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Selected causes of macrocephaly

Selected causes of macrocephaly
Increased brain (megalencephaly) Increased blood
Anatomic: Metabolic:
  • Leukodystrophies (eg, Alexander disease, Canavan disease, megalencephalic leukoencephalopathy)
  • Lysosomal diseases (eg, Tay-Sachs, mucopolysaccharidosis, gangliosidosis)
  • Organic acid disorders (eg, glutaric aciduria)
  • Hemorrhage (intraventricular, subdural, epidural, subarachnoid)
  • Arteriovenous malformation
Increased bone
  • Bone marrow expansion (eg, thalassemia major)
  • Primary bone disorders (eg, skeletal and cranial dysplasias such as achondroplasia, osteogenesis imperfecta, cleidocranial dysostosis, metaphyseal dysplasia, osteopetrosis, hyperphosphatasia)
Increased intracranial pressure
  • Idiopathic (pseudotumor cerebri)
  • Infection or inflammation (eg, meningitis)
  • Toxins (eg, lead)
  • Metabolic abnormalities (eg, vitamin A deficiency or excess, galactosemia)
Increased cerebrospinal fluid Mass lesions
  • Hydrocephalus*
  • Benign enlargement of the subarachnoid space
  • Hydranencephaly
  • Choroid plexus papilloma
  • Intracranial cyst
  • Intracranial tumor
  • Intracranial abscess
* Refer to UpToDate topic on hydrocephalus for information about the causes of hydrocephalus.
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