Case History--Revised

My daughter was born in 2006 full-term (at home, like Shiney), with 9/9 APGAR scores. She began vomiting at day 2 or 3, and at day 4 was diagnosed with a mid-gut volvulus. She had an intestinal malrotation, which lead to the volvulus, which was in turn corrected surgically with a Ladd's procedure. She has heterotaxia; heart on left, stomach on right, symmetrical liver. She has an interrupted inferior vena cava with azygous continuation, but no other heart or venous abnormalities known. Symmetry in her lungs has not been investigated/reported.

Ultrasound showed no visible spleen, and her Pitt count was 45% (normal is <3%). She was diagnosed as asplenic at that time, and prescribed prophylactic antibiotics.

In October 2007 she presented with a high fever, and was hospitalized for a urinary tract infection, with mild kidney dilation. Ultrasound revealed the presence of splenules (!); her Pitt count was <3%, indicating some spleen function--and therefore her diagnosis was changed from asplenia to polysplenia. No diagnostics have been done on her immune function, so she is presumed hyposplenic, and continues antibiotic prophylaxis. A VCUG to diagnose any kidney reflux has been scheduled, but not yet done.

Her lack of profound cardiac abnormalities fits better with polysplenia syndrome than asplenia. The finding of polysplenia is a bit of a relief, and answers some questions her father and I had.

Our medical geneticist and our own reading inform us that heterotaxia is presumed to be a single-gene recessive trait. In some cases, especially with asplenia, it appears X-linked; that's probably not the case here. Because both parents have had exposures that may put them at risk for congenital defects in their children (father is a Gulf War veteran, mother uses mutagenic and tertragenic compounds in the course of her work), we would be grateful to know more about the cause of our daughter's syndrome.