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Participant 024


developmental delay, seizures

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Female, age 2 with developmental delay, seizures, vision loss (cortical visual impairment) and a small head size (microcephaly)

Date of Report

Jun 07, 2017

Description

At 3 months, the patient began having seizures (generalized tonic and complex partial seizures), which was confirmed by EEG. A head CT at this time was normal. An MRI at 7 months showed a small head size (microcephaly) and underdeveloped nerve fibers joining the hemispheres of the brain (hypoplasia of the corpus callosum). At 13 months, the patient had a vagal nerve stimulator placed to help resolve the seizures.

The patient also has vision loss (cortical visual impairment), early breast development (premature thelarche), and a G-tube for feeding.

Developmentally, the patient is able to roll over and sit. Before her seizures started, she was able to coo, laugh, and smile. Over time, her development has regressed. Currently she does not talk, smile, or walk.

Symptoms / Signs
  • Developmental delay
  • Seizures (generalized tonic and complex partial seizures)
  • Underdeveloped nerve fibers joining the two hemispheres of the brain (hypoplasia of the corpus callosum)
  • Small head size (microcephaly)
  • Vision loss (cortical visual impairment)
  • Abnormal eye movement
  • Early breast development (premature thelarche)
  • Abnormal movement
Current Treatments
  • Vagal nerve stimulator- seizures
  • Levetiracetam, phenobarbital, lacosamide- seizures
  • G-tube- feeding difficulties
Prior Treatments
  • Felbamate, clonazepam – seizures
Considered treatments
Previously Considered Diagnoses
  • Microdeletion/duplication syndrome
  • Mitochondrial condition
  • Rett syndrome
  • Rett-like conditions
Other Photographs
Genetic Variants of Interest
Contact

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