Article
Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome.
Brain & development - 1 Jun 2020
Battini Roberta, Olivieri Giorgia, Milone Roberta, Mazio Federica, Scalise Roberta, Verdolotti Tommaso, Primiano Guido, Genovese Orazio, Mercuri Eugenio, Servidei Serenella
Abstract excerpt
BACKGROUND: Biotinidase deficiency (BTD) is an autosomal recessive inborn error of metabolism provoking progressive biotin depletion, which causes, in turn, multiple carboxylase deficiency. Its infantile onset is characterized by intractable seizures associated with lethargy, psychomotor regression, hypotonia, feeding and respiratory problems, and cutaneous abnormalities. CASE DESCRIPTION: We describe a...
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