May 08, 2025

The participant was born full term and weighed 4lb 0oz. Before birth, she was diagnosed with growth delay (intrauterine growth restriction) and a single umbilical artery. During pregnancy, her mother had severe nausea and vomiting (hyperemesis gravidarum), which led to her losing 75 pounds during the first two trimesters. When the participant was born, she was in the NICU for 4 weeks for poor feeding. After being discharged from the NICU, she continued to have feeding difficulties and recurring diarrhea.

At 2 months of age, she was admitted to the hospital for failure to thrive. This was thought to be due to a suspected milk protein allergy. As a result, her formula was changed multiple times. The diarrhea stopped, but she began to vomit. Her formula was then changed about 10 more times.

At 3 months of age, she was admitted to the hospital for vomiting and failure to thrive. This led to more formula changes. At 5 months of age, she was admitted to the hospital for failure to thrive due to vomiting. She was fed a hypoallergenic formula (Necoate) through a nasogastric tube. However, she continued to vomit 5 times a day, but she did gain some weight.

At 12 months of age, she was admitted to the hospital for respiratory problems. She had rhinovirus, which required her to receive supplemental oxygen. She was admitted 9-10 times afterwards for a variety of reasons, including respiratory problems.

At 18 months of age, she was weaned off the nasogastric tube. At this time, she was diagnosed with severe low blood sugar (hypoglycemia). She was gray, lethargic, and had a blood sugar of 13. She was thought to have a glycogen storage disorder. However, testing for glycogen storage disease was negative (normal acylcarnitine profile). Her urine tests showed some metabolic abnormalities (severe ketosis with secondary elevations of dicarboxylic acids).

Shortly after, the participant was evaluated by Endocrinology. The underlying cause of her hypoglycemia remains unknown. She had gastrostomy tube feedings overnight and feedings by mouth during the day. This routine of feedings was continued until she was 26 months of age.

At 23 months of age, she became very ill with respiratory problems due to rhinovirus. She was treated with supplemental oxygen for two weeks. She was followed by Pulmonary, but they have not determined the cause of her recurring respiratory problems. She was recently found to have short ends of her chromosomes (short telomeres) but was not diagnosed with a related respiratory disease (ciliary respiratory disease).

At 26 months of age, she was lethargic with normal blood sugar. However, she had low levels of cells in her blood (low hemoglobin, low platelet counts). A liver function test showed increased liver enzymes, which increased over time. She also had excess abdominal fluid (ascites) and a swollen (distended) abdomen. She was thought to have low hormone levels (partial adrenal insufficiency). She was treated with hydrocortisone, and her vomiting stopped.

At 27 months of age, she was vomiting blood (hematemesis) and was diagnosed with elevated blood pressure in her liver (portal hypertension with oesophageal varices). Imaging showed she had multiple small liver tumors (adenomas).

At 30 months of age, she had a liver transplant. She then had many polyps (adenomatous nodules) in the liver. She was treated with tacrolimus, but this caused her to be in a coma for 3 weeks. During this time, she received gastrojejunostomy feedings because her stomach was taking too long to empty (delayed gastric emptying) due to an unknown cause. Her medical team was concerned about mitochondrial disease, but diagnostic tests were negative.

Recently, the participant was diagnosed with adrenal insufficiency after attempting to reduce steroid treatment. She went back on a maintenance dose of hydrocortisone after failing a stimulation test. The cause of her adrenal insufficiency is unknown at this time. She was also diagnosed with reduced levels of gamma globulins (hypogammaglobulinemia), which may be related to a recent treatment of rituximab. Her B cells are showing some recovery.

Additionally, the participant was found to have shortened ends of her chromosomes (shortened telomeres). She was evaluated by a telomere specialist, but they felt that her symptoms do not match a shortened telomere disorder.

• Recurrent respiratory infections
• Liver failure (hepatic failure)
• Low blood sugar and high ketones (ketotic hypoglycemia)
• Elevated blood pressure in the portal vein (portal hypertension)
• Failure to thrive
• Growth delay during pregnancy (intrauterine growth restriction)
• Global developmental delay
• Brain abnormalities (abnormal cerebral ventricle morphology and ventriculomegaly)
• Protruding forehead (frontal bossing)
• Eye fold (epicanthus)
• Almond-shaped eyes (almond-shaped palpebral fissure)
• Close-set eyes (hypotelorism)
• Underdeveloped ears (microtia)
• Abnormal facial skeletal imaging
• Weak cartilage in the walls of the larynx (laryngomalacia)
• Gastroesophageal reflux
• Tube feeding
• Asthma
• Elevated liver enzymes (elevated hepatic transaminase)
• Elevated liver iron concentration (elevated hepatic iron concentration)
• Permanent scaring of the liver (cirrhosis)
• Kidney cyst (renal cyst)
• Chronic constipation
• Elevated potassium levels (hyperkalemia)
• Low blood platelet levels (thrombocytopenia)
• Anemia

• Acyclovir
• Albuterol inhaler
• Bactrim
• Cyproheptadine
• Fludrocorisone
• Fluticasone
• Hydrocortisone
• Motegrity
• Sirolimus
• Zofran

• Corn starch
• Cyclosporin
• Cyproheptadine
• Erythromycin ethylsuccinate
• Esomeprazole
• Famotidine
• Flovent
• Hydrocortisone
• Tacrolimus