Acute Stroke In A Patient With Mucopolysaccharidosis Type 1 With Increased Carotis Intima Media Thickness

Olgaç, Asburçe; Tümer, Leyla; Damar, Çaðrý; Hasanoðlu, Alev; Ezgu, Fatih Süheyl

doi:10.14744/ejmo.2018.51523

Cited by 3 publications

(6 citation statements)

References 9 publications

(13 reference statements)

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“…For the first time, we describe a child with MPS I who presented with an acute ischemic stroke and underlying cerebral arteriopathy. Although strokes have been reported in patients with MPS I ( 12 , 13 , 18 – 20 ), stroke is not a widely-recognized clinical manifestation of MPS I and there are no reviews or guidelines for managing stroke in patients with this disease ( 2 , 12 , 13 ). This report, to our knowledge, is the first clinical description of the development of progressive cerebral arteriopathy treated via revascularization surgery in a patient with MPS I.…”

Section: Discussionmentioning

confidence: 99%

“…After treatment with a recombinant tissue plasminogen activator (rtPA), this patient demonstrated signs of clinical improvement with recanalization of the left internal carotid artery ( 12 ). Another child with MPS I presented with an MCA territory occlusion and was treated with 7 days of heparinization, though no neurological changes were observed ( 13 ). Along with our current report, these studies indicate that stroke occurs in MPS I; however, it is uncertain whether rtPA therapy and anticoagulants will mitigate the risk of future strokes in patients with this disease.…”

Section: Discussionmentioning

confidence: 99%

“…Cardiac manifestations include hypertension, arrhythmia, valvular disease, and coronary artery disease (2,7,22). Stroke is not a widely recognized manifestation of MPS I, and patients with MPS I are not routinely evaluated for stroke (2,12,13). However, a few cases of stroke have been reported in patients with this disease (Table 1) (12,13,(18)(19)(20).…”

Section: Stroke In Mps Imentioning

confidence: 99%

“…Stroke is not a widely recognized manifestation of MPS I ( 2 , 12 , 13 ). Accordingly, patients with MPS I are not routinely screened for stroke and there are no established guidelines for managing stroke in this population.…”

Section: Introductionmentioning

confidence: 99%

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Case Report: Cerebral Revascularization in a Child With Mucopolysaccharidosis Type I

et al. 2021

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Mucopolysaccharidosis (MPS) type I is a rare lysosomal storage disorder caused by an accumulation of glycosaminoglycans (GAGs) resulting in multisystem disease. Neurological morbidity includes hydrocephalus, spinal cord compression, and cognitive decline. While many neurological symptoms have been described, stroke is not a widely-recognized manifestation of MPS I. Accordingly, patients with MPS I are not routinely evaluated for stroke, and there are no guidelines for managing stroke in patients with this disease. We report the case of a child diagnosed with MPS I who presented with overt stroke and repeated neurological symptoms with imaging findings for severe ventriculomegaly, infarction, and bilateral terminal carotid artery stenosis. Direct intracranial pressure evaluation proved negative for hydrocephalus. The patient was subsequently treated with cerebral revascularization and at a 3-year follow-up, the patient reported no further neurological events or new ischemia on cerebral imaging. Cerebral arteriopathy in patients with MPS I may be associated with GAG accumulation within the cerebrovascular system and may predispose patients to recurrent strokes. However, further studies are required to elucidate the etiology of cerebrovascular arteriopathy in the setting of MPS I. Although the natural history of steno-occlusive arteriopathy in patients with MPS I remains unclear, our findings suggest that cerebral revascularization is a safe treatment option that may mitigate the risk of future strokes and should be strongly considered within the overall management guidelines for patients with MPS I.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Stroke In Mps Imentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Case Report: Cerebral Revascularization in a Child With Mucopolysaccharidosis Type I

et al. 2021

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“…4 Stroke can also occur in MPS I. 5,6 This is the first report of a stroke in a child with the severe pediatric phenotype of Hunter's syndrome who was receiving enzyme replacement therapy (ERT).…”

Section: Introductionmentioning

confidence: 99%

Acute Arterial Ischemic Stroke in a Treated Child with Hunter's Syndrome: A Case Report and Review of the Literature

Sharma

Cummock

Maertens

2021

Journal of Pediatric Neurology

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Enzyme replacement therapy (ERT) has limited therapeutic effects on neurologic, skeletal, and cardiovascular pathophysiology. We report an acute right-sided flaccid hemiparesis in an 11-year-old boy with the severe neuronopathic phenotype of Hunter's syndrome who was receiving weekly idursulfase ERT. Due to his psychomotor regression and epilepsy, his presentation to the hospital was delayed. Computed tomography scan of brain showed no acute changes or hemorrhage. Stroke code was not called as patient was already outside of the time window for tissue plasminogen activator (tPA) therapy. Brain magnetic resonance imaging (MRI) showed diffuse cortical and deep atrophy consistent with his baseline neurological status and restricted diffusion in the territory of the left-middle cerebral artery (MCA) consistent with recent infarction. T1-weighted MRI revealed low signal intensity of the left insular cortex, as well as volume loss, consistent with previous undiagnosed stroke in the same vascular territory. In addition, MR angiogram (MRA) demonstrated left terminal M1 segment MCA occlusion. Echocardiogram showed aortic root dilation and moderate aortic valve insufficiency. Patient was also noted to have bacteremia related to port infection. ERT is limited by blood–brain barrier and the underlying glycosaminoglycans (GAGs) extracellular tissue accumulation which produces a proinflammatory state. GAG and bacterial lipopolysaccharide (LPS) are known to activate toll-like receptor 4 (TLR-4). GAGs released in the extracellular space of intracranial vessels induce inflammation by activating the TLR-4 pathway which is exacerbated by bacterial LPS contributing to focal arteritis. Our case suggests the importance of GAGs in the activation of the TLR-4 pathway as a cause of stroke in Hunter's syndrome.

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Clinical and neuroimaging review of monogenic cerebral small vessel disease from the prenatal to adolescent developmental stage

Enokizono,

Kurokawa,

Yagishita

et al. 2023

Jpn J Radiol

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Cerebral small vessel disease (cSVD) refers to a group of pathological processes with various etiologies affecting the small vessels of the brain. Most cases are sporadic, with age-related and hypertension-related sSVD and cerebral amyloid angiopathy being the most prevalent forms. Monogenic cSVD accounts for up to 5% of causes of stroke. Several causative genes have been identified. Sporadic cSVD has been widely studied whereas monogenic cSVD is still poorly characterized and understood. The majority of cases of both the sporadic and monogenic types, including cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), typically have their onset in adulthood. Types of cSVD with infantile and childhood onset are rare, and their diagnosis is often challenging. The present review discusses the clinical and neuroimaging findings of monogenic cSVD from the prenatal to adolescent period of development. Early diagnosis is crucial to enabling timely interventions and family counseling.

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Acute Stroke In A Patient With Mucopolysaccharidosis Type 1 With Increased Carotis Intima Media Thickness

Cited by 3 publications

References 9 publications

Case Report: Cerebral Revascularization in a Child With Mucopolysaccharidosis Type I

Case Report: Cerebral Revascularization in a Child With Mucopolysaccharidosis Type I

Acute Arterial Ischemic Stroke in a Treated Child with Hunter's Syndrome: A Case Report and Review of the Literature

Clinical and neuroimaging review of monogenic cerebral small vessel disease from the prenatal to adolescent developmental stage

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