This is a three-and-a-half-year-old female patient with consanguineous parents from Andes, Antioquia, with a history of a deceased brother with the same entity.
A prenatal ultrasound reported changes in the configuration of the vertebrae.
She was born by vaginal delivery at 34 weeks of age, weighing 1.170 g and height 37 cm.
From birth to six months of life she presented episodes of recurrent pneumonia, in most cases with hospitalization, requiring permanent oxygen.
Currently, she has normal psychomotor development, without neurological deficit, but the physical examination shows hepatomegaly with studies showing portal hypertension of unclear cause.
Axial tomography of the spine was taken with 3D reconstruction in which multiple hemivertebrae were reported.
