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COBALAMIN C DEFICIENCY WITH INFANTILE SPASM AND CUTANEOUS FINDINGS: A UNIQUE CASE
Genetic Counseling (Geneva, Switzerland)
|September 12, 2018
Summary
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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