Misdiagnosis of Metachromatic leukodystrophy (MLD) as chronic inflammatory demyelinating polyradiculoneuropathy (CDIP): A case report

Introduction: Chronic inflammatory demyelinating polyradiculoneuropa- thy (CIDP) is an immune mediated treatable disorder of the peripheral nerves, with predominant motor involvement and an insidious onset over months, or recurrent episodes. It can be in differential diagnosis with Metachromatic leukodystrophy (MLD) or otherleukodystrophies. Method: This is a case report. I obtained data in our hospitalized patient in Mashhad, Iran. Results: We present a ۶-year-old boy referred by regression of cognition and speech since ۹ months ago after focal tonic colonic seizure. He had strabismus in age of ۴ years of old and mild regression. He had no history of underlying disorder before and in perinatology history. His brain MRI and electroencephalogram (EEG) was normal in ۹ months ago. He was diagnosed as CDIP according to EMG-NCV and underwent IVIG therapy. In presentation time, his strabismus was persisted and his brain MRI showed leukodystrophy. His MLD was confirmed by whole exome sequencing (WES) and ARSA AR gene was positive for him (OMIOM Number: ۶۶۷۵۷۴). Conclusions: If any patient referred by cognition disorder and we suspect to CDIP, weshould consider leukodystrophies and not rely on normal brain MRI and follow the patient. If we suspect to leukodystrophies, we can check ARSA gene in WES.

کلیدواژه ها:

Chronic Inflammatory Demyelinating Polyradiculoneuropathy ، Metachromatic Leukodystrophy ، Whole Exome Sequencing.