CT and US imaging, and which may expand rapidly in immunosuppressed patients.