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Participant 134


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Female, age 4 with seizures and global developmental delay

Date of Report

Jul 08, 2019

Description

The participant’s parents first noticed that the participant was not meeting her developmental milestones at 9 months. At 11 months, she started having seizures (infantile spasms). An MRI at 11 months was normal; however, she had an abnormal EEG (hypsarrhythmia) that was consistent with epileptic encephalopathy. Despite medications, her seizures have continued and are poorly controlled.

The participant first smiled at 11 months old and rolled over at 12 months. However, currently, she is not able to speak or walk. She was not able to tolerate a ketogenic diet and currently feeds through her G tube.

Symptoms / Signs
  • Severe global developmental delay
  • Inability to walk
  • Absent speech
  • Seizures (infantile spasms)
  • Abnormal EEG (hypsarrhythmia)
  • Short stature
  • Small head size (microcephaly)
  • Hearing loss (bilateral sensorineural hearing impairment)
  • Difficulty swallowing (oral-pharyngeal dysphagia)
  • Difficulty breathing while sleeping (obstructive sleep apnea)
  • Nonproductive cough
  • Short foot
  • Small hand
  • Abnormal calcification in the kidneys (medullary nephrocalcinosis)
  • Chronic constipation
  • Slow blood clotting (prolonged partial thromboplastin time)
  • Feeding difficulties
Current Treatments
  • Albuterol, Pulmicort, Motelukast, Fluticasone – breathing difficulties
  • Epidiolex – seizures
  • G tube – feeding difficulties
Prior Treatments
  • ACTH (twice), Banzel (twice), Depakene, Diastat, Fycompa, gabapentin, hemp oil (Blue Planet, Golden Earth, Hailey’s Hope, Nano enhanced, Palmetto Harmony), ketogenic diet, modified ketogenic diet, ONFI, sabril, topiramate, zonisamide  – seizures
  • Leucovorin calcium
  • Prednisolone
Considered treatments
Previously Considered Diagnoses
  • Kleefstra syndrome
  • Metabolic condition
  • Microdeletion/duplication disorder
  • Single gene disorder
  • West syndrome
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
Chr16:9858480
NM_000833
c.2921A>G
p.N974S
Contact

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