Waardenburg syndrome: pathology
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Waardenburg syndrome: pathology. Intestine, Colon. Fully referenced neurology checklist.
Hypoganglionosis
- Intestine
- Colon
Absent melanocytes
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Myelin deficiency
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Other pathological features
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References
- Inoue K, Tanabe Y, Lupski JR. Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation. Ann Neurol 1999; 46:313-318.
- Rawlani SM, Ramtake R, Dhabarde A, Rawlani SS. Waardenburg syndrome: a rare case. Oman J Ophthalmol 2018; 11:158-160.
- Akutsu Y, Shirai K, Takei A, et al. A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel SOX10 mutation. Am J Med Genet A 2018; 176:1195-1199.
- Parthey K, Kornhuber M, Kunze C, et al. SOX10 mutation with peripheral amyelination and developmental disturbance of axons. Muscle Nerve 2012; 45:284-290.
