Macrocephaly is a clinical and radiological term that refers to a generalized increase in the size of the cranial vault.
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Terminology
This slightly differs from the term megalencephaly which means an increase in the size of the brain parenchyma.
Epidemiology
content pending
Clinical presentation
In some individuals a large head is normal or something that is familial.
However in others it is related to a syndrome, and other features may be present, see long list of causes below.
Pathology
Etiology
In an infant it can result from a wide range of causes:
- congenital hydrocephalus: this, in turn, can result from a multitude of causes
- hydranencephaly: the choroid still forms CSF
- subdural fluid collection
- neurofibromatosis type 1
- achondroplasia
- hypochondroplasia
- thanatophoric dysplasia
- tuberous sclerosis complex
- metabolic storage diseases, e.g. mucopolysaccharidoses
- Alexander disease
- Greig syndrome
- Gorlin-Goltz syndrome
- Ruvalcaba syndrome
- Canavan disease 3
- cranio-cerebello-cardiac (CCC) syndrome
- Sotos syndrome
- Bannayan–Riley–Ruvalcaba syndrome (BRRS) 1
- arterial tortuosity syndrome
- Weaver syndrome
- fragile X syndrome
- Noonan syndrome
- Costello syndrome
- LEOPARD syndrome
Radiographic features
Some define the condition on skull radiography when the head circumference is more than two standard deviations above the mean or exceeds the 97th percentile by at least 0.5 cm 4.
See also
- benign enlargement of the subarachnoid spaces in infancy as a benign cause of macrocephaly
- fetal macrocephaly