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Participant 093


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Female, age 10 with a tall and slender build (marfanoid habitus), seizures, IgA deficiency, and GI issues (gastrointestinal dysmotility)

Date of Report

Nov 05, 2018

Description

When the participant was very young, she had trouble feeding and would vomit frequently. She was diagnosed with gastrointestinal dysmotility and also found to have low tone (hypotonia) and some motor delays.

At the age of 2, the participant began to have seizures. During these seizures, she would stare and “be in a fog”. A brain MRI showed fluid-filled cysts (choroid plexus cyst).

Some of the participant’s other features include intellectual disability, abnormal antibody level (IgA deficiency), tall stature, and long, slender fingers (arachnodactyly).

The participant was found to have a change in the FBN1 gene that was inherited from her mother. Her mother does not have similar symptoms. The participant has some features that overlap with a connective tissue disorder, but it is also possible that she has two different diagnoses that are contributing to her symptoms.

Symptoms / Signs
  • Disproportionate tall stature
  • Slender build
  • Stretch marks (striae distensae)
  • Decreased bone density (osteopenia)
  • Abnormal antibody level (IgA deficiency)
  • Seizures
  • Fluid-filled cysts in the brain (choroid plexus cyst)
  • Intellectual disability
  • Brain disease (static encephalopathy)
  • Impaired ability to do rapid, alternating movements (dysdiadochokinesis)
  • Difficulty sleeping (insomnia)
  • Early puberty (precocious puberty)
  • Crossed eyes (strabismus)
  • Long and slender fingers (arachnodactyly)
  • Reduced tissue mass around the thumb (small thenar eminence)
  • Reduced tissue mass around the outer palm (small hypothenar eminence)
  • GI issues (gastrointestinal dysmotility)
  • Curved spine (scoliosis)
  • Flat feet (pes planus)
  • Bent toe (hammertoe)
Current Treatments
  • Bactrim prophylaxis – IgA deficiency
  • Gabapentin – seizures
  • Histrelin acetate (Supprelin) implant – early puberty
  • Trazadone – insomnia
Prior Treatments
  • Carbamazepine and Lamotrigine – seizures
  • Erythromycin – difficulty feeding and vomiting
Considered treatments
Previously Considered Diagnoses
  • Angelman syndrome
  • Marfan syndrome
  • Metabolic condition, including homocystinuria
  • Microdeletion/duplication syndrome
  • Mitochondrial disorder
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
Autosomal dominant (maternally inherited)
Chr15: 48474558
NM_000138.4
c.4057G>A
p.G1353R
Contact

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