CADASIL mimicking multiple sclerosis: The importance of clinical and MRI red flags

Joshi, Stuti; Yau, Wayne; Kermode, Allan G.

doi:10.1016/j.jocn.2016.09.025

Cited by 17 publications

(10 citation statements)

References 5 publications

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“…However, in CADASIL, in comparison to multiple sclerosis, temporo-polar MRI lesions are present in a high percentage, the optic nerve and spinal cord are generally not involved, and oligoclonal bands in the cerebrospinal fluid are absent. Corpus callosum hyperintensities are described both in CADASIL and in multiple sclerosis [ 124 , 125 ]. In relation to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), in CADASIL, extraneurological findings (early-onset spondylosis and early-onset alopecia) are absent, clinical onset is generally later, MA is a typical sign, and inheritance is autosomal dominant [ 126 ].…”

Section: Differential Diagnosismentioning

confidence: 99%

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects

Donato

Bianchi

Stefano

et al. 2017

BMC Med

237

175

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common and best known monogenic small vessel disease. Here, we review the clinical, neuroimaging, neuropathological, genetic, and therapeutic aspects based on the most relevant articles published between 1994 and 2016 and on the personal experience of the authors, all directly involved in CADASIL research and care. We conclude with some suggestions that may help in the clinical practice and management of these patients.

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Section: Differential Diagnosismentioning

confidence: 99%

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects

Donato

Bianchi

Stefano

et al. 2017

BMC Med

237

175

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“…However, the generalized pattern of this patient's allodynia suggests central origin, which is also supported by normal electromyography (EMG) and nerve conduction study (NCS). Allodynia is usually not a symptom of leukoencephalopathy, however, it is rarely reported in the patients with leukoencephalopathy, including ALSP [3031]. Therefore, central origin allodynia is suggested in this patient, but fibromyalgia or somatic allodynia cannot be ruled out.…”

Section: Discussionmentioning

confidence: 94%

An Autopsy Proven Case of CSF1R-mutant Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) with Premature Ovarian Failure

et al. 2019

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Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a progressive degenerative white matter disorder caused by mutations in the tyrosine kinase domain of the CSF1R gene. ALSP is often misdiagnosed as other diseases due to its rarity and various clinical presentations such as Parkinsonism, pyramidal signs, cognitive impairment and/or psychiatric symptoms. We describe an autopsy case of ALSP with a CSF1R mutation. A 61-year-old woman presented insidious-onset gait difficulty for 12 years since her age of 49, and premature ovarian failure since her age of 35. At initial hospital visit, brain magnetic resonance imaging revealed hydrocephalus. Initially, Parkinson's syndrome was diagnosed, and she was prescribed L-dopa/carbidopa because of spasticity and rigidity of extremities, which had worsened. Subsequently, severe neuropsychiatric symptoms and cognitive impairment developed and radiologically, features of leukoencephalopathy or leukodystrophy were detected. She showed a down-hill course and died, 12 years after initial diagnosis. At autopsy, the brain showed severe symmetric atrophy of bilateral white matter, paper-thin corpus callosum, thin internal capsule, and marked hydrocephalus. Microscopically, diffuse loss of white matter, relatively preserved subcortical U-fibers, and many eosinophilic bulbous neuroaxonal spheroids were noted, but there was no calcification. Pigmented glia with brown cytoplasmic pigmentation were readily found in the white matter, which were positive for Periodic acid-Schiff, p62, and CD163 stains, but almost negative for CD68. Whole-exome and Sanger sequencing revealed a CSF1R mutation (c.2539G>A, p.Glu847Lys) which was reported in prior one ALSP case. This example demonstrates that ALSP could be associated with premature ovarian failure.

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“…Initially, 40% of patients were diagnosed with MS, and 16% of patients were getting an immunomodulating agent. Thirty-eight percent of patients had a positive family history of MS. Joshi et al recorded two cases, one of which was a 23-year-old woman with scotoma and the other a 56-year-old man with the perineum and right arm paresthesia [13]. Both patients showed diffuse white matter lesions and diagnosed with MS, but subsequent NOTCH3 mutations testing confirmed both patients as having CADASIL.…”

Section: Discussionmentioning

confidence: 99%

Periventricular Hyperintensities Mimicking Multiple Sclerosis

Saleem¹,

Anwar²,

Abbasi³

et al. 2019

Cureus

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a small-to-medium-sized vessel disease that causes degeneration of vascular smooth muscles. The most frequently found mutation is NOTCH3 on chromosome 19, the presence of which confirms the diagnosis of CADASIL. The core features of CADASIL are migraine, ischemic events, cognitive decline, and psychiatric features. Its symptoms overlap with other diseases, most commonly with multiple sclerosis (MS). Both diseases can give fluidattenuated inversion recovery in periventricular regions and deep white matter. CADASIL is often misdiagnosed and treated as MS due to these similarities. We present a case of a 28-yearold woman who began treatment for MS and was later confirmed with a diagnosis of CADASIL with a NOTCH3 mutation.

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CADASIL mimicking multiple sclerosis: The importance of clinical and MRI red flags

Cited by 17 publications

References 5 publications

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects

An Autopsy Proven Case of CSF1R-mutant Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) with Premature Ovarian Failure

Periventricular Hyperintensities Mimicking Multiple Sclerosis

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