Relapsing Acute Axonal Neuropathy in Hereditary Fructose Intolerance

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• 作者：Anna Maitre ; MBBS ; Anna Maw ; MBBS ; Uma Ramaswami ; MBBS ; MD ; Sarah L. Morley ; MBBS ; PhD ; ^{sarah.morley@addenbrookes.nhs.uk" class="auth_mail" title="E-mail the corresponding author}
• 关键词：hereditary fructose intolerance ; motor neuropathy ; relapsing neuropathy
• 刊名：Pediatric Neurology
• 出版年：2016
• 出版时间：November 2016
• 年：2016
• 卷：64
• 期：Complete
• 页码：92-93
• 全文大小：151 K

文摘

A severe neurological abnormality has not been previously described in individuals with hereditary fructose intolerance, which typically presents early in childhood with severe metabolic acidosis and hypoglycemia.

Patient Description

We describe a boy who by age five years had required multiple admissions to the pediatric intensive care unit for an aggressive and atypical, relapsing and remitting neuropathy with features of acute motor axonal neuropathy (AMAN). It was later discovered that he also had undiagnosed hereditary fructose intolerance, and the severity and frequency of his neurological episodes diminished following an exclusion diet. His asymptomatic younger brother was diagnosed with hereditary fructose intolerance on screening. He is on a fructose-free diet and has not developed neurological symptoms.

Conclusions

Ongoing low-level exposure to fructose prior to diagnosis may have contributed to our patient’s neurological dysfunction. Early diagnosis and treatment may prevent neurological complications of hereditary fructose intolerance.