Search
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
General
encephalopathy
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 614388
References
OMIM :accession 614388