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Background: Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder characterized by a facial port-wine birthmark, leptomeningeal angiomatosis, and glaucoma. This case report highlights the challenges of diagnosing SWS when presenting with atypical features. Here, the authors present a 55-year-old man with an extrafacial port-wine stain and delayed-onset seizures, deviating from the classic triad. Case presentation: A 55-year-old man presented with a recent seizure and a characteristic port-wine birthmark extending beyond the typical facial region. Neurological examination revealed no weakness, speech difficulties, or coordination problems. Ophthalmological examination didn't reveal glaucoma. Limited resources restricted access to advanced imaging like MRI scans. However, based on the constellation of clinical findings, including the facial birthmark with angiomatosis and the new-onset seizure, the patient received a diagnosis of SWS. Treatment with Levetiracetam was initiated to prevent future seizures, and patient education on managing diabetes and hypertension was provided. Clinical discussion: This case underscores the importance of considering SWS in diagnosing adult-onset seizures, especially with a characteristic facial birthmark. The delayed presentation and isolated seizure suggest potentially less severe brain involvement. Resource limitations necessitated a clinical diagnosis and treatment with readily available medications. Conclusion: This case highlights the challenges of diagnosing atypical SWS presentations. Early diagnosis is crucial for prompt management and improved patient outcomes. Future research should focus on developing robust diagnostic tools and exploring novel treatment options for atypical SWS presentations.
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Key Clinical Message: Unilateral opercular lesions can result in Foix-Chavany-Marie syndrome, which is marked by acute anarthria, automatic-voluntary movement dissociation-most notably the absence of voluntary facial and tongue movements-and a generally better prognosis. Better patient outcomes are mostly dependent on early detection, management, and rehabilitation. Abstract: Opercular syndrome is a rare neurological disorder caused by bilateral or unilateral lesions of the operculum that result in symptoms related to speech and swallowing difficulties with dissociation of automatic-voluntary movements in affected muscles. 78-year-old female presented with acute onset dysarthria, left sided facial deviation and difficulties in chewing, speaking, and swallowing. CT head revealed ischemic changes in left frontal operculum and was diagnosed with the unilateral opercular syndrome. The case was managed according to ischemic stroke protocol. The patient was discharged after 7 days of hospital stay, with MRS 2, NIHSS 9 and secondary stroke preventive measures. At 4 months follow-up, her MRS was 1, with mild dysarthria, that could be understood, and her swallowing improved to some amount of drooling while feeding. Early recognition, treatment, and rehabilitation play important role in prompt improvement of symptoms.
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Malignant atrophic papulosis sometimes known as Degos' disease is an idiopathic, uncommon condition with fewer than 200 occurrences documented. It is a chronic thrombo-obliterative vasculopathy characterised by papular skin lesions with a core porcelain-white atrophy and a surrounding telangiectatic border. We report a 15-year-old male patient with a recurrent history of hollow viscus perforation, which was managed on all the occasions with exploratory laparotomy and primary perforation repair. Additionally, the patient had a five month history of numerous, non-itchy, atrophic papules with a core porcelain-like area and hyperkeratotic margins, characteristic of Degos' disease. The only basis for diagnosis is the distinctive skin lesions with biopsy. Along with systemic lupus erythematosus and other connective tissue diseases, tuberculosis must also be taken into account while assessing the clinical presentation of malignant atrophic papulosis. There is currently no known treatment for malignant atrophic papulosis that has been effective. Keywords: case reports; intestinal perforation; malignant atrophic papulosis; ulcer; vasculitis.
