SMPD1 and Failure to thrive: In addition, further disease evaluation and diagnostic confirmation can be achieved by performing molecular genetic analysis to detect mutations in the SMPD1 gene, thus adding diagnostic precision [5].In this case of our seven-month-old male patient presenting with fever and failure to thrive, detailed physical examination revealed numerous concerning findings, including an emaciated body habitus, palpable hepatosplenomegaly, defected ocular movements, hypotonicity, and hyporeflexia.