BMJ Case Rep
· 2026 Jun · PMID 42248600
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Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive metabolic epilepsy classically presenting with refractory neonatal seizures that respond to pharmacological doses of pyridoxine (vitamin B6). Although tra...Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive metabolic epilepsy classically presenting with refractory neonatal seizures that respond to pharmacological doses of pyridoxine (vitamin B6). Although traditionally regarded as a neonatal disorder, later presentations are increasingly recognised. We report an adolescent patient with long-standing treatment-resistant epilepsy and learning disability who was ultimately diagnosed with PDE. Whole genome sequencing identified compound-heterozygous pathogenic variants in The diagnosis was further supported by elevated urinary and plasma α-aminoadipic semialdehyde levels. Initiation of pyridoxine therapy combined with lysine-reduction treatment resulted in sustained seizure control and allowed gradual withdrawal of conventional antiseizure medications. This case highlights the importance of considering PDE in older children and adolescents with refractory epilepsy and neurodevelopmental impairment and demonstrates the value of integrating genomic and metabolic investigations to establish a definitive diagnosis.
Sharma PN, Pakhale A, Chavhan A
… +1 more, Hande A
BMJ Case Rep
· 2026 Jun · PMID 42248599
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Adenoid cystic carcinoma (ACC) is a rare, slowly growing salivary gland neoplasm distinguished by its versatile phenotype and destructive clinical course. Its underlying aetiology is unclear. It is characterised by a gra...Adenoid cystic carcinoma (ACC) is a rare, slowly growing salivary gland neoplasm distinguished by its versatile phenotype and destructive clinical course. Its underlying aetiology is unclear. It is characterised by a gradual yet infiltrative progression, perineural invasion (PNI), a worse prognosis, late recurrence and distant metastases. ACC is recognised for its unique histological features and susceptibility to PNI.We present a case of a female in her 50s with a history of progressively enlarging swelling in the right palate diagnosed as a "hybrid variant of adenoid cystic carcinoma". Histopathological analysis confirmed the diagnosis, emphasising the need for long-term follow-up given ACC's propensity for late recurrence and distant spread, particularly to the lungs. For individuals with advanced non-resectable, recurring and/or metastatic illness, there is currently no viable treatment. But its prevalence impedes the advancement of additional studies and clinical investigations to study new approaches and novel treatments.
Aleena I, Konakanchi VSBP, Puri S
… +1 more, Mahata M
BMJ Case Rep
· 2026 Jun · PMID 42248597
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Blood blister-like aneurysms (BBAs) are rare, fragile vascular lesions most commonly arising from non-branching segments of the internal carotid artery. Basilar artery BBAs are exceptionally uncommon and present signific...Blood blister-like aneurysms (BBAs) are rare, fragile vascular lesions most commonly arising from non-branching segments of the internal carotid artery. Basilar artery BBAs are exceptionally uncommon and present significant diagnostic and management challenges. We report the case of a woman in her late 50s who presented with sudden-onset occipital headache, neck stiffness, and subarachnoid haemorrhage. Digital subtraction angiography identified a 3 mm blister-like aneurysm in the basilar artery, considered the presumed culprit lesion, along with an incidental basilar artery fenestration. Endovascular flow-diversion was recommended; however, the patient declined intervention after informed counselling and was managed conservatively with intensive neurocritical monitoring. The patient recovered without residual neurological deficit. This case highlights the diagnostic overlap between aneurysmal and perimesencephalic subarachnoid haemorrhage, the importance of careful vascular imaging, and the management challenges posed by rare posterior circulation BBAs and associated vascular variants.
BMJ Case Rep
· 2026 Jun · PMID 42248596
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Paediatric-onset systemic lupus erythematosus (SLE) is a rare but clinically significant condition, often presenting with central nervous system (CNS) involvement. The most common CNS manifestations include headaches, se...Paediatric-onset systemic lupus erythematosus (SLE) is a rare but clinically significant condition, often presenting with central nervous system (CNS) involvement. The most common CNS manifestations include headaches, seizures and psychosis. We present two cases of neuropsychiatric SLE with unusual clinical and imaging features.The first case involves an adolescent girl who presented with unilateral vision loss and elevated intracranial pressure. MRI revealed large well-defined ring-enhancing lesions in the bilateral subcortical white matter. She underwent extensive evaluation for infectious, autoimmune and demyelinating causes.The second case concerns another adolescent girl who presented with bilateral vision loss, with MRI showing small ring-enhancing lesions in the brain. Both patients had initially been treated for CNS tuberculosis with anti-tuberculous therapy before being referred to our hospital.In both cases, the diagnosis of SLE was confirmed by elevated anti-double-stranded DNA antibody levels. Both patients responded favourably to immunotherapy. These cases add to the existing literature by describing unique manifestations of neuropsychiatric SLE in children and emphasising the importance of early diagnosis and timely intervention to improve outcomes.
BMJ Case Rep
· 2026 Jun · PMID 42248595
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Histiocytic sarcoma (HS) of the small intestine is exceedingly rare. We report a woman in her early 50s who presented with acute abdominal pain and was found to have two synchronous jejunal intussusceptions caused by mul...Histiocytic sarcoma (HS) of the small intestine is exceedingly rare. We report a woman in her early 50s who presented with acute abdominal pain and was found to have two synchronous jejunal intussusceptions caused by multifocal HS. Emergency laparoscopy converted to open resection revealed multiple jejunal tumours; pathology confirmed HS with mesenteric nodal metastasis. Although 13 tumours were identified, only two lesions served as lead points for intussusception. All tumorous lesions were resected. The patient was recommended adjuvant therapy but declined and died 12 months later. This case underscores the need to consider rare neoplasms in adult intussusception, perform thorough intraoperative exploration and obtain extensive histopathology and immunohistochemistry for diagnosis.
Okamoto Y, Ishiyama K, Chonabayashi K
… +7 more, Kanda J, Kawai M, Fukuda A, Nannya Y, Ogawa S, Yamashita K, Takaori A
BMJ Case Rep
· 2026 Jun · PMID 42248594
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T-cell large granular lymphocyte leukaemia (T-LGLL) is a chronic lymphoproliferative disorder often associated with pure red cell aplasia (PRCA). We report a unique case of a woman in her 50s presenting with PRCA seconda...T-cell large granular lymphocyte leukaemia (T-LGLL) is a chronic lymphoproliferative disorder often associated with pure red cell aplasia (PRCA). We report a unique case of a woman in her 50s presenting with PRCA secondary to T-LGLL, in which targeted next-generation sequencing identified a somatic P715L mutation. This variant, previously described only in germline mutation in gain-of-function syndrome, has not been reported as a somatic mutation in T-LGLL. Immunohistochemical analysis revealed constitutive STAT3 (signal transducer and activator of transcription 3) activation in clonal CD8 T cells, suggesting a pathogenic role for the P715L mutation. The patient responded to ciclosporin therapy with gradual haematological improvement and became transfusion-independent within 6 months. This case highlights the importance of molecular profiling in T-LGLL presentations and expands the known mutational spectrum of It also raises the possibility that non-SH2 (Src homology 2) domain mutations may contribute to disease pathogenesis and influence treatment response in T-LGLL.
BMJ Case Rep
· 2026 Jun · PMID 42248593
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Primary mucocutaneous tuberculosis of the lower lip, without pulmonary or systemic involvement, is an uncommon presentation of cutaneous tuberculosis. The rare combination of lower lip swelling, vermilion border beading,...Primary mucocutaneous tuberculosis of the lower lip, without pulmonary or systemic involvement, is an uncommon presentation of cutaneous tuberculosis. The rare combination of lower lip swelling, vermilion border beading, gingival hyperplasia and nasal crusting, as seen in our adolescent patient further adds to the atypical nature of the disease while also highlighting diagnostic complexity. We therefore urge dermatologists to keep a high index of clinical suspicion and undertake relevant investigations to actively rule out tuberculosis especially in endemic areas in cases of chronic non-healing lip lesions.
Bharti N, Sureka SK, Singh UP
… +2 more, Gupta O, Rao RN
BMJ Case Rep
· 2026 Jun · PMID 42242785
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Von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome predisposing to renal cell carcinoma (RCC), typically considered more indolent than sporadic RCC. The '3 cm rule' has guided nephron-sparing interventions,...Von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome predisposing to renal cell carcinoma (RCC), typically considered more indolent than sporadic RCC. The '3 cm rule' has guided nephron-sparing interventions, as tumours smaller than 3 cm rarely metastasise. However, accumulating evidence suggests this paradigm is not universal, with some VHL-associated RCCs demonstrating aggressive biological behaviour despite their small size. We report two cases of aggressive clear cell RCC (ccRCC) in patients with suspected VHL. The first case involved a middle-aged male presenting with bilateral renal tumours, an inferior vena cava tumour thrombus and synchronous liver metastases. He underwent right radical nephrectomy with thrombectomy and contralateral partial nephrectomy, with histopathology confirming ccRCC, WHO/ISUP grade 2, with metastatic deposits. The second case was a young male with a large unilateral renal mass showing sarcomatoid and rhabdoid differentiation, WHO/ISUP grade 4, staged pT3a, consistent with aggressive ccRCC. Both presentations deviated from the traditionally indolent course of VHL-associated RCC, underscoring the heterogeneity of tumour biology. These cases highlight the limitations of strict size-based management, emphasising the importance of vigilant surveillance, histopathological assessment and early genetic evaluation. Recognition of aggressive variants is essential to optimise surgical planning and multidisciplinary management in VHL patients.
BMJ Case Rep
· 2026 Jun · PMID 42236110
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A man in his late 60s with a history of arterial hypertension, dyslipidaemia and a cerebrovascular accident 20 years ago presented to the emergency department with sudden-onset blurred vision in his right eye, accompanie...A man in his late 60s with a history of arterial hypertension, dyslipidaemia and a cerebrovascular accident 20 years ago presented to the emergency department with sudden-onset blurred vision in his right eye, accompanied by pain, dizziness, sweating and high blood pressure (160/110 mmHg). Ophthalmic examination revealed a decreased visual acuity in the right eye (less than 6/60), with best corrected visual acuity of 6/7.5. Fundoscopy showed retinal cholesterol emboli and ischaemic changes. Carotid duplex ultrasound indicated possible stenosis of the internal carotid artery. The patient was started on antiplatelet therapy with acetylsalicylic acid and 24-hour cardiac telemetry monitoring. A brain MRI performed 2 days later showed acute ischaemic infarcts in the right frontal and periventricular regions. Intracranial and cervical magnetic resonance angiography confirmed internal carotid artery occlusion with no flow in the intracranial portion.
BMJ Case Rep
· 2026 Jun · PMID 42236109
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Musculoskeletal anomalies are present in up to 50% of patients with prune belly syndrome (also known as Eagle-Barrett syndrome), requiring extensive orthopaedic management. However, to date, no established association ha...Musculoskeletal anomalies are present in up to 50% of patients with prune belly syndrome (also known as Eagle-Barrett syndrome), requiring extensive orthopaedic management. However, to date, no established association has been reported between prune belly syndrome and autoimmune inflammatory arthritis. We present a case with prune belly syndrome who developed multiple joint pain and swelling. Initially, these symptoms were attributed to postural and structural abnormalities associated with the underlying condition. However, further evaluation led to a diagnosis of a seropositive polyarticular juvenile idiopathic arthritis. The patient was subsequently treated with a biologic agent, resulting in marked improvement in mobility and overall quality of life.
Netterwala A, Mathew T, Bhardwaj S
… +1 more, Goddu Govindappa SK
BMJ Case Rep
· 2026 Jun · PMID 42236108
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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a NOTCH3-related small vessel disease that can mimic idiopathic normal pressure hydrocephalus (iNPH). A woman in her...Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a NOTCH3-related small vessel disease that can mimic idiopathic normal pressure hydrocephalus (iNPH). A woman in her late 70s presented with the classic iNPH triad: progressive gait disturbance with falls, urinary incontinence and cognitive decline. Brain MRI showed ventriculomegaly with periventricular hyperintensities and a narrow callosal angle (60°), supporting iNPH, but also revealed non-confluent white matter hyperintensities in the anterior temporal poles and external capsules; features strongly suggestive of CADASIL. A large-volume cerebrospinal fluid tap test produced no objective gait improvement. Family history disclosed a relative with similar gait/psychiatric illness and poor outcomes after shunting. Genetic testing confirmed a heterozygous pathogenic NOTCH3 variant, establishing CADASIL. This case underscores that 'NPH-compatible' imaging and a normal pressure hydrocephalus-like syndrome do not confirm iNPH; clinicians should consider CADASIL when tap test is negative and MRI/family history suggests small vessel vasculopathy.
Jain P, Alma N, Matada R
… +2 more, Murthy VR, Nagaraj K
BMJ Case Rep
· 2026 Jun · PMID 42236107
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Sterile infiltrates following collagen crosslinking (CXL) are an uncommon complication, typically reported in the early postoperative period. A patient in her mid-20s was diagnosed with keratoconus and underwent an uneve...Sterile infiltrates following collagen crosslinking (CXL) are an uncommon complication, typically reported in the early postoperative period. A patient in her mid-20s was diagnosed with keratoconus and underwent an uneventful CXL procedure. She demonstrated normal healing of the corneal epithelial defect postoperatively, and bandage contact lens was removed on postoperative day 4. The patient presented with peripheral corneal infiltrates on day 15 following surgery. The infiltrates were noted 1-2 mm from the limbus at the 8-10 o'clock position. Lid examination revealed mild Meibomian Gland Dysfunction (MGD) in both eyes. Autoimmune work up was unremarkable. A diagnosis of late-onset sterile keratitis was made, and topical steroids were intensified under antibiotic cover. The infiltrates resolved gradually over 3 weeks, leaving a residual scar. CXL may result in prolonged immune alterations in the cornea, rendering it more sensitive to antigenic stimuli.
BMJ Case Rep
· 2026 Jun · PMID 42236106
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A woman in her late 60s presented with right lower quadrant abdominal pain suggestive of acute appendicitis. Cross-sectional imaging demonstrated a dilated, fluid-filled appendix with mural enhancement, interpreted as co...A woman in her late 60s presented with right lower quadrant abdominal pain suggestive of acute appendicitis. Cross-sectional imaging demonstrated a dilated, fluid-filled appendix with mural enhancement, interpreted as concerning for appendiceal mucocele. Laparoscopic appendectomy was performed. Histopathologic examination revealed goblet cell adenocarcinoma invading into the subserosa (pT3) with involvement of the proximal resection margin. Completion right hemicolectomy was subsequently undertaken for definitive oncologic management and lymph node staging and revealed no residual carcinoma, with nine negative lymph nodes. Postoperative staging imaging showed no evidence of metastatic disease, and the patient was managed with oncologic surveillance. This case highlights the diagnostic limitation of imaging in differentiating appendiceal mucocele from invasive malignancy and underscores the importance of histopathologic evaluation and appropriate oncologic resection in goblet cell adenocarcinoma.
Sharafat MA, Khan ZA, Sohaib M
… +1 more, Dogar SA
BMJ Case Rep
· 2026 Jun · PMID 42236105
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A man in his 20s underwent wound debridement and external fixation for a femoral fracture sustained in a blast injury. Anaesthesia was induced with propofol and nalbuphine and the airway was secured with an i-gel larynge...A man in his 20s underwent wound debridement and external fixation for a femoral fracture sustained in a blast injury. Anaesthesia was induced with propofol and nalbuphine and the airway was secured with an i-gel laryngeal mask. About 45 min after induction, irrigation of the semiclosed wound with hydrogen peroxide was followed by a sudden fall in end-tidal carbon dioxide and tachycardia, which progressed rapidly to asystole. Cardiopulmonary resuscitation was started immediately, and tracheal intubation was performed during the first cycle of compressions. Return of spontaneous circulation occurred 6 min later. The patient recovered fully with no neurological or cardiovascular sequelae. The close temporal link between hydrogen peroxide irrigation and circulatory collapse was suggestive of intraoperative oxygen embolism, likely facilitated by oxygen liberation in a confined cavity. This case highlights the need to limit or avoid the use of hydrogen peroxide as irrigant whenever possible, and exercise caution and preparedness whenever its use becomes unavoidable.
BMJ Case Rep
· 2026 Jun · PMID 42230009
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Pancytopenia is a significant haematological finding with a broad differential, ranging from benign conditions to life-threatening malignancies. Copper deficiency is a recognised but uncommon cause of non-clonal cytopeni...Pancytopenia is a significant haematological finding with a broad differential, ranging from benign conditions to life-threatening malignancies. Copper deficiency is a recognised but uncommon cause of non-clonal cytopenias. We report a case of copper deficiency in a woman in her 80s who presented with urolithiasis and was found to have acute pancytopenia. A thorough evaluation identified undetectable copper levels despite the absence of classic risk factors such as gastrointestinal surgery, malabsorptive disorders or zinc supplementation. Our patient's copper deficiency was most likely multifactorial arising from insufficient dietary intake and chronic mild gastrointestinal dysfunction. Emerging evidence suggests that hypocupremia may be more common than previously appreciated, and clinicians should consider copper deficiency in the differential diagnosis of pancytopenia.
Ng YT, Loh AHP, Lee YT
… +3 more, Fortier M, Jacobsen A, Rai R
BMJ Case Rep
· 2026 Jun · PMID 42230008
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Currarino syndrome is a rare condition with an incidence of approximately 1 in 100,000. It is characterised by the triad of a sacral defect, a presacral mass and anal atresia or stenosis, and it is commonly associated wi...Currarino syndrome is a rare condition with an incidence of approximately 1 in 100,000. It is characterised by the triad of a sacral defect, a presacral mass and anal atresia or stenosis, and it is commonly associated with genetic mutations in the gene.We report a case of an infant presenting with recurrent right gluteal abscess secondary to an infected sacrococcygeal teratoma, associated with anal stenosis. Extensive workup was performed to investigate for the source of her recurrent gluteal abscess and anal stenosis, leading to the diagnosis of Currarino syndrome. She underwent multiple surgical procedures, including excision of the infected teratoma, and remains on multidisciplinary surveillance for disease recurrence.Although sacrococcygeal teratomas are not uncommon, they rarely present as gluteal abscesses. Such atypical presentations are difficult to diagnose and can mimic common acute surgical conditions. We discuss the diagnostic and therapeutic challenges faced when managing such cases.
BMJ Case Rep
· 2026 Jun · PMID 42230007
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A man in his 40s who takes adalimumab for Crohn's disease presented with a 1-day history of fever, headache and rapid onset of agitation with reduced consciousness. He was intubated, and a subsequent lumbar puncture reve...A man in his 40s who takes adalimumab for Crohn's disease presented with a 1-day history of fever, headache and rapid onset of agitation with reduced consciousness. He was intubated, and a subsequent lumbar puncture revealed severe meningitis. He was started on antibiotics and steroids; however, on sedation hold, he demonstrated abnormal posturing. Neurological imaging revealed extensive cerebral venous sinus thromboses (CVSTs). He was started on a heparin infusion and transferred to a tertiary neurological centre, where he was managed with a split treatment dose of enoxaparin and a 2-week course of IV ceftriaxone. He was extubated on day 4 of admission and made rapid improvements in cognition and function. This case highlights the importance of considering rare neurological complications in cases of severe meningitis in patients who are immunocompromised, as well as recognising CVSTs as a rare but potentially fatal complication in those with pneumococcal meningitis.