Misdiagnoses and delay of diagnoses in Moyamoya angiopathy-a large Caucasian case series

Journal of Neurology
Jonas GrafMarkus Kraemer

Abstract

The lacking awareness of healthcare providers bears the risk of delayed or false diagnoses in rare diseases. No systematic data about misdiagnoses of Moyamoya angiopathy (MMA) are available. To evaluate the rate and pattern of missed diagnoses in MMA. Retrospective analysis of a consecutive case series from a single German referral center. Rates of missed or delayed diagnoses in Caucasian MMA patients were calculated based on discharge letters from other hospitals and systematic chart review. Out of 192 Caucasian patients eventually diagnosed with MMA at our center, an initial misdiagnosis was identified in 119 patients (62%). The time between onset and diagnosis was 1 year in 24 patients, 2 years in 23 patients, 3 years in 10 patients, and > 3 years in 49 patients (mean 5.28, median 3, standard deviation 5.11, and range 4-26 years). The most common misdiagnoses were cerebral vasculitis (31%), etiologically ill-defined stroke diagnoses (30.2%), and MS (3.6%). This is the first systematic report which shows that patients with MMA are at high risk to be falsely diagnosed and treated. Depiction of typical vascular abnormalities in angiopathy is essential. Normal CSF cell counts, negative oligoclonal bands, and lack of infratentori...Continue Reading

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Citations

Feb 29, 2020·Genes·K M Tahsin Hassan Rahit, Maja Tarailo-Graovac
Feb 29, 2020·Microcirculation : the Official Journal of the Microcirculatory Society, Inc·Oliver SanderMarkus Kraemer
Jun 12, 2020·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·F MitriM Kraemer
Jun 6, 2019·Journal of Neurology·Markus KraemerMichael Marquardt
Jun 19, 2020·Journal of Neurosurgical Sciences·Souvik DubeyMarkus Kraemer
Nov 13, 2020·Frontiers in Neurology·Xiaoli SiJiali Pu
Jan 25, 2021·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·Fouad MitriMarkus Kraemer
Apr 10, 2021·Journal of the Neurological Sciences·Markus Kraemer, Peter Berlit
Jul 10, 2021·Journal of Neurology·Sara Pilgram-PastorMarkus Kraemer
Aug 28, 2021·Journal of Clinical Medicine·Isabella CanaveroAnna Bersano

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