{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T14:14:18Z","timestamp":1740147258524,"version":"3.37.3"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,6,3]],"date-time":"2022-06-03T00:00:00Z","timestamp":1654214400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,6,3]],"date-time":"2022-06-03T00:00:00Z","timestamp":1654214400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Type 1 neurodegeneration with brain iron accumulation is a rare neurological disorder with estimated prevalence of one to two per million persons worldwide, characterized by progressive degeneration of basal ganglia, globus pallidus, and reticular part of substantia nigra, produced by brain iron accumulation due to a defect in the gene producing pantothenate kinase 2. Clinical presentations include dystonia, dysarthria, dysphagia, dementia, severe mental retardation, and severe movement disability at later stages. The characteristic pattern on brain magnetic resonance imaging shows the \u201ceye of the tiger\u201d sign. Treatment in late stages is mainly symptomatic. We report the case of a Cuban boy with high-severity brain iron accumulation, with positive clinical and imaging findings diagnosed in a late stage of the illness. This degree of severity has never been reported in Cuba and is rarely reported worldwide.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We present the case of a 19-year-old male white Cuban boy who presented to our department with features of spasticity, dystonia, gait difficulty, dysarthria, dysphagia, aggressiveness, and sleep disorders. He was diagnosed with pantothenate kinase-associated neurodegeneration on the basis of clinical findings and typical \u201ceye of the tiger\u201d pattern on brain magnetic resonance imaging. Detailed evaluation was carried out, and symptomatic treatment and physiotherapy were started with trihexyphenidyl, cabergoline, baclofen, and intramuscular botulinum neurotoxin as well as daily home sessions of passive stretching, weight bearing, and muscle massaging. At 3 months reevaluation, the patient showed a great improvement of motor function, with a decrease of dystonic symptoms, although language, cognition, and functional independence showed no improvement. The prognosis of the patient remains reserved.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>The diagnosis can be made based on the presence of clinical and imaging features. The presence of \u201ceye-of-the-tiger\u201d sign on magnetic resonance imaging must be considered a nearly pathognomonic sign of neurodegeneration with brain iron accumulation presence. Treatment after high-severity presentation remains directed toward symptomatic findings. Both dopamine agonists and anticholinergic agents are useful to treat motor symptoms, but there is not yet an effective treatment to stop the underlying degeneration. New therapeutic approaches are needed to counteract late stages of the disease and improve prognosis.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13256-022-03430-7","type":"journal-article","created":{"date-parts":[[2022,6,2]],"date-time":"2022-06-02T23:03:42Z","timestamp":1654211022000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Type 1 neurodegeneration with brain iron accumulation: a case report"],"prefix":"10.1186","volume":"16","author":[{"given":"Pedro Enrique","family":"Labrada-Aguilera","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6998-5221","authenticated-orcid":false,"given":"David Armando","family":"Guach-Hevia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8483-201X","authenticated-orcid":false,"given":"Carlos Rafael","family":"Almira-G\u00f3mez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel Alejandro","family":"Gonz\u00e1lez-Lago","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,6,3]]},"reference":[{"issue":"5","key":"3430_CR1","doi-asserted-by":"publisher","first-page":"521","DOI":"10.1016\/j.parkreldis.2015.02.006","volume":"21","author":"A Tomi\u0107","year":"2015","unstructured":"Tomi\u0107 A, Petrovi\u0107 I, Svetel M, Dobri\u010di\u0107 V, Draga\u0161evi\u0107Mi\u0161kovi\u0107 N, Kostic VS. 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A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"None to declare.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"217"}}