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Glycogen storage disease type I (GSDI) is a rare genetic metabolic disorder caused by a deficiency of the glucose-6-phosphatase (GSDIa) or glucose-6-phosphate translocase enzyme (GSDIb).1 Cerebrovascular disorders associated with GSDI have been reported in seven cases but have not been well studied. Here we investigated the prevalence, characteristics and pathophysiology of cerebrovascular disorders in patients with GSDI in a Chinese referral centre.
Between September 2014 and January 2019, among 175 patients with genetically confirmed GSDI (140 and 35 subjects with GSDIa and GSDIb respectively) at Peking Union Medical College Hospital, 34 with cranial magnetic resonance angiography (MRA) were included in this study. The indications for neuroimaging included headache, dizziness, intellectual impairment or stroke/transient ischaemic attack (TIA). Stroke was defined as an acute neurological deficit with neuroimaging showing brain infarction or haemorrhage, conforming to known arterial territory(ies). TIA was defined as a transient episode of neurological dysfunction caused by focal brain, spinal cord, or retinal ischaemia, without infarction on neuroimage or lasting less than 24 hours. None of the subjects had cranial irradiation, varicella-zoster virus infection, sickle cell disease, or neurofibromatosis type I, which were recognised causes of cerebral arteriopathy. The GSDI related data (eg, GSD subtype/genotype, metabolic control status, complications and treatment) and cerebrovascular related data (eg, neurological presentation and risk factors) were collected. Arteriopathy was diagnosed if MRA showed the imaging appearance of an in situ arterial abnormality not attributable to an exogenous thrombus or normal developmental …
Contributors BP and ZQ initiated the study. YH drafted the manuscript. YH and YY collected the data. SS and YD interpreted the genetic data. BH, JN and FF interpreted the imaging data. All authors revised the manuscript substantially and approved its final version.
Funding The study is supported by the Chinese Academy of Medical Sciences Innovation Fund for Medical Sciences (CIFMS, 2016-12M-1-002), the National Key Research and Development Program of China (2016YFC0901004) and the Peking Union Medical College Graduate Student Innovation Fund (2016-1002-01-15).
Competing interests None declared.
Patient consent for publication Not required.
Ethics approval Local ethics committee of Peking Union Medical College Hospital (JS-1282).
Provenance and peer review Not commissioned; externally peer reviewed.