EMPF encephalopathy; encephalopathy, lethal, due to defective mitochondrial & peroxisomal fission (EMPF)

Epidemiology

rare

Pathology

• systemic disorder resulting in lack of neurologic development & death in infancy
• abnormal gyral pattern in both frontal lobes associated with dysmyelination

Genetics

• autosomal dominant
• associated with defects in DNM1L

Clinical manifestations

• after birth, infants present in the first week of life with
  • poor feeding
  • neurologic impairment
    • hypotonia
    • little spontaneous movement
    • no tendon reflexes
    • no response to light stimulation
    • poor visual fixation
• other features include
  • microcephaly
  • deep-set eyes
  • optic atrophy
  • hypoplasia

Laboratory

• plasma very-long-chain fatty acids: mildly elevated
• plasma lactate: lactic acidosis

More general terms

• encephalopathy
• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/614388