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Participant 087


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Male, age 8 with difficulty growing (failure to thrive) and GI issues (gastrointestinal dysmotility)

Date of Report

Sep 25, 2018

Description

Born at 37 weeks, the participant was initially healthy with the exception of jaundice and respiratory distress at birth. However, at 3 years old, he stopped meeting his growth milestones despite eating well. At that point, he was diagnosed with stomach muscle weakness (gastroparesis) and had a GJ tube placed. He relies on GJ feeding now, with occasional small portions of food 2-3 times per week. He was also recently diagnosed with growth hormone deficiency and additional GI issues (gastrointestinal dysmotility, chronic constipation, nausea).

His older brother is similarly affected with digestive and growth issues. Shortly after birth, he was noticed to have constipation with bouts of diarrhea. He was treated initially with rectal disimpaction. He was started on Miralax at age 5, but this did not help his symptoms.

At age 4, he was also diagnosed with dilated ureters and bladder, and posterior urethral valves. He underwent a urethral catheter placement and cystoscopic valve ablation. He went on to develop bladder dysfunction (neurogenic bladder) and chronic kidney disease from excess fluid in his kidneys (hydronephrosis) and dilated ureters.

Besides these issues, he was relatively healthy until age 9 when he was diagnosed with gastroparesis after he suddenly stopped eating. Before that he had been a healthy eater. He ended up being hospitalized after losing 12 pounds. Like his brother, he currently relies on GJ feeding.

Symptoms / Signs

Shared symptoms:

  • Difficulty growing (failure to thrive)
  • GI issues (gastroparesis, gastrointestinal dysmotility)
  • Nausea
  • Chronic constipation
  • Attention deficit hyperactivity disorder
  • Anxiety
  • Insomnia
  • Fatigue
  • Pain
  • Numerous moles (nevi)
  • Abnormal facial shape (prominent forehead (frontal bossing), downslanted eyes (palpebral fissures), deeply set eye)
  • Ears inclined forward (anteverted ears)
  • Decayed (carious) teeth
  • Cupped ribs
  • Wide bladder (dilatation of the bladder)

Younger brother only:

  • Growth delay
  • Growth hormone deficiency
  • Decreased body weight
  • Short stature
  • Malnutrition
  • Learning disability
  • Headache
  • Fever
  • Eczema
  • Poor wound healing
  • High blood sugar (hyperglycemia)
  • Nosebleeds (epistaxis)
  • No development (agenesis) of permanent teeth
  • Underdeveloped (hypoplasia of) dental enamel
  • Abnormality of the jaw with jawbone (mandibular) loss
  • High pitched voice
  • Difficulty breathing (dyspnea)
  • Asthma
  • Chest and abdominal pain
  • Rapid heart rate (tachycardia)
  • Curved pinky finger (clinodactyly of the 5th finger)
  • Long distance between upper lip and nose (long philtrum)
  • Thin upper lip (thin vermilion)

Older brother only:

  • Bladder dysfunction (neurogenic bladder)
  • Bladder diverticulum
  • Excess fluid in kidney (hydronephrosis)
  • Dilation of the bladder
  • Congenital posterior urethral valve
  • Chronic kidney disease
  • Diarrhea
  • Poor appetite
Current Treatments
  • Dronabinol, hyoscine – nausea
  • Famotidine- acid reflux
  • GJ tube feeding- difficulty growing
  • Hyoscyamine, Metoclopramide- digestive issues
  • Miralax, sennoside- constipation
Prior Treatments
  • Total parenteral nutrition feedingdifficulty growing
Considered treatments
Previously Considered Diagnoses
  • ACTG2 associated condition
  • FLNA associated condition
  • Fragile X syndrome
  • Metabolic condition
  • Microdeletion/duplication disorder
  • Mitochondrial disorder (including MELAS)
  • RAD21 associated condition
Other Photographs
Genetic Variants of Interest
Contact

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