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Mevalonic aciduria is a rare autosomal recessive disorder resulting from mevalonate kinase deficiency. Neuroimaging findings associated with the disease have been documented in only a few case reports. We present a case of mevalonic aciduria with both already reported and novel neuroimaging findings and conduct a literature review regarding the role of neuroimaging in the understanding and diagnosis of mevalonate kinase deficiency disorders. The brain magnetic resonance imaging of the reported case revealed several notable findings, including polymicrogyric cortical thickening, an interhypothalamic adhesion or small hypothalamic hamartoma (findings not classically associated with mevalonic aciduria), and mild cerebellar atrophy. This case underscores the significance of recognizing the diverse spectrum of neuroimaging findings associated with the disease, encompassing both well-documented features and those that have not been traditionally reported.

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OBJECTIVES: Pathogenic variants in presenilin 1 (PSEN1) are related to early-onset Alzheimer disease (AD) and may occur as de novo variants. In comparison with sporadic forms, it can present with psychiatric manifestations, seizures, myoclonus, and focal presentation. Because PSEN1 can occur in young patients who lack a family history of neurologic disorders and because these symptoms are also frequent in autoimmune encephalitis (AE), diagnosis may be overlooked. Our aim was to demonstrate the challenge in diagnosing young patients with neurodegenerative diseases that simulate AE. METHODS: We describe a case of a young patient with insidious progressive dementia, myoclonus, seizures, and aphasia, with no family history of dementia, along with signs suggestive of neuroinflammation on brain MRI and CSF examination. RESULTS: She was initially misdiagnosed as having AE. Further investigation was performed, leading to the discovery of a novel and de novo pathogenic variant in PSEN1. DISCUSSION: This case demonstrates the importance of considering PSEN1 in young patients with insidious progressive dementia with atypical clinical and neuroimaging features, even in patients without a family history of neurologic disorders. Not adhering to published criteria of possible and probable AE and overinterpretation of subtle inflammatory findings in CSF and MRI contribute to misdiagnosis.

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Importance: Physical abuse is a common but preventable cause of long-term childhood morbidity and mortality. Despite the strong association between abuse in an index child and abuse in contact children, there is no guidance outlining how to screen the latter, significantly more vulnerable group, for abusive injuries. Consequently, the radiological assessment of contact children is often omitted, or variably performed, allowing occult injuries to go undetected and increasing the risk of further abuse. Objective: To report an evidence-based and consensus-derived set of best practices for the radiological screening of contact children in the context of suspected child physical abuse. Evidence Review: This consensus statement is supported by a systematic review of the literature and the clinical opinion of an internationally recognized group of 26 experts. The modified Delphi consensus process comprised 3 meetings of the International Consensus Group on Contact Screening in Suspected Child Physical Abuse held between February and June 2021. Findings: Contacts are defined as the asymptomatic siblings, cohabiting children, or children under the same care as an index child with suspected child physical abuse. All contact children should undergo a thorough physical examination and a history elicited prior to imaging. Contact children younger than 12 months should have neuroimaging, the preferred modality for which is magnetic resonance imaging, and skeletal survey. Contact children aged 12 to 24 months should undergo skeletal survey. No routine imaging is indicated in asymptomatic children older than 24 months. Follow-up skeletal survey with limited views should be performed if abnormal or equivocal at presentation. Contacts with positive findings should be investigated as an index child. Conclusions and Relevance: This Special Communication reports consensus recommendations for the radiological screening of contact children in the context of suspected child physical abuse, establishing a recognized baseline for the stringent evaluation of these at-risk children and providing clinicians with a more resilient platform from which to advocate for them.

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Adenosine kinase (ADK) deficiency is a very rare inborn error of methionine and adenosine metabolism. It is characterized by developmental delay, hypotonia, epilepsy, facial dysmorphism, failure to thrive, transient liver dysfunction with cholestasis, recurrent hypoglycemia, and cardiac defects. Only 26 cases (16 families) of ADK deficiency have been published since its identification in 2011. Vascular abnormalities in cervical arteries and cerebral stroke have never been reported in this condition. Here, we describe two patients with ADK deficiency and vascular tortuosity leading to stroke in one of them. ADK deficiency is a rare inborn error of methionine metabolism with a complex phenotype that might be associated with cerebrovascular abnormalities and stroke.

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Toxic and metabolic brain disorders are relatively uncommon diseases that affect the central nervous system, but they are important to recognize as they can lead to catastrophic outcomes if not rapidly and properly managed. Imaging plays a key role in determining the most probable diagnosis, pointing to the next steps of investigation, and providing prognostic information. The majority of cases demonstrate bilateral and symmetric involvement of structures at imaging, affecting the deep gray nuclei, cortical gray matter, and/or periventricular white matter, and some cases show specific imaging manifestations. When an appropriate clinical situation suggests exogenous or endogenous toxic effects, the associated imaging pattern usually indicates a restricted group of diagnostic possibilities. Nonetheless, toxic and metabolic brain disorders in the literature are usually approached in the literature by starting with common causal agents and then reaching imaging abnormalities, frequently mixing many different possible manifestations. Conversely, this article proposes a systematic approach to address this group of diseases based on the most important imaging patterns encountered in clinical practice. Each pattern is suggestive of a most likely differential diagnosis, which more closely resembles real-world scenarios faced by radiologists. Basic pathophysiologic concepts regarding cerebral edemas and their relation to imaging are introduced-an important topic for overall understanding. The most important imaging patterns are presented, and the main differential diagnosis for each pattern is discussed. Online supplemental material is available for this article. ©RSNA, 2019.

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The ability to repeat words is almost always preserved in thalamic aphasia. The pathophysiology of both thalamic aphasia and preservation of repetition are not fully understood. In a case of severe aphasia with preserved repetition after a left thalamic hemorrhage, MRI disclosed left thalamic lesion and loss of fractional anisotropy in the left centrum semiovale. FDG-PET showed severe hypometabolism in the left cerebral hemisphere, except for superior and transverse temporal gyri, calcarine fissure and frontopolar regions. Primary sensory function may be less functionally dependent on thalamic connections than heteromodal and paralimbic areas, which have connections with several thalamic nuclei. The extensive cortical hypometabolism due to diaschisis may have been responsible for the severity of the aphasia, whereas the less severe reduction of metabolism in the superior and transverse temporal gyri, and also, albeit less evident, in Broca's area, might explain the preservation of repetition.

A capacidade de repetir palavras é quase sempre preservada na afasia talâmica. A fisiopatologia da afasia talâmica assim como a da preservação da repetição não são totalmente compreendidas. Em um caso de afasia grave com repetição preservada após hemorragia talâmica esquerda, a RM revelou lesão talâmica esquerda e perda de anisotropia fracionada no centro semioval. O FDG-PET revelou hipometabolismo grave no hemisfério cerebral esquerdo, exceto nos giros temporais superiores e transversos, fissura calcarina e regiões frontopares. A função sensorial primária pode ser menos funcionalmente dependente das conexões talâmicas do que as áreas heteromodais e paralímbicas, que têm conexões com vários núcleos talâmicos. O hipometabolismo cortical extenso devido à diasquise pode ter sido responsável pela gravidade da afasia, enquanto a redução menos severa do metabolismo nos giros temporal superior e transverso, e também, embora menos evidente, na área de Broca, poderia explicar a preservação da repetição.

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ABSTRACT. The ability to repeat words is almost always preserved in thalamic aphasia. The pathophysiology of both thalamic aphasia and preservation of repetition are not fully understood. In a case of severe aphasia with preserved repetition after a left thalamic hemorrhage, MRI disclosed left thalamic lesion and loss of fractional anisotropy in the left centrum semiovale. FDG-PET showed severe hypometabolism in the left cerebral hemisphere, except for superior and transverse temporal gyri, calcarine fissure and frontopolar regions. Primary sensory function may be less functionally dependent on thalamic connections than heteromodal and paralimbic areas, which have connections with several thalamic nuclei. The extensive cortical hypometabolism due to diaschisis may have been responsible for the severity of the aphasia, whereas the less severe reduction of metabolism in the superior and transverse temporal gyri, and also, albeit less evident, in Broca's area, might explain the preservation of repetition.

RESUMO. A capacidade de repetir palavras é quase sempre preservada na afasia talâmica. A fisiopatologia da afasia talâmica assim como a da preservação da repetição não são totalmente compreendidas. Em um caso de afasia grave com repetição preservada após hemorragia talâmica esquerda, a RM revelou lesão talâmica esquerda e perda de anisotropia fracionada no centro semioval. O FDG-PET revelou hipometabolismo grave no hemisfério cerebral esquerdo, exceto nos giros temporais superiores e transversos, fissura calcarina e regiões frontopares. A função sensorial primária pode ser menos funcionalmente dependente das conexões talâmicas do que as áreas heteromodais e paralímbicas, que têm conexões com vários núcleos talâmicos. O hipometabolismo cortical extenso devido à diasquise pode ter sido responsável pela gravidade da afasia, enquanto a redução menos severa do metabolismo nos giros temporal superior e transverso, e também, embora menos evidente, na área de Broca, poderia explicar a preservação da repetição.

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BACKGROUND: Neurotoxoplasmosis is a common opportunistic infection in HIV/AIDS patients. Imaging identification of neurotoxoplasmosis assists in timely treatment. PURPOSE: To delineate the frequency of imaging abnormalities in patients with neurotoxoplasmosis on different MR sequences with a particular focus on SWI, and NCCT. MATERIAL AND METHODS: The PACS database was retroactively searched over a 5-year period for patients with neurotoxoplasmosis who underwent MRI with SWI. Included patients had imaging features of neurotoxoplasmosis based on consensus review by two neuroradiologists, a clinical diagnosis of neurotoxoplasmosis at the time of MRI, and diagnostic confirmation based on positive serum or CSF serology or histopathology; 15 patients were included. The number of abnormal foci with restricted diffusion, increased FLAIR signal, intrinsic T1 hyperintensity, abnormal enhancement (CE-T1WI), and intrinsic hyperdensity on CT were recorded. RESULTS: Intralesional susceptibility signal (ISS) foci on SWI were observed in 93.3% of patients with neurotoxoplasmosis (mean size 5.2 ±â€¯3.8 mm). The average number of ISS foci was 3.9 per patient; 3/15 (20.0%) had a single ISS. Amongst other MR sequences, hyperintense FLAIR foci were the most common abnormalities observed (12.4 lesions/patient), followed by enhancing foci (8.2 lesions/patient), foci of restricted diffusion (7.1 lesions/patient), and intrinsic T1 hyperintense foci (3.4 lesions/patient). Abnormalities were least frequently observed on NCCT: abnormalities were identified in 5/15 (33.3%) patients, at a rate of 0.4 lesions/patient. CONCLUSION: ISS foci are present in the vast majority of neurotoxoplasmosis patients, likely representing hemorrhage. The incidence and frequency of other abnormal foci are highest on FLAIR, and lowest on NCCT.

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Parkinson's disease (PD) is a neurodegenerative disorder that affects motor skills and cognition. As brain structure and function are compromised, functional magnetic resonance imaging (fMRI) can be a helpful tool to further investigate how intrinsic connectivity is impaired on the disease. The precuneus and medial prefrontal cortex (mPFC) are hub regions involved on the default mode network (DMN), a system that is active during rest and related to cognitive processes. We hypothesized that PD patients would present a decrease in functional connectivity among these two regions and the rest of the brain. Our goal was to identify regions in which functional connectivity to precuneus and mPFC was altered in PD. This study was based on resting-state fMRI data from 37 healthy subjects and 55 PD patients. Precuneus and mPFC were selected as seed regions in a whole brain functional connectivity mapping. As expected, we found abnormal connectivity from precuneus to motor system regions in PD patients, pointing toward a decreased connectivity in the disease. No significant group effects were found for the mPFC. Our findings suggest that internetwork connectivity from DMN to motor system is impaired in PD.

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OBJECTIVES: Our goal was to estimate the diagnostic accuracy of substantia nigra fractional anisotropy (SN-FA) for Parkinson's disease (PD) diagnosis in a sample similar to the clinical setting, including patients with essential tremor (ET) and healthy controls (HC). We also performed a systematic review and meta-analysis to estimate mean change in SN-FA induced by PD and its diagnostic accuracy. METHODS: Our sample consisted of 135 subjects: 72 PD, 21 ET and 42 HC. To address inter-scanner variability, two 3.0-T MRI scans were performed. MRI results of this sample were pooled into a meta-analysis that included 1,432 subjects (806 PD and 626 HC). A bivariate model was used to evaluate diagnostic accuracy measures. RESULTS: In our sample, we did not observe a significant effect of disease on SN-FA and it was uninformative for diagnosis. The results of the meta-analysis estimated a 0.03 decrease in mean SN-FA in PD relative to HC (CI: 0.01-0.05). However, the discriminatory capability of SN-FA to diagnose PD was low: pooled sensitivity and specificity were 72 % (CI: 68-75) and 63 % (CI: 58-70), respectively. There was high heterogeneity between studies (I2 = 91.9 %). CONCLUSIONS: SN-FA cannot be used as an isolated measure to diagnose PD. KEY POINTS: • SN-FA appears insufficiently sensitive and specific to diagnose PD. • Radiologists must be careful when translating mean group results to clinical practice. • Imaging protocol and analysis standardization is necessary for developing reproducible quantitative biomarkers.

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BACKGROUND: Association of leukoencephalopathy and atypical mycobacteriosis has been rarely reported. We present a case that is relevant for its unusual presentation and because it may shed further light on the pathogenic mechanisms underlying reversible encephalopathies. CASE REPORT: We report the case of a Hispanic 64-year-old woman with cognitive decline and extensive leukoencephalopathy. Magnetic resonance imaging revealed white-matter lesions with increased water diffusivity, without blood-brain-barrier disruption. Brain biopsy showed tissue rarefaction with vacuolation, mild inflammation, few reactive astrocytes and decreased aquaporin water-channel expression in the lesions. Six months later, she was diagnosed with atypical mycobacterial pulmonary infection. Brain lesions resolved after antimycobacterial treatment. CONCLUSION: We hypothesize leukoencephalopathic changes and vasogenic edema were associated with decreased aquaporin expression. Further studies should clarify if reversible leukoencephalopathy has a causal relationship with decreased aquaporin expression and atypical mycobacterial infection, and mechanisms underlying leukoencephalopathy resolution after antimycobacterial treatment. This article may contribute to the understanding of pathogenic mechanisms underlying magnetic resonance imaging subcortical lesions and edema, which remain incompletely understood.

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Objective To describe characteristics of REM sleep behavior disorder in Wilson’s disease. Method Questionnaire-based interviews (patients and relatives), neurological examinations, two-week prospective dream-diary, video-polysomnography, transcranial sonography, MRI. Results Four Wilson’s disease cases with REM sleep behavior disorder were described; three had REM sleep behavior disorder as initial symptom. All showed mesencephalic tegmental/tectal sonographic hyperechogenicities and two presented ponto-mesencephalic tegmental MRI hyperintensities. Conclusion This first description of REM sleep behavior disorder in Wilson’s disease in literature documents REM sleep behavior disorder as a possible presenting symptom of Wilson’s disease and adds further evidence to the parallelism of Parkinson’s disease and Wilson’s disease in phenotype and brainstem topography, which ought to be further studied. REM sleep behavior disorder has prognostic relevance for neurodegeneration in α-synucleinopathies. In Wilson’s disease, usefulness of early diagnosis and treatment are already well established. REM sleep behavior disorder in Wilson’s disease offers a possible theoretical model for potential early treatment in this extrapyramidal and brainstem paradigm syndrome, previewing the possibility of neuroprotective treatment for REM sleep behavior disorder in “pre-clinical” Parkinson’s disease. .

Objetivo Descrever características do transtorno comportamental do sono REM (TCSR) na doença de Wilson (DW). Método Aplicação de entrevistas, vídeo-polissonografia, sonografia transcraniana (STC), ressonância magnética (RM), diário de sonhos. Resultados Descrevemos quatro casos de DW com TCSR. Três apresentaram o TCSR como primeira manifestação. Todos mostraram hiperecogenicidades mesencefálicas na STC, dois apresentaram hiperintensidades ponto-mesencefálicas na RM. Conclusão Esta é a primeira descrição do TCSR na DW. Relatamos o TCSR como um sintoma inicial da DW. Acrescentamos prova para o paralelismo entre a doença de Parkinson e DW, com relação aos fenótipos e localização das lesões cerebrais. Nas alfa-sinucleinopatias, o TCSR tem relevância prognóstica quanto à neurodegeneração. Na DW, já conhecemos a importância de diagnóstico e tratamento precoces. O TCSR na DW oferece um modelo para antecipar o tratamento desta síndrome de acometimento dos núcleos basais e tronco, vislumbrando a possibilidade de tratamento neuroprotetor para a fase “pré-clínica” da DP. .

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OBJECTIVE: To describe characteristics of REM sleep behavior disorder in Wilson's disease. METHOD: Questionnaire-based interviews (patients and relatives), neurological examinations, two-week prospective dream-diary, video-polysomnography, transcranial sonography, MRI. RESULTS: Four Wilson's disease cases with REM sleep behavior disorder were described; three had REM sleep behavior disorder as initial symptom. All showed mesencephalic tegmental/tectal sonographic hyperechogenicities and two presented ponto-mesencephalic tegmental MRI hyperintensities. CONCLUSION: This first description of REM sleep behavior disorder in Wilson's disease in literature documents REM sleep behavior disorder as a possible presenting symptom of Wilson's disease and adds further evidence to the parallelism of Parkinson's disease and Wilson's disease in phenotype and brainstem topography, which ought to be further studied. REM sleep behavior disorder has prognostic relevance for neurodegeneration in α-synucleinopathies. In Wilson's disease, usefulness of early diagnosis and treatment are already well established. REM sleep behavior disorder in Wilson's disease offers a possible theoretical model for potential early treatment in this extrapyramidal and brainstem paradigm syndrome, previewing the possibility of neuroprotective treatment for REM sleep behavior disorder in "pre-clinical" Parkinson's disease.

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Numerous congenital-genetic inborn errors of metabolism (CIEMs) have been identified and characterized in detail within recent decades, with promising therapeutic options. Neuroimaging is becoming increasingly utilized in earlier stages of CIEMs, and even in asymptomatic relatives of patients with a CIEM, so as to monitor disease progress and treatment response. This review attempts to summarize in a concise fashion the neuroimaging findings of various CIEMs that may present in adulthood, as well as those that may persist into adulthood, whether because of beneficial therapy or a delay in diagnosis. Notably, some of these disorders have neuroimaging findings that differ from their classic infantile or early childhood forms, whereas others are identical to their early pediatric forms. The focus of this review is their appearance on routine magnetic resonance imaging sequences, with some basic attention to the findings of such CIEMs on specialized neuroimaging, based on recent or preliminary research. The general classes of disorders covered in this complex review are: peroxisomal disorders (adrenoleukodystrophy), lysosomal storage disorders (including metachromatic leukodystrophy, Krabbe or globoid cell leukodystrophy, Fabry, Niemann-Pick, GM1, GM2, Gaucher, mucopolysaccharidoses, and Salla diseases), mitochondrial disorders (including mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes, myoclonic epilepsy with ragged red fibers, Leigh disease, and Kearns-Sayre syndrome), urea cycle disorders, several organic acidemias (including phenylketonuria, maple syrup urine disease, 3-hydroxy-3-methylglutaryl colyase deficiency, glutaric acidurias, methylmalonic academia, proprionic academia, 3-methylglucatonic aciduria, and 2-hydroxyglutaric acidurias), cytoskeletal or transporter molecule defects (including Alexander or fibrinoid leukodystrophy, proteolipid protein-1 defect or Pelizaeus Merzbacher, Wilson, and Huntington diseases), and several neurodegenerative disorders of brain iron accumulation. Additionally, an arbitrary "miscellaneous" category of 5 recognizable disorders that may present in or persist into adulthood is summarized, which include megalencephalic leukoencephalopathy with subcortical cysts (megancephalic leukoencephalopathy with subcortical cysts or van der Knaap disease), polymerase-III gene defect ("4H syndrome"), childhood ataxia with central nervous system hypomyelination ("vanishing white matter disease"), striopallidodentate calcinosis ("Fahr disease"), and Cockayne syndrome.

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Rapidly progressive dementia (RPD) is typically defined as a cognitive decline progressing to severe impairment in less than 1-2 years, typically within weeks or months. Accurate and prompt diagnosis is important because many conditions causing RPD are treatable. Neurosarcoidosis is often cited as an unusual reversible cause of RPD. METHODS: We report two cases of neurosarcoidosis presenting as RPD. RESULTS: Case 1: A 61-year-old woman developed a RPD associated with visual loss. In seven months she was dependent for self-care. Magnetic resonance imaging (MRI) revealed temporal and suprasellar brain lesions. Treatment with high-dose intravenous prednisolone was associated with partial improvement. Case 2: A 43-year-old woman who was being treated for diabetes insipidus developed a severe episodic amnesia one year after onset of cognitive symptoms. Previous MRI had shown a hypothalamic lesion and she had been treated with oral prednisone and cyclophosphamide. There was reduction of the MRI findings but no improvement in the cognitive deficits. Brain biopsy disclosed noncaseous granulomas and granulomatous angiitis; treatment was changed to high-dose intravenous methylprednisolone, with poor symptomatic response. CONCLUSION: The diagnosis of RPD due to neurosarcoidosis can be challenging when the disease is restricted to the nervous system. In these cases, clinical presentation of RPD associated with neuroendocrine and visual dysfunction, imaging findings showing hypothalamic lesions and, in some cases, brain biopsy, are the key to a correct diagnosis. It is possible that earlier diagnoses and treatment could have led to a better outcome in these patients.

Demência rapidamente progressiva (DRP) é tipicamente definida como um declínio cognitivo que progride para prejuízo funcional severo em menos de 1-2 anos, geralmente em semanas a meses. O diagnóstico rápido e acurado é fundamental, já que muitas condições que levam a DRP são reversíveis. MÉTODOS: Relatamos dois casos de neurosarcoidose que se apresentaram como DRP. RESULTADOS: Caso 1: Uma mulher de 61 anos desenvolveu uma DRP associada a perda de acuidade visual. Em sete meses evoluiu com dependência para auto-cuidado. A ressonância magnética (RM) revelou lesões encefálicas temporais e supraselares. Evoluiu com melhora parcial após tratamento com metilprednisolona intravenosa em altas doses. Caso 2: Uma mulher de 43 anos que estava em tratamento para diabetes insipidus desenvolveu uma amnésia episódica severa um ano após o início dos sintomas cognitivos. A RM anterior mostrava uma lesão hipotalâmica, e ela recebeu tratamento oral com prednisona e ciclofosfamida. Houve redução dos achados da RM, porem sem melhora dos déficits cognitivos. A biópsia cerebral mostrou granulomas não caseosos e angeíte granulomatosa; o tratamento foi modificado para metilprednisolona intravenosa em altas doses, com resposta sintomática pobre. CONCLUSÃO: O diagnóstico de DRP por neurosarcoidose pode ser desafiador quando a doença está restrita ao sistema nervoso central. Nestes casos, a apresentação clínica da DRP associada a disfunção neuroendócrina e visual, exames de imagem com lesões hipotalâmicas e, em alguns casos, a biópsia cerebral são fundamentais para um diagnóstico correto. é possível que o diagnóstico e tratamento precoces poderiam ter trazido melhores resultados nesses pacientes.

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Rapidly progressive dementia (RPD) is typically defined as a cognitive decline progressing to severe impairment in less than 1-2 years, typically within weeks or months. Accurate and prompt diagnosis is important because many conditions causing RPD are treatable. Neurosarcoidosis is often cited as an unusual reversible cause of RPD. METHODS: We report two cases of neurosarcoidosis presenting as RPD. RESULTS: Case 1: A 61-year-old woman developed a RPD associated with visual loss. In seven months she was dependent for self-care. Magnetic resonance imaging (MRI) revealed temporal and suprasellar brain lesions. Treatment with high-dose intravenous prednisolone was associated with partial improvement. Case 2: A 43-year-old woman who was being treated for diabetes insipidus developed a severe episodic amnesia one year after onset of cognitive symptoms. Previous MRI had shown a hypothalamic lesion and she had been treated with oral prednisone and cyclophosphamide. There was reduction of the MRI findings but no improvement in the cognitive deficits. Brain biopsy disclosed noncaseous granulomas and granulomatous angiitis; treatment was changed to high-dose intravenous methylprednisolone, with poor symptomatic response. CONCLUSION: The diagnosis of RPD due to neurosarcoidosis can be challenging when the disease is restricted to the nervous system. In these cases, clinical presentation of RPD associated with neuroendocrine and visual dysfunction, imaging findings showing hypothalamic lesions and, in some cases, brain biopsy, are the key to a correct diagnosis. It is possible that earlier diagnoses and treatment could have led to a better outcome in these patients.

Demência rapidamente progressiva (DRP) é tipicamente definida como um declínio cognitivo que progride para prejuízo funcional severo em menos de 1-2 anos, geralmente em semanas a meses. O diagnóstico rápido e acurado é fundamental, já que muitas condições que levam a DRP são reversíveis. MÉTODOS: Relatamos dois casos de neurosarcoidose que se apresentaram como DRP. RESULTADOS: Caso 1: Uma mulher de 61 anos desenvolveu uma DRP associada a perda de acuidade visual. Em sete meses evoluiu com dependência para auto-cuidado. A ressonância magnética (RM) revelou lesões encefálicas temporais e supraselares. Evoluiu com melhora parcial após tratamento com metilprednisolona intravenosa em altas doses. Caso 2: Uma mulher de 43 anos que estava em tratamento para diabetes insipidus desenvolveu uma amnésia episódica severa um ano após o início dos sintomas cognitivos. A RM anterior mostrava uma lesão hipotalâmica, e ela recebeu tratamento oral com prednisona e ciclofosfamida. Houve redução dos achados da RM, porem sem melhora dos déficits cognitivos. A biópsia cerebral mostrou granulomas não caseosos e angeíte granulomatosa; o tratamento foi modificado para metilprednisolona intravenosa em altas doses, com resposta sintomática pobre. CONCLUSÃO: O diagnóstico de DRP por neurosarcoidose pode ser desafiador quando a doença está restrita ao sistema nervoso central. Nestes casos, a apresentação clínica da DRP associada a disfunção neuroendócrina e visual, exames de imagem com lesões hipotalâmicas e, em alguns casos, a biópsia cerebral são fundamentais para um diagnóstico correto. é possível que o diagnóstico e tratamento precoces poderiam ter trazido melhores resultados nesses pacientes.