Congenital combined vitamin K-dependent clotting factors deficiency (VKCFD) is a very rare autosomal recessive bleeding disorder. Here we report a case of a girl with novel variant in the gamma-glutamyl carboxylase (GGCX) gene leading to VKCFD. A 3-month-old girl presented to our hospital with a history of bleeding from puncture site. Laboratory evaluation showed markedly prolonged partial thromboplastin time and activated partial thromboplastin time. Activities of vitamin K-dependent factors were all low. Genetic analysis revealed a homozygous currently unreported variant in the GGCX gene further supporting a diagnosis of VKCFD type 1. VKCFD due to GGCX mutation has an overall good prognosis

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DISCUSSIONAcute lymphoblastic leukemia can present with proptosis, secondary glaucoma, hetrochromia iris, hypopyon, hyphema, retinal detachment, microaneuresyms, isolated retinal hemorrhages, tortuous blood vessels, and swollen optic disc [1-5]. The differential diagnosis of the swollen optic disc includes benign intracranial hypertension (pseudotumor cerebri), papilledema due to mass lesion, malignant hypertension, optic neuropathy due to Graves disease, metastatic orbital lesion, optic neuritis, diabetes, meningioma, optic glioma, and infiltration of nerve heads with leukemia and lymphoma.