1.
J Pediatr Hematol Oncol
; 41(4): e224-e226, 2019 May.
Article
in English
| MEDLINE
| ID: mdl-30531603
ABSTRACT
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.
Subject(s)
Blood Coagulation Disorders, Inherited/genetics , Carbon-Carbon Ligases/genetics , Female , Humans , Infant , Mutation, Missense
2.
Pediatr Blood Cancer
; 45(1): 72-3, 2005 Jul.
Article
in English
| MEDLINE
| ID: mdl-15765529
Subject(s)
Blindness/etiology , Papilledema/etiology , Precursor Cell Lymphoblastic Leukemia-Lymphoma/complications , Blindness/diagnostic imaging , Blindness/pathology , Child , Humans , Magnetic Resonance Imaging , Male , Papilledema/diagnostic imaging , Papilledema/pathology , Radionuclide Imaging , Recurrence
3.
J Pediatr Hematol Oncol
; 25(12): 987-8, 2003 Dec.
Article
in English
| MEDLINE
| ID: mdl-14663286
Subject(s)
Burkitt Lymphoma/pathology , Heart Neoplasms/pathology , Thyroid Neoplasms/pathology , Burkitt Lymphoma/diagnosis , Burkitt Lymphoma/therapy , Child, Preschool , Heart Neoplasms/diagnosis , Heart Neoplasms/therapy , Humans , Lymphoma, Non-Hodgkin/diagnosis , Lymphoma, Non-Hodgkin/pathology , Lymphoma, Non-Hodgkin/therapy , Male , Thyroid Neoplasms/diagnosis , Thyroid Neoplasms/therapy , Tomography, X-Ray Computed
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