Horses or zebras: a delayed diagnosis of meralgia paraesthetica

Description  

A 75-year-old woman presented with a 3-week history of escalating nocturnal neuropathic pain affecting her left thigh. This pain was described as sharp and 'shooting' in nature, primarily in the upper outer part of her thigh, with a severity of '10/10' at its worst. She had a medical history of osteoarthritis, hypercholesterolaemia, paroxysmal atrial fibrillation, a complete left bundle branch block with normal cardiac function and intestinal metaplasia for which she was undergoing regular endoscopic surveillance. She provided a strong family history of malignancy, with colorectal cancer in her sister, ovarian cancer in her mother, oesophageal cancer in her father, and lung and prostate cancer in her brother. Of note, in this time she had not experienced any trauma, fevers, fatigue, altered bowel habits, or weight loss.

The clinical exam revealed loss of the ankle reflex on the left side despite reinforcement but no other discernible neurological deficit....

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Hidden diagnosis behind viral infection: the danger of anchoring bias

Anchoring bias is one of the most common diagnostic biases that may lead to closed-minded thinking and could result in unnecessary tests, inappropriate patient management and even misdiagnosis. A 4-year-old boy was brought to the emergency department because of shaking chills. On the basis of bilateral swollen preauricular areas, high level of serum amylase and the prevalence of mumps, he initially received a diagnosis of mumps in spite of the shaking chills. However, blood culture turned out to be positive for two different kinds of bacteria. The patient finally received a diagnosis of polymicrobial bacteraemia resulting from suppurative appendicitis. We must consider and rule out bacteraemia in the differential diagnosis for patients who present with shaking chills, even in the presence of symptoms or information consistent with a more common viral infection such as mumps. In addition, intra-abdominal infection should be ruled out in the presence of polymicrobial enterobacteriaceae bacteraemia.

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Sleep-related eating disorder with mirtazapine

Sleep-related eating disorder (SRED) is classified within parasomnia and is characterised by recurrent episodes of abnormal, dysfunctional eating during sleep. This report describes a case of SRED in a 19-year-old woman admitted to the psychiatric ward with worsening anxiety, low mood and suicidal ideation. She was started on low-dose mirtazapine for mood stabilisation and, following an incremental increase to 30 mg, she developed nocturnal binge eating of which she retained only partial memory on waking. She developed adverse health consequences as a result of these recurrent episodes. The subject's symptoms were relieved rapidly following reduction of the dose of mirtazapine back to 15 mg.

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A novel KIF5B-ALK fusion in a child with an atypical central nervous system inflammatory myofibroblastic tumour

Description  

An 11-year-old girl presented with global developmental delay. As part of her routine work-up for her developmental disability, MRI of the brain was performed and demonstrated a contrast-enhancing lesion with reduced diffusivity in the right parietal lobe (figure 1). A stereotactic robotic-assisted needle biopsy revealed microglial proliferation and lymphocytic inflammation, indicating potential microglioma or gliofibroma; however, a more definitive diagnosis was not established given the limited tissue. Early repeat MRI showed areas of progression, and gross total resection was performed. The pathology demonstrated a moderately cellular proliferation of spindle cells with scattered mitotic figures, and a mixed inflammatory infiltrate of scattered lymphocytes, plasma cells and eosinophils (figure 2A). The areas of nodular spindle cell proliferation were diffusely immunopositive for CD68 and negative for CD30, CD34, smooth muscle actin, desmin, S100, CD1a, CD117, CD3, CD20, CD15, synaptophysin, glial fibrillary acidic protein (GFAP) and leucocyte...

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Plasmablastic lymphoma masquerading solitary plasmacytoma in an immunocompetent patient

We report a case of a middle-aged woman who initially presented with a painful solitary destructive lesion at fifth lumbar vertebra. The initial diagnosis of plasma cell neoplasm was made based on limited histological information obtained from fragmented tissue sample. Clinicopathological findings were consistent with a solitary plasmacytoma, and she was treated with definitive radiotherapy. A month after completing radiotherapy, she was found to have multiple liver lesions. Subsequent liver biopsy confirmed plasmablastic lymphoma (PBL). She was treated with multiple lines of chemo/immunotherapy regimens with limited or no response. She died of progression of liver lesions causing hepatic failure 16 months post diagnosis. Because of its rarity and heterogeneous presentations, PBL could easily be overlooked clinically and pathologically in immunocompetent patients. Diagnosis of PBL should be considered when there is coexpression of myeloma and lymphoma immune markers.

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Coronary artery ectasia in Crohns disease

Coronary artery ectasia (CAE) can be ascribed, in the majority of cases, to coronary atherosclerosis. Nevertheless, the presence of isolated ectatic lesions without obstructive coronary artery disease and the association of CAE with several autoimmune diseases characterised by systemic vascular involvement suggest that the pathogenesis of CAE may extend beyond coronary atherosclerosis. We herein report the case of a 56-year-old male patient with Crohn's disease and isolated CAE, who has been found positive for IgM and IgA antiendothelial cell antibodies, and discuss a potential pathogenic mechanism.

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Common diagnosis at an unusual age - pulmonary oedema in a toddler

Description 

A 15-month-old toddler presented to the emergency department (ED) with a history of fatigue, rhinitis and reduced oral intake. The medical history was remarkable for diarrhoea (Enterohaemorrhagic Escherichia coli (EHEC), Shiga toxin) positive haemolytic uremic syndrome (D⁺-HUS) 3 months ago with microangiopathic haemolytic anaemia, thrombocytopenia, renal failure and hypertension. When HUS was diagnosed, he had a blood pressure of 117/82 mm Hg, anuria over 18 hours and a platelet count of 110x10⁹/L with fragmentocytes on blood film without evidence of complement dysfunction. The patient had come off dialysis after 1 month with persistent impaired renal function (peak creatinine 300 µmol/L, on discharge 205 µmol/L, estimated glomerular filtration rate (eGFR) 10 and 15 mL/min/1.73 m², respectively). He was on regular amlodipine, calcitriol and sodium bicarbonate. Parents reported normal urine output. Clinical examination showed respiratory rate 62/min, no recessions, heart rate 154/min, blood pressure 122/98 mm Hg, pulse oximetry 100% and normal temperature. Lung auscultation revealed bilateral inferior...

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Dysphagia unveiling systemic immunoglobulin light-chain amyloidosis with multiple myeloma

Dysphagia is an uncommon presentation of systemic immunoglobulin light-chain (AL) amyloidosis with multiple myeloma (MM). Gastrointestinal (GI) involvement usually manifests with altered motility, malabsorption or bleeding. Furthermore, patients identified with GI amyloidosis, without previous diagnosis of a plasma cell disorder, are extremely rare. We report an elderly woman who presented with acute on chronic cardiac dysfunction, sick sinus syndrome and acute renal failure. While admitted, she developed intermittent dysphagia to both solids and liquids. Oesophagogastroduodenoscopy showed ulcerations of oesophagus and duodenum. Biopsies revealed focal amyloid deposition, stained with Congo red. Renal biopsy revealed amyloid deposition in renal arterioles. She underwent a bone marrow biopsy confirming MM, represented by more than 15% plasma cell population. She was started on treatment for heart failure, induction chemotherapy for MM and percutaneous gastrostomy tube for feeding. However, she continued to deteriorate, eventually opting for hospice, and ultimately died 2 days after discharge from hospital.

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Intraoperative Descemets membrane detachment in a case of phacomorphic glaucoma

A 60-year-old female patient with phacomorphic glaucoma underwent initial medical management to control the intraocular pressure (IOP). After 48 hours, a stable IOP was achieved and subsequently the patient was planned for phacoemulsification followed by intraocular lens implantation. There was initial difficulty while reconstructing the corneal wounds; however, phacoemulsification and IOL implantation were uneventful but during viscoelastic removal, an inadvertent Descemet's membrane detachment involving the central cornea was noted. Postoperatively corneal oedema persisted till 1 week, following which there was a gradual improvement with topical antibiotics, steroids and hyperosmotic agents. At the end of 6 months, the best corrected visual acuity was 20/25 with a central corneal thickness of 580 µm without any need for additional endothelial replacement surgery.

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Persistent cervical lymphadenitis in a patient with prior thyroid cancer attributed to Kikuchi-Fujimoto disease

We describe a 50-year-old woman with a history of thyroid cancer who presented with bilateral cervical and submandibular lymphadenopathy, low-grade fevers, and increasing fatigue. The patient underwent lymph node fine-needle aspiration, which showed no evidence of metastatic or lymphoproliferative disease. This procedure was complicated by a parapharyngeal abscess and cellulitis. She was treated unsuccessfully with various courses of antibiotics, but briefly responded to short courses of steroids. As her cervical lymphadenopathy returned, she underwent an excisional lymph node biopsy, which demonstrated caseating granulomatous lymphadenitis. Extensive review of systems, physical examination, laboratory and imaging studies demonstrated no evidence of malignancy, infection or systemic lupus erythematosus . Our patient was clinically diagnosed with Kikuchi-Fujimoto disease and successfully treated with prednisone tapered over 3 months. She remains in clinical remission.

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Treatment response in osmotic demyelination syndrome presenting as severe parkinsonism, ptosis and gaze palsy

Osmotic demyelination syndrome commonly affects the pons and infrequently involves the extrapontine region. We report a patient with severe hyponatraemia who developed osmotic demyelination syndrome as a consequence of rapid sodium correction. The condition manifested as acute severe parkinsonism, bilateral ptosis and gaze impairment. MRI revealed typical features of central pontine and extrapontine myelinolysis. The patient improved gradually after treatment with a combination of levodopa, intravenous immunoglobulin and dexamethasone. However, it is important to emphasise that the improvement of neurological symptoms is not necessarily causal with these experimental therapies.

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Abdominal compartment syndrome: the importance of urinary catheter placement in measuring intra-abdominal pressure

Description  

A 27-year-old man with a background of alcohol excess presented to the surgical assessment unit (SAU) with abdominal pain. On clinical examination, he was tender in his epigastric and left-upper quadrant. The blood results of note were a white cell count of 21x10⁹/L, C reactive protein 332 mg/L and amylase 812 U/L. He deteriorated quite quickly on the SAU with agitation, type 1 respiratory failure and hypotension. He required intubation and ventilation, and to be started on vasopressors. A CT of his abdomen and pelvis showed features in keeping with necrotising pancreatitis with a collection in the lesser sac (figure 1). He was managed conservatively in the intensive care unit with vasopressors, intravenous fluids, nasogastric feeds and antimicrobials.

Figure 1

CT scan of abdomen and pelvis showing features of necrotising pancreatitis.

On day 2, he developed increasing abdominal distension. His intra-abdominal pressure...

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Spontaneous renal artery dissection masquerading as urinary tract infection

Spontaneous renal artery dissection is a rare clinical entity, and symptoms vary from non-specific abdominal pain to life-threatening hypertension. A 44-year-old woman with no significant medical history initially presented with symptoms suggestive of urinary tract infection which did not respond to antibiotic therapy. Imaging revealed right renal infarction resulting from focal spontaneous renal artery dissection, which was managed conservatively. CT angiography is the preferred imaging modality for the diagnosis of this condition. Treatment options include medical management of hypertension with or without anticoagulation, endovascular intervention and surgical revascularisation depending on the presentation and the extent of the vascular and renal parenchymal involvement. This case emphasises the need to have high index of suspicion for uncommon diagnoses in patients who present with common symptoms but do not respond to empiric therapy.

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Acute mechanical duodenal obstruction due to giant hydronephrosis: an unusual cause of acute abdomen

Giant hydronephrosis (GH) is a rare clinical entity with about 600 cases and defined as the adult renal pelvis containing greater than 1 L of fluid, or at least 1.6% of the body weight or kidney occupying the hemiabdomen. The pelvic-ureteric junction (PUJ) obstruction is the most frequent cause of GH. We thus report a case of massive abdominal distension due to GH secondary to PUJ obstruction who presented with acute duodenal obstruction due to extrinsic compression and was managed with percutaneous nephrostomy followed by open nephrectomy.

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Baerveldt-XEN persistent proximal occlusion: solving new problems with old answers

A 51-year-old woman was referred with uncontrolled intraocular pressure (IOP) despite maximal medical IOP-lowering therapy. Her background included several failed glaucoma filtering surgeries, including aqueous drainage devices. Considering the need to perform surgery in a patient with both scarred conjunctiva and corneal endothelial deficiency, a surgical technique combining cornea-friendly XEN stent connected to a large-plate Baerveldt glaucoma implant was undertaken. Unfortunately, XEN implants obstructed twice during the early postoperative period. As further XEN replacements were unfeasible, there was the need to bridge the gap between the Baerveldt tube and the anterior chamber. An easy accessible, cheap 22G angiocatheter segment was used for this purpose. With a follow-up of 6 months, there were no postoperative complications nor loss of efficiency, with IOP of 7 mmHg. Tube extension using angiocatheter is a viable, cost-effective option in these difficult cases, saving the surgeon from having to explant and replace the entire implant.

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Atypical histopathology findings in presumed epibulbar cysticercosis

Description 

A 20-year-old young man presented with a painless epibulbar mass noted suddenly over the medial side of right eye (RE) 1 month back. Systemic history was insignificant and there was no history of trauma. On examination, visual acuity was 20/20 in both eyes (B/E) with no limitation of ocular movements. On examination, a mass lesion measuring about 1 cm in its longest dimension was noted over the medial side of the RE, with no apparent compression effect (figure 1). Overlying conjunctiva was mildly oedematous and congested. The posterior extent of the mass could not be appreciated. Rest of the anterior and posterior segment examination of BE was within normal limits.

Figure 1

(A) Clinical photograph shows the epibulbar cystic lesion over medial side of the eye ball (arrows). (B) Sonography shows a cystic lesion with a hyperdense echo within its cavity that is seen as connected...

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Impending cardiac tamponade as a primary presentation of Hashimotos thyroiditis

Description 

A 37-year-old woman with a history of psoriatic arthritis presented to the emergency department with back pain radiating to the upper abdomen for 1 week with no other associated symptoms. Physical examination revealed normal vital signs, mild enlargement of the thyroid gland, jugular venous distension and distant heart sounds. Laboratory results revealed elevated thyroid-stimulating hormone at 134.76 U/mL, decreased free T4 at 0.27 ng/dL and T3 at 1.7 ng/dL. Testing for cyclic citrullinated peptide antibody, antinuclear antibody and rheumatoid factor was negative. ECG showed sinus rhythm at 63 beats per minute and low-voltage complexes. Chest X-ray showed cardiomegaly. CT of the abdomen and pelvis revealed an incidental large pericardial effusion and no remarkable abdominal pathology. Echocardiography confirmed large pericardial effusion with an early tamponade physiology (figure 1).

Figure 1

(A) Echocardiogram (ECHO) apical four chamber view showing right ventricular wall collapse with surrounding large pericardial effusion. (B) ECHO parasternal short-axis...

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Neurosyphilis concurrently involving eye and ear

Description 

A 42-year-old woman presented to our hospital with a 2-month history of bilateral decreased and blurry vision accompanying mild photophobia. She had had several episodes of unsafe sex and was diagnosed with secondary syphilis 10 months prior. Despite the diagnosis, she did not undergo any treatment for the infection. An ophthalmological examination revealed bilateral macular oedema, suggesting the development of uveitis (figure 1A,B). Laboratory data for complete blood counts and chemistry were unremarkable, but there were elevations of rapid plasma reagin (RPR) test and Treponema pallidum haemagglutination test (TPHA) titres, at 1:32 and 1:5120, respectively, leading to the diagnosis of ocular syphilis. Screening tests for hepatitis B virus, hepatitis C virus and HIV yielded negative findings. Further cerebrospinal fluid examination indicated a complication of neurosyphilis, with a mildly elevated white cell count (0.013x10⁹/L), protein level (49 mg/dL), and positive RPR (1:4) and TPHA (1:320) titres. The...

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Generalised nevus flammeus, episcleral capillary malformation and glaucoma

Description 

A 35-year-old woman presented with no vision, redness, pain and photophobia in the left eye (LE) since 4 months. This was associated with left-sided headache and vomiting too. She had history of poor vision in LE since 2–3 years, and had been treated with topical antiglaucoma medication. There was no significant family history. On examination, visual acuity was 6/6 in right eye (RE) and no perception of light in LE. Intraocular pressure (IOP) was measured as 14 mm Hg in RE and >60 mm Hg in LE. Slit lamp evaluation revealed conjunctival congestion, corneal oedema, fully dilated pupil and white cataract in LE (figure 1). Gonioscopy was within normal limits. RE ocular examination did not reveal any significant anomaly. RE pupil did not show any consensual response, while LE pupil was fixed. Systemic workup revealed nevus flammeus (NF) over the face involving both periocular regions but more...

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Cutaneous pseudolymphoma secondary to gabapentin

Description 

A middle-aged woman presented with a 'pimple that won't heal'. She stated that it slowly enlarged over her left cheek for 6 months. She denied any symptoms of itchiness nor pain. She previously tried topical metronidazole for 6 weeks without improvement. She used acetaminophen and ibuprofen on occasion for 10 years to combat her migraine headaches, plus her neurologist recently initiated her on gabapentin. The patient noted that her presenting problem started 3 weeks after she initiated the gabapentin. Throughout this period of time, she also continued to take ibuprofen approximately three times weekly. She denied using any other medicines. Additionally, she denied a bug bite to her left cheek. On examination, a single dime-sized, non-scaly plaque with slight erythema was located on her left cheek (figure 1). The rest of her skin exam was unremarkable. A single punch biopsy revealed a dermal mixed infiltrate consisting of predominantly...

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Fever, pulmonary interstitial fibrosis, and hepatomegaly in a 15-year-old boy with Gaucher disease: a case report

Gaucher disease is an autosomal recessive disorder resulting from the accumulation of glucocerebroside in the cells of the macrophage-monocyte system caused by deficiency in lysosomal glucocerebrosidase. Intra...

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Acanthomatous Ameloblastoma of Mandible in a Paediatric Patient

Ameloblastoma is a slow-growing, benign odontogenic tumor derived from odontogenic epithelial components with a mature fibrous stroma. It is the second most common odontogenic neoplasm following odontome. Acanthomatous ameloblastoma histologically presents with squamous epithelial metaplastic transformation of odontogenic tissue. The present case report of a 12-year-old male exclusively elaborates the issues concerned with the aggressive nature of acanthomatous ameloblastoma (AA) which is a distinctive variant of ameloblastoma.

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