background participants

Participant 082

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Female, age 8 with an undiagnosed progressive neuromuscular disorder with fatigue, global developmental delay and regression, severe gastrointestinal issues including poor gut motility with TPN dependency, failure to thrive, seizures, frequent infections, and autonomic dysfunction

Date of Report

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.

Symptoms / Signs
  • Global developmental delay
  • Intellectual disability
  • Developmental regression
  • Seizures (generalized tonic-clonic, generalized, absence, focal)
  • Abnormality of the brain (thick corpus callosum, abnormality of the subarachnoid space, abnormality of the cerebral ventricles, abnormality of the meninges – thin tentorium)
  • Gut motility disorder/ileostomy and gastrojejunostomy
  • Intestinal failure
  • Severe failure to thrive
  • Short stature
  • Delayed skeletal maturation
  • Delayed bone tissue formation (delayed ossification of carpal bones)
  • Abnormality of the metacarpal bones
  • Low muscle tone (hypotonia)
  • Hypermobility
  • Problems with coordination (ataxia)
  • Lack of coordinated movements (dysmetria)
  • Intractable migraines
  • Fatigue
  • Anxiety
  • Memory issues
  • Visual impairment
  • Lack of tears (alacrima)
  • Mild hearing loss (left ear)
  • Asthma
  • Areas of dark colored skin (hyperpigmentation of the skin)
  • Cafe-au-lait spot
  • Nevus
  • Growth arrest lines
  • Scoliosis (thoracic)
  • Elevated liver enzymes (hepatic transaminases)
  • Low blood sugar (hypoglycemia)
  • Carnitine deficiency
  • Decreased mitochondrial content and mild type II atrophy found on muscle biopsy
  • Generalized amino aciduria
  • Mild enlargement of the spleen (splenomegaly)
Current Treatments
  • Cyproheptadine, zofran – chronic nausea
  • Gabapentin – neuropathy, joint pain, visceral hyperalgesia
  • Klonopin – sleep disorder
  • Prilosec, famotidine – acid and bile reflux
  • Topomax – seizures
  • TPN – gastrointestinal issues
  • Ursodiol – elevated LFTs and bilirubin
  • Xifaxin, neomycin – bacterial overgrowth
Prior Treatments
  • Creon – pancreatic insufficiency
  • Erythromycin – frequent infections
  • Keppra, trileptal – seizures
  • Miralax, Open Ladd’s procedure, hernia repair, G tube, mechanical evacuation of the colon, appendicostomy, GJ tube, loop ileostomy, TPN, lansoprazole – gastrointestinal issues
Considered treatments
Previously Considered Diagnoses
  • Congenital disorder of glycosylation
  • Kawasaki disease
  • Metabolic condition
  • Mitochondrial condition
  • Hirschsprung’s disease
Other Photographs
Genetic Variants of Interest

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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