- CASE FILE
Amy is a 24 year old with significantly developmentally delays due to seizures and is now losing weight due to excessive vomiting.
ABOUT THIS CASE FILE
Amy is a 24 year girl with significant development delay and seizures since birth but her underlying Medical Condition is undiagnosed. Only identified symptom is an abnormal EEG and MRIs have shown atrophy with time. No signs of structural abnormalities or damage to brain. Infantile Spasm as a small child and as an adult a tonic like seizure is common, occasional gran mal seizures. Gran Mal seizures were usually a few times a year but recently increased to 13 in one month. They have reduced in the last two months but still several in the month. She does not walk, talk or have purposeful use of her hands. She doesn't effectively use her vision and has been determined to be legally blind. Although she is in her wheelchair and doesn't use her hands, she has no contractures and actually has good movement of all her joints and fingers. Over the last year we have noticed that she has less drooling, but also started having occasional vomiting. She was about 105lbs last year and was at 99lbs in June. Since June she has increasingly refused to eat and when she did eat, vomiting has become more frequent. She has always been a good eater, and has good trunk strength. Her core strength allows her to ride horses and sit up well unsupported on the horse. Now she eats small meals and has a problem keeping the food down. She will vomit immediately or up to 1-3 hrs after eating. We have recently had Endoscope of stomach, MRI of Brain, Motility Study, UltraSound of Abdomen, X-Ray of Abdomen, CT Scan of Abdomen. We tried to do an Upper GI with Upper Bowel Follow through study and could only do the Upper Bowel Follow through part as she could not cooperate or stand to enable the Upper GI study. About 1 hr into the Upper Bowel Follow through part of the study, the contrast agent was still in her stomach with small leakage starting to flow into the small bowel. She threw up the contrast agent after 1hr and the study was stopped. The Motility study showed that she did have an initial delay in emptying which took 124 minutes to empty 50% of the content. Eventually she only had 6% of the content in her stomach after 4hrs, which is within the normal range. The CT Scan showed that there was significant stool in her bowels with a 7cm stool ball in her colon. We spent a week in the hospital clearing out the stool, but the vomiting still continues. She is now down to 80lbs from 100lbs in June, and is only 5ft 2in tall so she has a BMI well below normal.