COBALAMIN C DEFICIENCY WITH INFANTILE SPASM AND CUTANEOUS FINDINGS: A UNIQUE CASE

Cobalamin C (CbIC) deficiency is a rare disorder of vitamin B12 metabolism which results from impaired conversion of both its active forms methylcobalamin and adenosylcobalamin. Early onset cblC typically presents in the first year of life with hypotonia, lethargy, seizures, microcephaly, hydrocepha...

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Published inGenetic counseling Vol. 27; no. 3; pp. 399 - 403
Main Authors Öztürk, Z, Arhan, E, Aydin, K, Hirfanoğlu, T, Tümer, L, Okur, I, Serdaroğlu, A, Akbaş, Y, Karaoğlu, B
Format Journal Article
LanguageEnglish
Published Switzerland Éditions Médecine et Hygiène 01.01.2016
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Summary:Cobalamin C (CbIC) deficiency is a rare disorder of vitamin B12 metabolism which results from impaired conversion of both its active forms methylcobalamin and adenosylcobalamin. Early onset cblC typically presents in the first year of life with hypotonia, lethargy, seizures, microcephaly, hydrocephalus, developmental delay and other multisystem involvement including hematologic, ocular, renal, hepatic and cardiac symptoms. We report a case of a female infant with cblC deficiency who presented with seizures, developmental delay and hypopigmented cutaneous lesions. To our knowledge, the patient is the first diagnosed with cblC deficiency who had skin hypopigmentation.
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ISSN:1015-8146