Olfactory Bulb Hyperplasia in Genetically Confirmed Infantile Alexander DiseaseCorrespondence Address :
Dr. Michael Todd Jurkiewicz,
3401 Civic Center Blvd, Philadelphia, Pennsylvania, United States America.
Alexander Disease (AxD) is a well-known leukodystrophy with characteristic findings on brain Magnetic Resonance Imaging (MRI) including bilaterally symmetric, frontal confluent white matter signal abnormality with relative sparing of the parietal and occipital lobes, abnormal signal in the cerebellum and brainstem, as well as swelling of the deep grey nuclei. Aside from tumour-like “masses” thought to reflect collections of Glial Fibrillary Acid Protein (GFAP), there are no additional reported associations within the central nervous system in this disease. However, in our experience authors have noted that the olfactory bulbs are more prominent in patients with AxD than in age-matched controls. Here, a 12-year-old boy with genetically confirmed AxD, with classic brain parenchymal changes and large olfactory bulbs is reported. Although the clinical implications of this finding are currently unclear, identification and reporting of this potentially associated finding may have a role in the management of patients with AxD and could be valuable for treatment of unrelated medical issues.
Brain, Leukodystrophy, Paediatrics
Michael Todd Jurkiewicz, Pavel Rodriguez, Amy Tara Waldman, Avrum Nathaniel Pollock. OLFACTORY BULB HYPERPLASIA IN GENETICALLY CONFIRMED INFANTILE ALEXANDER DISEASE. Journal of Clinical and Diagnostic Research [serial online] 2019 March [cited: 2019 Feb 18 ]; 13:TD01-TD02. Available from
Date of Submission: Jun 14, 2017
Date of Peer Review: Jul 26, 2018
Date of Acceptance: Aug 24, 2018
Date of Publishing: Mar 01, 2019
FINANCIAL OR OTHER COMPETING INTERESTS: None.
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