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Participant 029

infantile spasms
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Male, age 4, with seizures (infantile spasms), abnormal MRI findings (delayed myelination, thinning of the corpus callosum), and developmental delay

Date of Report

Aug 08, 2017


The patient was born early at 37 weeks and was found to have bruised eyes and bleeding in the space between his scalp and skull (subgaleal hematoma). At two days old, he was sent to the NICU for low blood sugar (hypoglycemia), but was released after two days.

Over time, the patient’s parents noticed that he was not meeting his developmental milestones. At 9 months, he did not roll or sit and still had a head lag. At 12 months, he was found to be at a 4-month-old level in terms of his developmental progress.

At 17 months, the patient was diagnosed with seizures (infantile spasms). A brain MRI at this time was abnormal (delayed myelination, thinning of the corpus callosum).

Since starting treatment for his seizures, the patient has gained some milestones. He is currently able to reach out to grab objects, sit with support, and support himself on all fours. With intensive rehab and a gait trainer, he has been able to walk. However, he is nonverbal. He has no chewing or swallowing difficulties, but does need to eat every 2-3 hours or else he has low energy (lethargy). He also used to have staring and screaming spells.

More recently, the patient has been seizure free with a normal EEG and is not taking any medications.

Symptoms / Signs
  • Seizures (infantile spasms)
  • Underdeveloped areas of the brain (cerebellar vermis and hemisphere hypoplasia)
  • Delayed myelination
  • Abnormal MR spectroscopy findings (reduced brain N-acetyl aspartate level, elevated brain choline level)
  • Developmental delay
  • Low muscle tone (hypotonia)
  • Short stature
  • Vision impairment (cortical)
  • Abnormal tooth enamel
  • Acid reflux (gastroesophageal reflux disease)
  • Constipation
Current Treatments
Prior Treatments
  • Topiramate- seizures
  • Clobazam- seizures
  • ACTH- seizures
  • Lamotrigine- seizures
  • Omeprazole- GERD
Considered treatments
Previously Considered Diagnoses
  • Fragile X syndrome
  • GLUT1 deficiency syndrome
  • Metabolic condition
  • Microdeletion/duplication syndrome
Other Photographs
Genetic Variants of Interest

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