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

Z Öztürk, E Arhan, K Aydin

    Genetic Counseling (Geneva, Switzerland)
    |September 12, 2018
    PubMed

    Insights

    Cobalamin C deficiency, a rare vitamin B12 metabolism disorder, can cause severe developmental issues. This case highlights a unique presentation including skin hypopigmentation, previously unobserved in this condition.

    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • Cobalamin C (CbIC) deficiency is an inherited metabolic disorder affecting vitamin B12 conversion.
    • It typically manifests in infancy with neurological and multisystemic symptoms.

    Purpose of the Study:

    • To report a novel case presentation of Cobalamin C deficiency.
    • To describe the association of skin hypopigmentation with this disorder.

    Main Methods:

    • Case report of a female infant diagnosed with Cobalamin C deficiency.
    • Clinical and dermatological assessment.

    Main Results:

    • The patient presented with seizures, developmental delay, and previously undocumented hypopigmented cutaneous lesions.
    • This represents the first reported instance of skin hypopigmentation in Cobalamin C deficiency.

    Conclusions:

    • Cobalamin C deficiency can present with a wider range of symptoms than previously recognized.
    • Skin hypopigmentation may be a novel clinical manifestation of Cobalamin C deficiency, warranting further investigation.

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