Inherited leukoencephalopathies with clinical onset in middle and old age

Nannucci, Serena; Donnini, Ida; Pantoni, Leonardo

doi:10.1016/j.jns.2014.09.020

Cited by 4 publications

(2 citation statements)

References 122 publications

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“…CADASIL typically presents with migraines, imaging showing multiple infarcts over time, and a family history of strokes, but the patient did not have these clinical characteristics. Inherited disorders such as vanishing white matter disease; ADLD; fragile X-associated tremor/ataxia syndrome (X-linked); mitochondrial myopathy; encephalopathy, lactic acidosis, and stroke-like episodes; metachromatic leukodystrophy; Krabbe disease; and Fabry disease were precluded by age at onset and clinical and radiologic characteristics further described in Nannucci et al 1 In addition, an etiology such as poisoning with carbon monoxide or heavy metals were excluded by history and serum studies. After an extensive series of diagnostic studies, a brain biopsy and history of opioid use provided the final diagnosis of toxic leukoencephalopathy.…”

Section: Discussionmentioning

confidence: 99%

“…Wernicke encephalopathy is a key treatable diagnosis to consider, but the neuroimaging findings are less florid, typically involving the mammillary bodies, medial thalami, region around the third and fourth ventricles, and periaqueductal gray matter. 1 Whereas PACNS is an important consideration, the fact that 4-vessel cerebral angiography was normal makes this unlikely. CADASIL can also present with white matter changes and cognitive deterioration though there was no history of recurrent strokes or migraines.…”

Section: Mystery Case Responsesmentioning

confidence: 99%

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Mystery Case: A 48-year-old woman with bizarre behavior, neurologic symptoms, and progressive decline

et al. 2018

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Section 1A 48-year-old woman with an alcohol use disorder presented with a subacute onset of altered mental status. Two months prior to presentation, the patient recreationally used morphine, oxycodone, and heroin over the span of 1 week. At the end of this 7-day period, she experienced an episode of lethargy for approximately 24 hours and continued to be difficult to arouse during the following 2 days; however, she did not seek medical attention. She returned to her baseline functional status and remained asymptomatic until 3 weeks later, when she fell and hit her head, initially resulting in a headache. One day later, she began exhibiting bizarre behavior that gradually increased in severity over the following month. She began by sleeping with a recently deceased relative's ashes and emotional labiality and progressed to brushing her teeth with a comb, showering while dressed, undressing and then going outside, and not recognizing family members. Her husband brought her to the hospital for further evaluation.Her neurologic examination demonstrated that she was only oriented to self and had poor comprehension due to an inability to follow commands or respond appropriately to questions. Moreover, she demonstrated apraxia, aphasia, and selective mutism. Additional neurologic findings included patellar hyperreflexia, a palmomental reflex, and a wide-based gait. The remainder of the examination was limited by patient participation.

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Section: Discussionmentioning

confidence: 99%

Section: Mystery Case Responsesmentioning

confidence: 99%

Mystery Case: A 48-year-old woman with bizarre behavior, neurologic symptoms, and progressive decline

et al. 2018

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Differential Diagnosis of Suspected Multiple Sclerosis in Pediatric and Late-Onset Populations

Hua,

Solomon,

Tenembaum

et al. 2024

JAMA Neurol

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ImportanceWhile the typical onset of multiple sclerosis (MS) occurs in early adulthood, 2% to 10% of cases initially present prior to age 18 years, and approximately 5% after age 50 years. Guidance on approaches to differential diagnosis in suspected MS specific to these 2 age groups is needed.ObservationsThere are unique biological factors in children younger than 18 years and in adults older than age 50 years compared to typical adult-onset MS. These biological differences, particularly immunological and hormonal, may influence the clinical presentation of MS, resilience to neuronal injury, and differential diagnosis. While mimics of MS at the typical age at onset have been described, a comprehensive approach focused on the younger and older ends of the age spectrum has not been previously published.Conclusions and RelevanceAn international committee of MS experts in pediatric and adult MS was formed to provide consensus guidance on diagnostic approaches and key clinical and paraclinical red flags for non-MS diagnosis in children and older adults.

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