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

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Ozturk Z., Arhan E., Aydin K., Hirfanoglu T., Tumer L., Okur İ., ...Daha Fazla

GENETIC COUNSELING, cilt.27, sa.3, ss.399-403, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 27 Sayı: 3
  • Basım Tarihi: 2016
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.399-403
  • Gazi Üniversitesi Adresli: Evet

Özet

Cobalamin C deficiency with infantile spasm and cutaneous findings; a unique case: Cobalamin C (CblC) 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.