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Participant 068


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Female, age 8 with seizures, weekly episodes of confusion and hallucination, problems with coordination (ataxia), tremor, ulcerative colitis, pancreas inflammation (pancreatitis), and developmental delay

Date of Report

May 22, 2018

Description

The participant’s parents began to have concerns about her development when she stopped babbling at 3 months. She started to have different eye movements around 6 months and, when she began walking at 18 months, she walked differently (ataxic gait). She was treated with rituximab, IVIG, and ACTH, which helped her ataxia, but her different eye movements, tremor, and unsteadiness remained. She also struggled with learning how to talk, which continues to be a difficulty for her.

The participant had her first seizure (generalized tonic clonic) at 14 months, which improved after being put on valproic acid. A year later, she started having diarrhea and weight loss and was diagnosed with ulcerative colitis.  Soon after, she had daily abdominal pain with episodes of pancreas inflammation (pancreatitis). At the age of 5, she had an episode where she was very confused and unable to recognize her immediate family members. During this episode, she also stumbled and was uncoordinated. These episodes have continued and she currently has them about every week.

Symptoms / Signs
  • Problems with coordination (ataxia)
  • Tremor
  • Clumsiness
  • Global developmental delay
  • Seizures (epilepsy)
  • Neurological disorder (opsoclonus myoclonus ataxia like syndrome)
  • Episodic confusion and hallucinations
  • Sleep disturbance
  • Drooping of the left eyelid since birth (congenital ptosis)
  • Difficult swallowing (oropharyngeal dysphagia)
  • Difficulty speaking (speech motor disorder with stuttering and dysarthria)
  • GI Issues (ulcerative colitis)
  • Inflamed pancreas (pancreatitis)
Current Treatments
  • Melatonin- sleep
  • Onfi, Keppra- seizures
  • Pentasa- ulcerative colitis
  • IVIG- ataxia/neurological symptoms
Prior Treatments
  • Clonidine, clonazepam- confusion/hallucination
  • Dexamethasone, rituximab, ACTH- ataxia/neurological symptoms
  • Trazodone- sleep problems
  • Methotrexate, prednisone, Remicade, Imuran, azathioprine, Infliximab- ulcerative colitis
  • Phenobarbital, Valproate, Lamictal- seizures
  • Triamcinolone, kenalog- inflammation
  • Valproic acid- seizures
Considered treatments
  • Lamotrigine- seizures
  • Adalimumab- ulcerative colitis
Previously Considered Diagnoses
  • Autism
  • Opsoclonus myoclonus ataxia syndrome
  • Single gene disorder – non-diagnostic exome and genome sequencing
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
Unknown
Chr13: 35883725
NM_015678.4
c.5899G>A
p.Gly1967Arg
Autosomal recessive
see gene page
see gene page
see gene page
see gene page
Contact

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