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Participant 104


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Male, age 7 with global developmental delay, abnormal muscle contractions (dystonia), repetitive behaviors (stereotypy) and decreased tear secretion and sweating

Date of Report

Jan 11, 2019

Description

At 6 months, the participant’s parents noticed that he was not meeting his developmental milestones. Soon after, he was noticed to have abnormal muscle contractions (dystonia) and seizure-like symptoms. Currently, the participant does not walk and is non-verbal with limited receptive language. He experiences sleep issues and has repetitive behaviors (stereotypy) and inappropriate laughter.

The participant’s body also has difficulty regulating itself (autonomic dysfunction). For example, he has decreased tear secretion (decreased lacrimation), decreased sweating, and constipation. However, he can regulate his own body temperature.

Symptoms / Signs
  • Global developmental delay
  • Abnormal muscle contractions (dystonia)
  • Repetitive behaviors (stereotypy)
  • Inappropriate laughter
  • Brain disease (encephalopathy)
  • Small head size (microcephaly)
  • Decreased tear secretion (decreased lacrimation)
  • Decreased sweating due to an inability to regulate the body (autonomic dysfunction)
  • Sleep disturbance
  • Low glucose level in cerebrospinal fluid (CSF) (hypoglycorrhachia)
  • Constipation
Current Treatments
  • Neurontin – sleep disturbance
  • Occupational, speech and physical therapy
  • Topamax – epilepsy
Prior Treatments
  • Acetazolamide, clonidine, gabapentin, ketogenic diet, levocarnitine, triheptanonin – neurodevelopmental symptoms
Considered treatments
Previously Considered Diagnoses
  • Fragile X syndrome
  • GLUT1 deficiency
  • Metabolic condition
  • Microdeletion/duplication disorder
Other Photographs
Genetic Variants of Interest
Contact

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