Here, we report a novel variant of the HSD17B10 gene (c.59 C > T) in a boy 2 months and 12 days old with a newly described aspect of the clinical phenotype of HSD10 MD, which manifested as mild developmental delay, metabolic disorders, hyperlactatemia, cholestatic hepatitis, elevated myocardial enzymes and 2M3HBA levels and early death. The gene discussed is FSIP1; the disease is Menkes disease.