Abstract
This clincal report presents the case of a six-month-old male infant
with suspected left testicular torsion and right cryptorchidism, who
exhibited prolonged activated partial thromboplastin time (aPTT) and
prothrombin time (PT), microcytic anemia, and elevated plasma levels of
aspartate aminotransferase (AST). Physical examination revealed pale
skin and small subcutaneous hematomas, but no significant signs of
cholestasis or other abnormalities. The family history included
unspecified coagulation disorders. After treating the anemia with iron
supplements, repeated coagulation tests confirmed deficiencies in
multiple coagulation factors, with normal or elevated FVIII levels.
Major genetic and autoimmune causes were initially ruled out, and other
potential conditions, such as vitamin K deficiency and liver disease,
were considered but not confirmed. At age six, the patient was
hospitalized again due to macrohematuria. Further testing showed
persistent coagulation abnormalities and elevated AST levels.
Whole-exome sequencing identified a de novo heterozygous variant in the
SLC37A4 gene, associated with glycosylation disorders and liver
dysfunction. Additionally, congenital malformation of the C1 vertebra
was discovered. Glycosylation analysis of transferrin revealed a marked
alteration, supporting the involvement of the SLC37A4 variant in the
patient’s condition. This case highlights the importance of considering
glycosylation disorders in patients presenting with coagulopathy, liver
dysfunction, and skeletal abnormalities. It also emphasizes the role of
genetic testing in diagnosing rare disorders and the potential
implications of glycosylation in the regulation of coagulation factor
activity.