Gray Platelet Syndrome in a Neonate With VACTERL Association: A Novel Homozygous Pathogenic Variant c.5257C>T in the NBEAL2 Gene.

Gray platelet syndrome is a rare hereditary autosomal recessive condition distinguished by a mild to moderate propensity toward bleeding, moderate reduction in platelet count, and a significant decrease or complete absence of platelet alpha granules. VACTERL association is a condition of specific birth defects affecting multiple organ systems, with an unknown etiology. The acronym stands for vertebral anomalies (V), anal anomalies (A), cardiac anomalies (C), tracheoesophageal fistula (TE), renal anomalies or radial bone anomalies (R), and limb defects (L). To diagnose the VACTERL association, at least three of the aforementioned abnormalities should be present. This case report concerns a neonate born with a left absent thumb, a hypoplastic right thumb, an imperforate anus, and an atrial septal defect. During postoperative investigations, after addressing an anorectal malformation, the patient was found to have moderate thrombocytopenia and large gray platelets upon examination of a peripheral blood smear. A genetic analysis validated the pathogenic homozygous mutation c.5257C>T in the NBEAL2 gene, which corresponds to gray platelet syndrome.