Participant 101

Participant 101

Born w 35. Small for gestational age. Neonatal low glucose. Degeneration of brain white matter during the first months, stable since ~6 months of age. Metabolic disease has been suspected since birth

Date of Report


Born in week 35, through Caesarean due to reduced movement and heart sounds with low variability. Apgar 6-7-10. Small for gestational age (1618 g). Neonatal low glucose, persistent despite i.v. administration. Low platelets. Seizures when 1 week old, MRI of the brain showed metabolic stress in the white matter.

Motor and visual impairment evident at 3 months. New MRI at 6 months showed symmetrical reduction of white matter, which hinted at progressive neurodegenerative metabolic disease. Infantile spasms at 9 months. Has persistent epileptiform activity in EEG but no certain clinical signs of epilepsy since then. Troublesome myoclonus when falling asleep.

Has had a lot of problems with nausea and vomiting. Got a PEG at 15 months. Some developmental progress, most evident with social abilities and semi-voluntary leg movement.

Metabolic disease has been suspected since his birth. Tests have been normal, though a “low-normal” activity in mitochondrial complex 2+3 was noted. No findings so far after sequencing of exon + intron. MRI at 2 years showed no further degeneration.

Symptoms / Signs

  • Neonatal stage: Small for gestational age, low blood glucose, low platelets.
  • Cerebral white matter atrophy (progressive until approximately 6 months of age).
  • Microcephaly.
  • Severe global developmental delay 
  • Severely limited motor skills (Can’t sit or control his limbs).
  • Shifting tonus.
  • Cortical visual impairment with light perception only.
  • Nonverbal babbling.
  • Epilepsy.
  • Myoclonus. 
  • Nausea.
  • Feeding difficulties (is fed through a PEG).

Current Treatments

  • Topiramat, anti-epileptic.
  • Esomeprazol, reflux.
  • Ubidecarenone (Coenzyme Q10), in case of mitochondrial disease.

Prior Treatments

  • Infantile spasm and anti-epileptic treatment: synacten, vigabatrin

Considered treatments

Previously Considered Diagnoses

  • Progressive neurodegenerative metabolic disease of unknown origin

Genetic Variants of Interest

  • None


If this participant sounds like you or someone you know, please contact us!

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