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).
- 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.
- Feeding difficulties (is fed through a PEG).
- Uneven hair colour.
- Topiramat, anti-epileptic.
- Esomeprazol, reflux.
- Ubidecarenone (Coenzyme Q10), in case of mitochondrial disease.
- Infantile spasm and anti-epileptic treatment: synacten, vigabatrin
Previously Considered Diagnoses
- Progressive neurodegenerative metabolic disease of unknown origin
Genetic Variants of Interest
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