Hypoimmunoglobulinemia and Protein C Deficiency in
a Girl with Jacobsen Syndrome: A Case Report
Suthasinee Sinawat MD*, Amnat Kitkhuandee MD**,
NarongAuvichayapat MD***, Paradee Auvichayapat MD****,
Yosanan Yospaiboon MD*, Supat Sinawat MD****
Affiliation :
* Department of Ophthalmology, Khon Kaen University, Khon Kaen, Thailand
** Devision of Neurosurgery, Department of Surgery, Khon Kaen University, Khon Kaen,Thailand
*** Devision of Pediatric Neurology, Department of Pediatrics, Khon Kaen University, Khon Kaen,Thailand
**** Department of Physiology, Khon Kaen University, Khon Kaen, Thailand
Jacobsen syndrome is a rare contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.
The typical clinical manifestations include physical growth retardation, mental retardation, facial dysmorphisms, congenital
heart disease, thrombocytopenia, or pancytopenia.
A Thai-Australian girl was born with multiple abnormalities. Typical features and her karyotype, 46, XX, del(11)
(q23-qter), confirmed Jacobson syndrome. She had many uncommon findings including upslanting palpebral fissures,
tortuousity of retinal vessels and hypogammaglobulinemia. In addition, this case also presented with protein C deficiency,
which has not been reported previously in Jacobsen syndrome. The patient was treated with phototherapy, intravenous
antibiotic injection, and platelet transfusion in neonatal period. Cranioplasty was performed for prevention of the increased
intracranial pressure at three months of age. Surgical correction for strabismus was in the treatment plan.
Keywords : Jacobsen syndrome, Deletion 11q, 11q deletion syndrome, Hypoimmunoglobulinemia, Immunodeficiency, Immune
deficiency
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