Abstract
Investigators at Northwestern University Feinberg School of Medicine and Ann & Robert H. Lurie Children’s Hospital of Chicago review the diagnostic criteria for pediatric multiple sclerosis, the differential diagnosis, the 2010 McDonald criteria, and Callen criteria.
Highlights
The Mongolian spots result from entrapment of melanocytes in the dermis because of arrested transdermal migration from the neural crest into the epidermis
Hurler syndrome and GM1 gangliosidosis type 1 are diseases associated with generalized Mongolian spots
The association of Mongolian spots with the lysosomal disease GM1 gangliosidosis type 1 was not recorded in older neurology textbooks, but a PubMed search found 10 references in the last 30 years (Weissbluth M, et al Br J Dermatol 1981 Feb;104(2):195-200) (Ashrafi MR, et al Pediatr Neurol 2006 Feb;34(2):143-5)
Summary
The Mongolian spots result from entrapment of melanocytes in the dermis because of arrested transdermal migration from the neural crest into the epidermis. Hurler syndrome and GM1 gangliosidosis type 1 are diseases associated with generalized Mongolian spots. Infants with GM1 gangliosidosis type 1, known as Pseudo-Hurler’s disease, show facial abnormalities that include frontal bossing, depressed nasal bridge, macroglossia, large low-set ears, and marked hirsutism.
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