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Participant 140


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Male, age 12 with intellectual disability, seizures, brain abnormalities (ventriculomegaly, malrotation of bilateral hippocampi), and bulging, weakened wall of the aortic root (aortic root aneurysm)

Date of Report

Jul 29, 2019

Description

The participant was born early at 35 weeks and had feeding difficulties and breathing issues after birth. At 5 months, he was hospitalized for poor feeding and failure to thrive. At this time, he was also diagnosed with developmental delay. Two months later, he underwent G-tube placement to help with his feeding.

At 15 months, the participant underwent a hiatal hernia repair. Six months later, he was hospitalized with a high fever and abnormal liver function tests. He was found to have gallstones and underwent a cholecystectomy. At two years, he was found to have a heart abnormality (aortic root dilation) and a strong onion-like body odor. He was evaluated by endocrinology, but the cause of the body odor was not identified.

The participant has been hospitalized several times for feeding difficulties and infections. He also had two episodes where he stopped breathing. He has seizures as well that involve arm and leg stiffening. These occur daily, but only at home while sitting.

The participant has been diagnosed with attention deficit hyperactivity disorder (ADHD) and currently receives home therapy and special services at school.

Symptoms / Signs
  • Global developmental delay
  • Intellectual disability
  • Failure to thrive
  • Seizures
  • Attention deficit hyperactivity disorder (ADHD)
  • Low muscle tone (generalized hypotonia)
  • Small head size (microcephaly)
  • Skull abnormality (brachycephaly)
  • Brain abnormalities (ventriculomegaly, malrotation of bilateral hippocampi)
  • Hair loss (alopecia)
  • Drooping eyelids (ptosis)
  • Vision issues (myopia, astigmatism, amblyopia)
  • Ear abnormalities (low-set ears, cupped ear, underfolded helix)
  • Nose abnormalities (depressed nasal tip, broad nasal tip)
  • Short distance between the nose and lip (short philtrum)
  • Widely spaced teeth
  • Sunken chest (pectus excavatum)
  • Bulging, weakened wall of the aortic root (aortic root aneurysm)
  • Weak cartilage in the walls of trachea (tracheomalacia)
  • Bent left pinky finger (camptodactyly)
  • Excess fluid in kidney (hydronephrosis)
  • Gallstones (cholelithiasis)
  • Hernia in the upper part of the stomach (hiatus hernia)
  • Toe abnormalities (hallux valgus, curved 3rd toe phalanx)
  • Body odor
  • Feeding difficulties
Current Treatments
  • Albuterol, fluticasone – asthma
  • Cyproheptadine – allergies
  • G-tube – feeding difficulties
  • Glasses – astigmatism, amblyopia
  • Losartan – aortic root aneurysm
  • Ondansetron – nausea
Prior Treatments
  • Lorazepam – seizures
Considered treatments
Previously Considered Diagnoses
  • 22q11.2 deletion syndrome
  • Alagille syndrome
  • Ehlers-Danlos syndrome
  • Fragile X syndrome
  • Marfan syndrome
  • Metabolic disorder
  • Microdeletion/duplication syndrome
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic change to see if it is causing the participant’s symptoms:

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Unknown
Chr2:27656601
NM_013392.2
c.272G>A
p.Gly91Asp
Contact

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