Brain overgrowth associated with megalencephaly-capillary malformation syndrome causing progressive Chiari and syringomyelia
- Department of Neurosurgery, University Hospitals Leuven, Leuven, Belgium.
- Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
Tom Deleu, Department of Neurosurgery, University Hospitals Leuven, Leuven, Belgium.
DOI:10.25259/SNI_1016_2021Copyright: © 2022 Surgical Neurology International This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-Share Alike 4.0 License, which allows others to remix, transform, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
How to cite this article: Tom Deleu1, Katrien Jansen2, Frank Van Calenbergh1. Brain overgrowth associated with megalencephaly-capillary malformation syndrome causing progressive Chiari and syringomyelia. 20-May-2022;13:211
How to cite this URL: Tom Deleu1, Katrien Jansen2, Frank Van Calenbergh1. Brain overgrowth associated with megalencephaly-capillary malformation syndrome causing progressive Chiari and syringomyelia. 20-May-2022;13:211. Available from: https://surgicalneurologyint.com/surgicalint-articles/11605/
Background: Megalencephaly-capillary malformation (M-CM) syndrome is a rare overgrowth syndrome characterized by macrocephaly, port-wine stains, asymmetric brain growth, hydrocephalus, and developmental delay. Cerebellar tonsil herniation is often seen, but rarely with syringomyelia.
Case Description: A newborn with M-CM syndrome developed a progressive Chiari malformation type I (CM-I) with syringomyelia. At 4 months, he was treated for subdural hematomas, while at 10 months, he required a shunt for hydrocephalus. At 16 years of age, he newly presented a left hemiparesis and ataxia. Notably, successive volumetric measurements of the posterior fossa/cerebellum showed disproportionate cerebellar growth over time that correlated with the appearance of a CM-I. Following a suboccipital craniectomy with C1-laminectomy and duraplasty, he neurologically improved.
Conclusion: M-CM with CM-I and syringomyelia rarely present together. Here, we treated an infant with M-CM who developed a progressive CM-I malformation and syringomyelia reflecting disproportionate growth of the cerebellum/posterior fossa over a 16-year period.
Keywords: Chiari I malformation, Megalencephaly-capillary malformation, Overgrowth syndromes, Syringomyelia
Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is a rare condition. It is characterized by macrocephaly, port-wine stains, asymmetric growth, polydactyly, joint hyperlaxity, and central nervous system abnormalities (i.e., including hydrocephalus and developmental delay).[
A male infant, diagnosed with M-CMTC/M-CM, presented with diffuse capillary malformations on his face, neck, shoulders, and limbs at birth. At 4 months of age, the MRI showed progressive macrocrania with large subdural hematomas requiring evacuation. Volumetric measurements of the posterior fossa and cerebellum on sequential MRI’s (i.e., using the iPlan™ software [Brainlab AG, Munich, Germany]) were performed. They showed a steep rise in the ratio of cerebellar to posterior fossa volume between the MRI at 4 months and at 10 months that coincided with the appearance of a CM-I [
Seventy percent of M-CM patients have a CM-I,[
Vascular malformations are one of the two main features of the M-CM syndrome.[
An infant presented with M-CM syndrome; at 4 months, he had subdural hematomas, and at 10 months, hydrocephalus requiring shunt placement. Over the subsequent 16-year follow-up, and due to disproportionate growth of the cerebellum and posterior fossa, he developed a progressive CM-I malformation and holocord syringomyelia warranting a suboccipital craniectomy and C1 laminectomy, with duraplasty.
The authors certify that they have obtained all appropriate patient consent.
There are no conflicts of interest.
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