Aug 06, 2018
Early on in life, the participant was very unhappy, often screaming and appearing uncomfortable. Around 2 months, she was noticed to have low muscle tone (hypotonia). A brain MRI was performed, which was abnormal (large cerebellum). She proceeded to have genetic testing (microarray), which identified a chromosomal deletion (983.10 kb deletion of chromosome 16q24.1-q24.2).
At 4 months, she started to have constipation, formula intolerance, and weight loss. It was discovered that her intestines were twisted (intestinal malrotation), which was causing a blockage. She was also diagnosed with a hernia (duodenal). She underwent an open Ladd’s procedure, hernia repairs, and an appendectomy at 7 months. A second surgery at 10 months revealed a collapsed small bowel and volvilis. Despite these surgeries, she continued to have frequent constipation, abdominal pain, bloating, weight loss, and feeding intolerance. A gastrostomy tube (G tube) was placed but her digestive issues (dysmotility) and abdominal swelling continued. A gastric emptying study performed at 18 months showed delayed emptying and reflux. Regular mechanical evacuation of the colon became necessary. At age 3, an appendicostomy, pyloroplasty, and duodenal obstruction repair was performed and a gastrostomy-jejunostomy tube (GJ tube) was placed. A muscle biopsy was also performed and revealed defects in mitochondrial activity (complex I, II, IV deficiency). However, the quantity of muscle was not sufficient, and it was recommended that the biopsy be repeated. At age 4, the participant was diagnosed with pancreatic enzyme insufficiency, a condition that occurs when the pancreas does not provide the necessary amount of digestive enzymes. A loop ileostomy was placed but immediately revised to an end ileostomy due to significant complications. A few months later, she underwent another revision due to additional complications. At age 5, it was determined that she had intestinal failure. A central line was placed at this time and total parenteral nutrition (TPN) was initiated.
The participant also has a history of seizures. When she was 1, she had her first complex partial seizure, which were first treated with Keppra then trileptal. She then started to have drop attacks (30-40 episodes per day), which were treated with Topamax. At 3 years, she started to have absence seizures. She is currently being treated with Topamax and her seizures are well controlled.
The participant also has frequent infections and a dysfunction of the autonomic nervous system (dysautonomia). Developmentally, she has some delays and has an individualized education program (IEP). She is very friendly and has not developed stranger anxiety.
Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:
983.10 kb deletion of chromosome 16q24.1-q24.2
Homoplasmic rare variant m.5785T>C (tRNA Cys) identified on muscle mtDNA analysis
If this participant sounds like you or someone you know, please contact us!
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