Abstract
Trichothiodystrophy is a rare neuroectodermal disorder of autosomal recessive inheritance that is characterized by brittle hair, nail dysplasia, ichthyosis, mental retardation, and gonadal failure. We describe a female patient whose cranial MRI revealed almost total lack of myelination in the supratentorial white matter, which is similar to the previously described cases. In addition, there was progressive cerebellar and cerebral atrophy, which has not been well documented in association with trichothiodystrophy.
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Acknowledgements
We thank Dr. Laura Stewart, pediatric endocrinologist, and Dr. Richard Beauchamp, pediatric orthopedic surgeon, for allowing us to describe this patient in their care.
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Yoon, HK., Sargent, M.A., Prendiville, J.S. et al. Cerebellar and cerebral atrophy in trichothiodystrophy. Pediatr Radiol 35, 1019–1023 (2005). https://doi.org/10.1007/s00247-005-1495-6
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DOI: https://doi.org/10.1007/s00247-005-1495-6