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

Frontiers in Pediatrics

Edward Smith¹  James Leach²  Lori Luchtman-Jones³  Kasiani Myers³  Katie Wusick³  Adrienne Hammill³  Thomas Burrow⁴  Anna Byars⁵  J. Michael Taylor⁵  Zach Plummer⁶  Nathan Grant⁶  Sudhakar Vadivelu⁷ 

[1] Department of Neurosurgery, Boston Children's Hospital, Boston, MA, United States;Department of Radiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States;Division of Hematology – Oncology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States;Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States;Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States;Division of Pediatric Neurosurgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States;Division of Pediatric Neurosurgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States;Department of Radiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States;

关键词: mucopolysaccharidosis I;    stroke;    cerebral arteriopathy;    ventriculomegaly;    pial synangiosis;    cerebral revascularization;   

DOI  :  10.3389/fped.2021.606905

来源: Frontiers

【 摘 要 】

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.

【 授权许可】

CC BY