Abstract
Key Clinical Message Severe recessive mitochondrial myopathy caused by FBXL4 gene mutations may present prenatally with polyhydramnios and cerebellar hypoplasia. Characteristic dysmorphic features are: high and arched eyebrows, triangular face, a slight upslant of palpebral fissures, and a prominent pointed chin. Metabolic investigations invariably show increased serum lactate and pyruvate levels.
Original language | English |
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Pages (from-to) | 425-428 |
Journal | Clinical Case Reports |
Volume | 4 |
Issue number | 4 |
DOIs | |
Publication status | Published - Apr 2016 |
Keywords
- Cerebellar atrophy
- encephalomyopathy
- FBXL4 gene
- lactate
- mitochondrial encephalopathy
- polyhydramnios
- pyruvate