Reversible Cerebral Vasoconstriction Syndrome: A Novel Mechanism for Neurological Complications in Schimke Immuno-osseous Dysplasia

Research output: Contribution to journalArticle

Abstract

Background: Schimke immuno-osseous dysplasia is a rare autosomal recessive disease resulting from biallelic SMARCAL1 mutations. It presents in early childhood and is characterized by short stature, nephropathy, and immunodeficiency. Approximately 50% of those affected have neurological complications including migraines, transient ischemic attacks, and strokes. Methods: We present a six-year-old boy with Schimke immuno-osseous dysplasia without evidence of atherosclerosis with recurrent episodes of severe headache, fluctuating hemiparesis, and aphasia. Results: Magnetic resonance imaging and angiography were normal during the initial episode; multiple areas of reversible restricted diffusion with decreased perfusion and arterial stenosis were seen with subsequent attacks. Conclusions: This constellation of symptoms and imaging findings is suggestive of reversible cerebral vasoconstriction syndrome, which we propose as a mechanism for the transient ischemic attacks and infarcts seen in some patients with Schimke immuno-osseous dysplasia, as opposed to accelerated atherosclerosis alone. This new insight may provide a basis for novel preventative therapy in this rare disorder.

Original languageEnglish (US)
JournalPediatric Neurology
DOIs
StateAccepted/In press - Jan 1 2019

Fingerprint

Vasoconstriction
Transient Ischemic Attack
Atherosclerosis
Magnetic Resonance Angiography
Aphasia
Paresis
Migraine Disorders
Headache
Pathologic Constriction
Perfusion
Stroke
Magnetic Resonance Imaging
Mutation
Schimke immunoosseous dysplasia
Therapeutics

Keywords

  • pediatrics
  • reversible cerebral vasoconstriction syndrome
  • Schimke immuno-osseous dysplasia
  • stroke
  • transient ischemic attack
  • treatment

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology

Cite this

@article{8519703ab2bc46e8a0f0812a87876170,
title = "Reversible Cerebral Vasoconstriction Syndrome: A Novel Mechanism for Neurological Complications in Schimke Immuno-osseous Dysplasia",
abstract = "Background: Schimke immuno-osseous dysplasia is a rare autosomal recessive disease resulting from biallelic SMARCAL1 mutations. It presents in early childhood and is characterized by short stature, nephropathy, and immunodeficiency. Approximately 50{\%} of those affected have neurological complications including migraines, transient ischemic attacks, and strokes. Methods: We present a six-year-old boy with Schimke immuno-osseous dysplasia without evidence of atherosclerosis with recurrent episodes of severe headache, fluctuating hemiparesis, and aphasia. Results: Magnetic resonance imaging and angiography were normal during the initial episode; multiple areas of reversible restricted diffusion with decreased perfusion and arterial stenosis were seen with subsequent attacks. Conclusions: This constellation of symptoms and imaging findings is suggestive of reversible cerebral vasoconstriction syndrome, which we propose as a mechanism for the transient ischemic attacks and infarcts seen in some patients with Schimke immuno-osseous dysplasia, as opposed to accelerated atherosclerosis alone. This new insight may provide a basis for novel preventative therapy in this rare disorder.",
keywords = "pediatrics, reversible cerebral vasoconstriction syndrome, Schimke immuno-osseous dysplasia, stroke, transient ischemic attack, treatment",
author = "Haffner, {Darrah N.} and Rollins, {Nancy K} and Dowling, {Michael M}",
year = "2019",
month = "1",
day = "1",
doi = "10.1016/j.pediatrneurol.2018.10.022",
language = "English (US)",
journal = "Pediatric Neurology",
issn = "0887-8994",
publisher = "Elsevier Inc.",

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TY - JOUR

T1 - Reversible Cerebral Vasoconstriction Syndrome

T2 - A Novel Mechanism for Neurological Complications in Schimke Immuno-osseous Dysplasia

AU - Haffner, Darrah N.

AU - Rollins, Nancy K

AU - Dowling, Michael M

PY - 2019/1/1

Y1 - 2019/1/1

N2 - Background: Schimke immuno-osseous dysplasia is a rare autosomal recessive disease resulting from biallelic SMARCAL1 mutations. It presents in early childhood and is characterized by short stature, nephropathy, and immunodeficiency. Approximately 50% of those affected have neurological complications including migraines, transient ischemic attacks, and strokes. Methods: We present a six-year-old boy with Schimke immuno-osseous dysplasia without evidence of atherosclerosis with recurrent episodes of severe headache, fluctuating hemiparesis, and aphasia. Results: Magnetic resonance imaging and angiography were normal during the initial episode; multiple areas of reversible restricted diffusion with decreased perfusion and arterial stenosis were seen with subsequent attacks. Conclusions: This constellation of symptoms and imaging findings is suggestive of reversible cerebral vasoconstriction syndrome, which we propose as a mechanism for the transient ischemic attacks and infarcts seen in some patients with Schimke immuno-osseous dysplasia, as opposed to accelerated atherosclerosis alone. This new insight may provide a basis for novel preventative therapy in this rare disorder.

AB - Background: Schimke immuno-osseous dysplasia is a rare autosomal recessive disease resulting from biallelic SMARCAL1 mutations. It presents in early childhood and is characterized by short stature, nephropathy, and immunodeficiency. Approximately 50% of those affected have neurological complications including migraines, transient ischemic attacks, and strokes. Methods: We present a six-year-old boy with Schimke immuno-osseous dysplasia without evidence of atherosclerosis with recurrent episodes of severe headache, fluctuating hemiparesis, and aphasia. Results: Magnetic resonance imaging and angiography were normal during the initial episode; multiple areas of reversible restricted diffusion with decreased perfusion and arterial stenosis were seen with subsequent attacks. Conclusions: This constellation of symptoms and imaging findings is suggestive of reversible cerebral vasoconstriction syndrome, which we propose as a mechanism for the transient ischemic attacks and infarcts seen in some patients with Schimke immuno-osseous dysplasia, as opposed to accelerated atherosclerosis alone. This new insight may provide a basis for novel preventative therapy in this rare disorder.

KW - pediatrics

KW - reversible cerebral vasoconstriction syndrome

KW - Schimke immuno-osseous dysplasia

KW - stroke

KW - transient ischemic attack

KW - treatment

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