Phys Clinical Cases · neurological
Neurocutaneous Syndromes — DCE Clinical Case
DCE long-case and short-case station for Neurocutaneous Syndromes.
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Neurocutaneous Syndromes — Clinical Case
DCE Long Case
Patient brief
Patient: A middle-aged or older adult with multimorbidity and a presentation centred on Neurocutaneous Syndromes. [1]
Presenting complaint: Subacute or acute symptoms referable to Neurocutaneous Syndromes, with enough detail to force prioritisation. [1] [2]
Past history: Common cardiometabolic and organ comorbidities that interact with the plan. [2]
Medications: A polypharmacy list that includes at least one interaction or dosing issue. [2]
Examination: Key positives and critical negatives for dangerous differentials. [1]
Investigations: A small set of results that change management. [1] [2]
Tasks
- Present a prioritised problem list. [1]
- Defend investigations and immediate therapy. [1] [2]
- Provide safety-net and follow-up advice. [2]
Model discussion points
- Working diagnosis and acuity. [1]
- Differentials and discriminators. [2]
- Treatment sequence and monitoring. [1] [2] [3]
- Multimorbidity and communication. [2]
Short case
Focused examination or counselling station linked to Neurocutaneous Syndromes, with one interpretation task and one shared-decision point. [1] [2]
References
- [1]Zhang S, Yang G Neurofibromin in bone disease: Mechanisms and therapeutic implications (Review) Int J Mol Med, 2026.PMID 42464674
- [2]Calonge Q, Hanin A, Dade M, Bailly L, et al. Epilepsy and disability in adults with tuberous sclerosis complex: a 16-year retrospective analysis J Neurol, 2026.PMID 42458074
- [3]Zeppieri M, D'Esposito F, Gagliano C, Battista M, et al. Looking at Optic Nerve Sheath Meningiomas Through Genetics-From Clinic to Bench and Back Again Front Biosci (Schol Ed), 2026.PMID 42411653
- [4]Erdem S, Amparore D, Re C, Verep S, et al. What should the urologist know on the management of kidney cancer in patients with Von Hippel-Lindau syndrome? Recommendations of the European Association of Urology (EAU) Young Academic Urologists (YAU) Renal Cancer Working Group World J Urol, 2026.PMID 42373875
- [5]Pawlak KM, Jagielski M, Papanikolaou IS, Hong W, et al. Pancreatic cystic lesions in hereditary syndromes: Diagnostic role of endoscopic ultrasound Best Pract Res Clin Gastroenterol, 2026.PMID 42167859
- [6]Miranda M, Ferreira C, Fernandes M, Lopes F, et al. Hereditary renal cell carcinoma surveillance protocols: a review of the literature and proposed recommendations Fam Cancer, 2026.PMID 41518461
- [7]Xi Y, Yao T, Zhang C, Zhuang T Effectiveness of safety care and clinical nursing pathway in patients undergoing cardiovascular intervention: a randomized controlled trial Perioper Med (Lond), 2026.PMID 42469924
- [8]Marks FJ, Walters SJ, Sutton L, Jacques RM What statistical methods are more appropriate for predicting recruitment at the design stage of a randomised controlled trial? Trials, 2026.PMID 42469922