Bilateral megalencephaly refers to megalencephaly affecting both cerebral hemispheres.
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Pathology
Associations
- achondroplasia
- acromegaly
- Alexander disease
- Canavan disease
- mucopolysaccharidoses
- neurofibromatosis type 1 (NF1)
- Proteus syndrome
- Tay-Sachs disease
- tuberous sclerosis (TS)
- vacuolating megalencephalic leukoencephalopathy (van der Knapp disease) 1-2
Radiographic features
Antenatal ultrasound
The diagnosis may be suggested when the HC:AC ratio is above the 99th percentile without evidence of IUGR (i.e low AC), fetal hydrocephalus or an intracranial mass.
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