Mar 03, 2022

The participant’s complex medical history began shortly after birth. Doctors noted that he had different facial features such as an unusual head shape. He also seemed to tire easily and had poor weight gain.

At 1 month of age, the participant’s parents were concerned about reduced muscle tone (hypotonia). He crawled at 10-12 months and walked at 28 months.

At 3 months of age, he was seen in neurology and was noted to have brain abnormalities (thinning of the corpus callosum, prominent lateral ventricles, and decreased periventricular white matter).

At approximately 2 years of age, the participant began experiencing seizures and rapid eye movements (nystagmus). Since then, the participant has experienced multiple seizures each year. Some seizures have required intubation.

At 3 years of age, he was non-verbal but understood some words. He was formally diagnosed with autism spectrum disorder at that time. At age 6, he was able to say “all done.”

• Seizures
• Developmental delay
• Enlarged ears (macrotia)
• Developmental delay
• Intellectual disability
• Seizures
• Brain abnormalities (thinning of the corpus callosum, enlarged lateral ventricles, decreased periventricular white matter)
• Ridge on the forehead (metopic ridge)
• Rapid eye movements (nystagmus)
• Drooping of upper eyelids (bilateral ptosis)
• Enlarged ear (macrotia)
• High palate
• Small chin (micrognathia)
• Generalized low muscle tone (hypotonia)
• Café-au-lait spots
• Numbness in response to cold temperatures or stress (Reynaud’s disease)
• Beta thalassemia trait

• Diazepam
• Glycerin suppository
• Hyoscyamine
• Klonopin
• Lidocaine cream
• Topamax
• Trilleptal

• Carnitine supplements
• Intubation