S.L. has Rett syndrome, which is caused by mutations in the MECP2 gene on the X chromosome. (For further information on Rett syndrome, see the
International Rett Syndrome Association website, www.rettsyndrome.org, and the
Rett Syndrome Research Foundation website, www.rsrf.org.) Early development is
normal in children with Rett syndrome, but there is then loss of purposeful limb
use, and the development of distinctive hand movements, seizures, and mental retardation;
they can also develop scoliosis and other anatomical deformities. S.L.’s first
percutaneous endoscopic gastrostomy (PEG) was placed in April 2001, inserted
medially because of her physical deformities, and she made a good recovery.
A replacement balloon PEG was inserted in April 2005 to avoid the need for further
endoscopies. S.L. started having severe diarrhea. Her full blood count, renal,
liver, and thyroid function, clotting screen, and vitamin B12 and folate levels were all normal. Stool and blood cultures were negative. S.L.’s
feeds were changed but this did not help. Her PEG was replaced in May 2005 via
a guide wire. It was flushed and seen to be functioning. However, the diarrhoea
continued. Abdominal computed tomography and a tubogram were performed. The computed
tomographic scan suggested that the PEG tube was in the transverse colon (Figure
[1]) and this was confirmed by the tubogram - contrast was seen entering the
large bowel, with a fistula into the stomach (Figure [2]). S.L. was then fed via a nasogastric tube, and the diarrhea stopped. Her PEG
was reinserted in September 2005, when placement in the transverse colon was ruled
out by applying suction on the needle on withdrawal from the stomach. S.L. remained
stable after this procedure.
We believe the first PEG tube had gone through the transverse colon into the stomach,
and that the replacement tube had ended up in the transverse colon. The patient
survived by retrograde flow of the feed from the transverse colon, through the
fistula, into the stomach. This case shows that even if a PEG tube is inserted
endoscopically, there may be unexpected changes in the anatomy. Careful consideration
should be given to determining the position of the PEG tube, so assuring the safety
of surrounding organs.
Figure 1 Computed tomographic scan of S.L.’s abdomen, showing the percutaneous endoscopic
gastrostomy balloon in the colon.
Figure 2 Tubogram showing contrast mainly in the colon, with tracking to the stomach via
a fistula.
Acknowledgments
We would like to thank S.L. and her family. We are also grateful to consultant
radiologist, Dr. William Saywell and the Radiology Department of Yeovil District
Hospital.
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