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Participant 160


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Male, age 7 with episodic fevers, food intolerance, projectile vomiting, and chronic constipation

Date of Report

Jun 09, 2020

Description

Shortly after birth, the participant started wheezing and was diagnosed with weak cartilage in the walls of the larynx and bronchial tubes (laryngomalacia and bronchomalacia). When he was a newborn, he had significant acid reflux (gastroesophageal reflux) and projectile vomiting. At 4 months, he was hospitalized for pneumonia. After he started eating solid foods, he started vomiting more often and experiencing constipation. A gastronomy tube was placed to help with his growth, but the participant did not tolerate it. He now receives all medicine and nutrition through a central venous catheter.

The participant also has episodic fevers. During these fever episodes, he has high levels of ferritin in his blood (increased serum ferritin) and low coagulation activity (reduced coagulation factor V activity, hypofibrinogenemia). He has also been diagnosed with gallbladder inflammation (cholecystitis), which was fixed with surgery. Some of his other symptoms include asthma, low bone density (osteopenia), urinary retention, enlarged spleen (splenomegaly), inflammation of the pancreas (pancreatitis), and speech articulation difficulties.

Symptoms / Signs
  • Episodic fever
  • Weakness, numbness, and pain in nerves (neuropathy)
  • Weak cartilage in walls of larynx and bronchial tubes (laryngomalacia and bronchomalacia)
  • Intermittent facial flushing
  • Asthma
  • Recurrent pneumonia
  • Speech articulation difficulties
  • Gastroesophageal reflux
  • Gallbladder inflammation (cholecystitis)
  • Enlarged spleen (splenomegaly)
  • Acute liver failure
  • Inflammation of the pancreas (pancreatitis)
  • Food intolerance
  • Projectile vomiting
  • Dependency on intravenous nutrition
  • Abdominal pain
  • Abdominal distention
  • Chronic constipation
  • Translocation of GI bacteria to blood
  • Intermittent GI bleeding
  • Urinary retention
  • Low bone density (osteopenia)
  • Many allergies/sensitivities
  • Elevated liver enzyme levels (elevated hepatic transaminase)
  • Low levels of cells in the blood (thrombocytopenia, lymphocytopenia, intermittent pancytopenia, anemia)
  • Reduced coagulation activity (reduced coagulation factor V activity, hypofibrinogenemia)
  • Increased level of ferritin in the blood (increased serum ferritin)
  • Low blood sugar (hypoglycemia)
Current Treatments
  • Tocilizumab
Prior Treatments
  • IV antibiotics and steroids – episodic fever
Considered treatments
Previously Considered Diagnoses
  • Bone marrow failure
  • Hemophagocytic lymphohistiocytosis (HLH)
  • Immune dysregulation
  • Microdeletion/duplication disorder
  • Mitochondrial disorder
Other Photographs
Genetic Variants of Interest

The following genetic change was identified in a UDN participant.

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
X-linked
ChrX: 65253394
NM_007268.2
c.334A>G
p.T112A
Contact

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