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

Description

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).
  • Uneven hair colour.

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

Contact

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