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Reversible Cerebral Vasoconstriction Syndrome: A Novel Mechanism for Neurological Complications in Schimke Immuno-osseous Dysplasia.
Pediatr Neurol. 2019 03; 92:67-70.PN

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.

Authors+Show Affiliations

Division of Pediatric Neurology, Department of Pediatrics and Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center Dallas, Dallas, Texas; Children's Health System of Texas, Dallas, Texas. Electronic address: Darrah.haffner@utsouthwestern.edu.Children's Health System of Texas, Dallas, Texas; Department of Radiology, University of Texas Southwestern Medical Center Dallas, Dallas, Texas.Division of Pediatric Neurology, Department of Pediatrics and Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center Dallas, Dallas, Texas; Children's Health System of Texas, Dallas, Texas.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

30635151

Citation

Haffner, Darrah N., et al. "Reversible Cerebral Vasoconstriction Syndrome: a Novel Mechanism for Neurological Complications in Schimke Immuno-osseous Dysplasia." Pediatric Neurology, vol. 92, 2019, pp. 67-70.
Haffner DN, Rollins NK, Dowling MM. Reversible Cerebral Vasoconstriction Syndrome: A Novel Mechanism for Neurological Complications in Schimke Immuno-osseous Dysplasia. Pediatr Neurol. 2019;92:67-70.
Haffner, D. N., Rollins, N. K., & Dowling, M. M. (2019). Reversible Cerebral Vasoconstriction Syndrome: A Novel Mechanism for Neurological Complications in Schimke Immuno-osseous Dysplasia. Pediatric Neurology, 92, 67-70. https://doi.org/10.1016/j.pediatrneurol.2018.10.022
Haffner DN, Rollins NK, Dowling MM. Reversible Cerebral Vasoconstriction Syndrome: a Novel Mechanism for Neurological Complications in Schimke Immuno-osseous Dysplasia. Pediatr Neurol. 2019;92:67-70. PubMed PMID: 30635151.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Reversible Cerebral Vasoconstriction Syndrome: A Novel Mechanism for Neurological Complications in Schimke Immuno-osseous Dysplasia. AU - Haffner,Darrah N, AU - Rollins,Nancy K, AU - Dowling,Michael M, Y1 - 2018/11/22/ PY - 2018/07/11/received PY - 2018/10/25/revised PY - 2018/10/30/accepted PY - 2019/1/13/pubmed PY - 2020/4/21/medline PY - 2019/1/13/entrez KW - Pediatrics KW - Reversible cerebral vasoconstriction syndrome KW - Schimke immuno-osseous dysplasia KW - Stroke KW - Transient ischemic attack KW - Treatment SP - 67 EP - 70 JF - Pediatric neurology JO - Pediatr Neurol VL - 92 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. SN - 1873-5150 UR - https://www.unboundmedicine.com/medline/citation/30635151/Reversible_Cerebral_Vasoconstriction_Syndrome:_A_Novel_Mechanism_for_Neurological_Complications_in_Schimke_Immuno-osseous_Dysplasia. L2 - https://linkinghub.elsevier.com/retrieve/pii/S0887-8994(18)30795-1 DB - PRIME DP - Unbound Medicine ER -