Neurodegeneration with brain iron accumulation: A case report

Nassif, Daniel; Pereira, Joäo Santos; Spitz, Mariana; Capitão, Cláudia; Faria, Alessandra N.

doi:10.1590/s1980-5764-2016dn1002014

Cited by 7 publications

(6 citation statements)

References 23 publications

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“…This is followed by additional progressive extrapyramidal symptoms: dystonia, chorea and parkinsonism 1 . The presence of dystonic opisthotonus or oromandibular dystonia suggests the inclusion of PKAN as a differential diagnosis 8 , which only supported our diagnostic hypothesis, since our patient had these symptoms. This motor regression is accompanied by cognitive decline and dementia.…”

Section: Case Reportsupporting

confidence: 66%

“…In the T2-weighted sequences, the globus pallidum shows a central hyperintense signal region circled by hypointense signal, as was demonstrated in our case. This pattern in the coronal section was termed the "eye of the tiger" 1,5,7,8 . The appearance of the tiger's eye is characterized by bilateral hypointensity located in the globus pallidum, and black substance with a central area of hyperintensity, best demonstrated in T2WI and other iron-sensitive sequences.…”

Section: Conflict Of Interest: the Authors Have No Conflicts Of Interest To Disclosementioning

confidence: 99%

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Neurodegeneration Associated with Pantothenate Kinase. Case reportNeurodegeneration Associated with Pantothenate Kinase. Case report

Costa¹,

Soares²,

Ferreira³

et al. 2018

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Neurodegeneration with Brain Iron Accumulation (NBIA) belongs to a group of disorders characterized by the predominant involvement of the basal ganglia. Patients may present psychiatric symptoms, extrapyramidal signs and cognitive decline. Few cases of this disease have been reported in Brazil. We present a typical NBIA case. This case has the classical signs and symptoms of NBIA in a woman with advanced/end-stage disease, in addition to the presence of cerebral atrophy, which is not a common finding.

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Section: Case Reportsupporting

confidence: 66%

Section: Conflict Of Interest: the Authors Have No Conflicts Of Interest To Disclosementioning

confidence: 99%

Neurodegeneration Associated with Pantothenate Kinase. Case reportNeurodegeneration Associated with Pantothenate Kinase. Case report

Costa¹,

Soares²,

Ferreira³

et al. 2018

jbnc

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“…Alterations in the basal ganglia are strongly associated with psychotic symptoms in the elderly [14], being the reported psychiatric symptoms most linked with the compromising of the pale globe dementia, maniac symptoms and compulsions [15]. The "eye of the tiger" sign in the MRI in the atypical form was associated with the PANK2 mutation [16,17].…”

Section: Discussionmentioning

confidence: 99%

Neurodegeneração com acúmulo de ferro no cérebro associada a sintomas psiquiátricos de início tardio

Santos

Ribeiro

Costa

et al. 2022

Debates em Psiquiatria

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Introdução: A neurodegeneração com acúmulo de ferro cerebral (NBIA) é um grupo heterogêneo de doenças genéticas raras que levam ao acúmulo de ferro nos gânglios da base, levando a inúmeras desordens neurológicas. Esta doença tem sido associada a muitos genes, sendo o PKAN2 o mais comum. O tratamento continua a ser maioritariamente sintomático e recomenda-se a abordagem baseada numa equipa multidisciplinar. Relato do caso: O caso apresentado é de um homem de 67 anos com acúmulo bilateral de ferro no globo pálido e delirium há 8 meses, além de disfunção visuoespacial e executiva e distúrbios comportamentais. A ressonância magnética do paciente mostrou anormalidades e o sinal "olho de tigre". Além disso, o tratamento de escolha foi a administração de antipsicóticos atípicos, que controlavam parcialmente o quadro do paciente. Discussão: A localização mais recorrente do acúmulo de ferro no cérebro é nos gânglios da base e está relacionada principalmente a mutações na pantotenato quinase 2 (PKAN2), que leva a manifestações psiquiátricas de progressão insidiosa e pode ser inferida quando o sinal é encontrado. o "olho do tigre" em uma ressonância magnética. Conclusão: O paciente foi diagnosticado com transtorno psicótico de início tardio, déficit cognitivo leve e síndrome parkisoniana. Não foram realizados testes genéticos para diagnosticar a etiologia. Portanto, o caso é considerado um NBIA de causa desconhecida com características atípicas e provável mutação ligada a PANK2.

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“…Wilson’s disease, neuroacanthocytosis, and the juvenile form of Huntington disease were ruled out. In addition, despite the lack of genetic tests, all subtypes of NBIA listed in Table 1 [ 5 ] were also considered.…”

Section: Case Descriptionmentioning

confidence: 99%

Type 1 neurodegeneration with brain iron accumulation: a case report

et al. 2022

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Background 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 “eye of the tiger” 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. Case presentation 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 “eye of the tiger” 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. Conclusion The diagnosis can be made based on the presence of clinical and imaging features. The presence of “eye-of-the-tiger” 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.

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Neurodegeneration with brain iron accumulation: A case report

Cited by 7 publications

References 23 publications

Neurodegeneration Associated with Pantothenate Kinase. Case reportNeurodegeneration Associated with Pantothenate Kinase. Case report

Neurodegeneration Associated with Pantothenate Kinase. Case reportNeurodegeneration Associated with Pantothenate Kinase. Case report

Neurodegeneração com acúmulo de ferro no cérebro associada a sintomas psiquiátricos de início tardio

Type 1 neurodegeneration with brain iron accumulation: a case report

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