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Participant 149


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Male, age 2 with seizures, absent speech, failure to thrive, and small head size (acquired microcephaly)

Date of Report

Oct 17, 2019

Description

The participant’s seizures were first noticed when he was 2 days old. However, they may have started during the pregnancy since some movements were noticed in utero. These seizures were described as small jerking motions. He spent 5 days in the NICU and was discharged with seizure medication. He was started on an additional seizure medication at 1.5 months old. At 3 months old, his seizure medication was doubled due to increased seizure activity. These seizures would last an hour and became more frequent over time. At 12 months old, infantile spasms were noticed and treatment began. At this time, the participant’s regression in eating skills and arm weight bearing normalized. A ketogenic diet was started at 2 years and helped with seizure control.

At 5 months old, the participant was noticed to have signs of developmental delay, including not being able to track or roll over.  At 2 years old, he is currently not rolling over or sitting up. He recently began cooing and babbling.

The participant had feeding difficulties and currently has a gastrostomy tube, which has helped with weight gain. Around 10 months old, it was noticed that his head size was small for his age (microcephaly).

The participant was evaluated by ophthalmology and was found to have visual impairment (cortical visual impairment, homonymous hemianopsia) and repetitive, uncontrolled eye movements (nystagmus).

Symptoms / Signs
  • Global developmental delay
  • Absent speech
  • Failure to thrive
  • Seizures (focal-onset seizure, multifocal seizures, infantile spasms)
  • Low muscle tone in the trunk (truncal hypotonia)
  • High muscle tone in the limbs (appendicular hypertonia)
  • Sudden muscle jerks (clonus)
  • Small head size (acquired microcephaly)
  • Brain abnormalities (abnormality of the cerebral white matter, degeneration of anterior horn cells, cerebral hypomyelination, simplified gyral pattern)
  • Visual impairment
  • Repetitive, uncontrolled eye movements (congenital nystagmus)
  • Cross-eyed (strabismus)
  • Compensatory face turn to the left
  • Undescended testis (unilateral cryptorchidism)
Current Treatments
  • Clobazam, Gabapentin, Ketogenic diet, Lamotrigine, Vigabatrin – seizures
  • Gastrostomy tube – feeding difficulties
Prior Treatments
  • ACTH – infantile spasms
  • Dilantin, Keppra, Oxcarbazepine, Zonisamide – seizures
  • Vitamin B6
Considered treatments
Previously Considered Diagnoses
  • Angelman/Prader-Willi syndrome
  • Metabolic disorder
  • Mitochondrial disorder
  • SCN8A epileptic encephalopathy
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
Autosomal dominant
chr9:g.140076320
NM_013366.3
c.1287-6C>G
Autosomal recessive
chr12:g.48062788; chr12:g.48096499
NM_024604.2
c.1624delC; c.125T>C
p.Leu542PhefsTer18; p.Leu42Pro
Contact

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