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Macrocephaly Capillary Malformation

Case Detail

Anatomy: Brain-Spine
Heather Borders, MD
Diagnostic Category: Developmental or Congenital
Created: over 10 years ago
Updated: over 10 years ago
Tags: PEDS
Modality/Study Types: MRI
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9 month old patient with a history of VP shunt placement for hydrocephalus

Case Images


Macrocephaly capillary malformation aka Macrocephaly cutis marmorata telangiectatic congenita

Clinical Notes

Initial MRI at one month of age was obtained with no evidence of cerebellar herniation. The patient then acquired cerebellar herniation on their second MRI with secondary need for a shunt placement. Images from the third MRI show numerous findings reported with the above syndrome as well as worsening CTH.


Extensive white matter signal abnormality
Cavum septum pellucidum
Acquired cerebellar herniation with altered brainstem morphology/compression and fourth ventricular narrowing (acquired due to rapid brain growth)
Prominent corpus callosum
Large optic nerves


An overgrowth syndrome encompassing numerous brain abnormalities. Prenatal overgrowth with variable somatic and cerebral asymmetry, characteristic facial features, lax joints, cutaneous vascular malformations and digital abnormalities. First delineated in 1997.

Various neuroimaging findings are nicely delineated in the reference article. Findings include: Ventriculomegaly with or without obstruction, Cavum septum pellucidum, Migrational anomalies, cerebellar tonsillar herniation (acquired), brain asymmetry, white matter abnormalities(usually only seen after 6 months of age), large head circumference, enlarged dural venous sinuses, large corpus callosum, large optic nerves or optic nerve sheaths.

Patients who did have spine MRI in the below study did not have evidence of tethering or syrinx.

The cause of cerebellar tonsillar herniation is presumed to be cerebellar overgrowth with a possible secondary contribution from abnormal venous sinuses. Patients with the syndrome require follow up imaging as CTH is likely to worsen over time and can be surprisingly rapid.

In a patient with this syndrome white matter abnormalities should not be pursued as evidence of metabolic disease unless clinical symptoms develop that are atypical of the syndrome.


Neuroimaging Findings in Macrocephaly-capillary malformation: A longitudinal study of 17 patients.
Conway et al. American Journal of Medical genetics part A143A: 2981-3008.

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