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Participant 193


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Male, age 18, with global developmental delay, autism, severe eczema, and multiple congenital anomalies

Date of Report

Feb 17, 2022

Description

The participant was born via C-section at 38 weeks old. Shortly after birth, he had jaundice and twisting of the neck (torticollis). As a toddler, his speech and other developmental milestones were delayed. He also had frequent nosebleeds as a child.

He developed chronic eczema at around 5 months old and has had frequent flare-ups throughout his life with no known triggers. He has severe allergies and frequent skin infections which are helped by IVIG infusions. At age 8, he was clinically diagnosed with Neurofibromatosis type 1 based on skin findings (café au lait spots, axillary freckling). Later, he developed a tumor under his eye (plexiform neurofibroma) that caused drooping of the eyelid (ptosis). Genetic testing for the NF1 gene was negative.

The patient has autism and lives with chronic fatigue, migraines, ADD, and anxiety. He sees a speech therapist, physical therapist, and occupational therapist for support. He has many allergies to both foods and environmental agents that he carries an epi-pen for.

Symptoms / Signs
  • Itchy and inflamed skin (atopic dermatitis)
  • Mild global developmental delay
  • Auditory processing disorder
  • Autism
  • Sleep disturbances (mild sleep apnea and restless leg syndrome)
  • Large head size (macrocephaly)
  • Skin sensitivity to light (cutaneous photosensitivity)
  • Flushing
  • Heart abnormality (aortic regurgitation)
  • Asthma
  • Incontinence
  • Low muscle tone (hypotonia)
  • Autonomic nervous system dysfunction
  • Imbalance of fluids in the body (diabetes insipidus)
  • Immune system abnormalities (low IgG)
Current Treatments
  • Albuterol, ProAir inhaler (asthma)
  • Alclometasone
  • Azelastine
  • Aprepitant
  • Bisacodyl
  • Bryhali
  • Budesonide
  • Cetirizine
  • Cholecalciferol
  • Citalopram
  • Clindamycin
  • Clobetasol
  • Desmopressin
  • DDAVP Nasal Spray
  • Elidel
  • Esomeprazole
  • Eucrisa
  • Fludrocortisone
  • Fluticasone proprionate
  • Hydrocortisone
  • IVIG infusions
  • Karbinal ER
  • Ketoconazole
  • Levetiracetam
  • Methylphenidate HCl
  • Montelukast
  • Mupirocin
  • Pimecrolimus
  • Polyethyline glycol
  • Pramipexole
  • Senna
  • Triamcinolone
  • Urea
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Legius syndrome
  • Mitochondrial disease
  • Neurofibromatosis type 1
Other Photographs
Genetic Variants of Interest
Contact

If this participant sounds like you or someone you know, please contact us!

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