Peren PERK, Merve ÇAKMAK, Arzu YÜKSEL, Gülşen ŞENER, İhsan KAFADAR
Comprehensive Medicine - 2026;18(2):113-120
Objective: Neurocutaneous diseases are genetically heterogeneous syndromes that affect the central and peripheral nervous systems, the skin, and other organs. The most common include Neurofibromatosis (NF) types 1 and 2, tuberous sclerosis complex (TSC), and Sturge-Weber Syndrome (SWS). This study aimed to compare serum cofactor (calcium [Ca], phosphorus [P], magnesium [Mg], etc.) and coenzyme (vitamin B12 [Vit B12], folate, vitamin D [Vit D]) levels in children with phacomatoses aged 18 years or less and healthy controls. Materials and Methods: Fifty patients with neurocutaneous disorders (26 girls, 24 boys) and 50 age-, gender-, and socioeconomically matched healthy controls were evaluated. Serum cofactor and coenzyme levels were measured and statistically compared between groups. Results: Ferritin (27.8+/-16.8 vs. 41+/-26.4 ng/mL) and Vit D levels (18.1+/-9.2 vs. 23.5+/-11.3 ng/mL) were significantly lower in patients compared with controls (p<0.05). No significant group differences were found in Ca, P , Mg, alkaline phosphatase [ALP], or thyroid function tests. Vit B12 concentrations were similar between the two groups (p>0.05). Within the disease subgroups, significant variations were observed in hemoglobin [Hb], hematocrit [Hct], folate, ferritin, and Vit D levels, with the most pronounced deficiencies occurring in the NF1 and TSC groups. Conclusion: In children with phacomatoses-particularly those with NF1 and TSC-levels of ferritin, folate, and Vit D are noticeably lower than in healthy peers. Other cofactors and coenzymes tend to be comparable between groups. Therefore, routine monitoring of these three markers is recommended for pediatric patients with neurocutaneous disorders.
