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Participant 175


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Female, age 5 with seizures (tonic seizures and spasms) that are resistant to treatment (refractory), global developmental delay, autism, and intermittent problems with coordination (gait ataxia)

Date of Report

Nov 10, 2020

Description

At 17 months old, the participant began to have seizures (infantile spasms). At their worst, she was having seizures >50 times daily. The participant was treated with many different combinations of seizure medications and underwent a trial of ketogenic diet. At 2 years old she was still having seizures multiple times a day (atonic, tonic-clonic, and infantile spasms). After a corpus callosotomy (brain surgery to separate the connection between the left and right sides of the brain) and additional medication changes, she experienced a period of 10 months with no seizures. At 4 years old, she began having seizures again (tonic seizures and spasms), but they were successfully controlled by medication for 7 months. More recently, she has again been having seizures (tonic seizures and spasms) but notably has gone 2 years without tonic-clonic or atonic seizures.

The participant has global developmental delay that more severely affects her language skills than her motor skills.  She walked independently at 18 months of age.  She was diagnosed with autism at 3.5 years of age.

The participant also experiences episodes of mild metabolic acidosis (increased acidity of the blood) and problems with coordination (ataxia).

Symptoms / Signs
  • Autism
  • Seizures (tonic-clonic, atonic, myoclonic, infantile spasms)
  • Brain disease (encephalopathy)
  • Delayed speech and language development
  • Delayed motor development
  • Vision impairment (cerebral visual impairment suspected)
  • Decreased muscle tone (generalized hypotonia)
  • Intermittent problems with coordination (gait ataxia)
  • Walks with legs spaced far apart (broad-based gait)
  • Mildly high white blood cell count (leukocytosis)
  • Intermittent mild metabolic acidosis
  • Mildly low cerebrospinal fluid folate level
  • Increased acidity of the blood (mild metabolic acidosis)
Current Treatments
  • Clobazam
  • Corpus callosotomy
  • Epidiolex
  • Leucovorin
  • Levetiracetam
  • Melatonin as needed
  • Rufinamide

 

Emergency seizure medications:

  • Diastat
  • Klonopin
Prior Treatments
  • ACTH
  • CBD oil
  • Ketogenic diet
  • Prednisolone
  • Vigabatrin
  • Vitamin B6
Considered treatments
Previously Considered Diagnoses
  • Epilepsy syndromes
  • Encephalopathy/developmental delay syndromes
  • Microdeletion/duplication disorders
  • Mitochondrial disorders
  • Metabolic disorders
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Maternally inherited
Chr12:105456759
NM_001034173.3
c.827del
p.Val276Glyfs*33
De novo germline
Chr9: 137565151
NM_138778.4
c.644G>A
p.G215D
Contact

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