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Brain overgrowth associated with megalencephaly-capillary malformation syndrome causing progressive Chiari and syringomyelia

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 DESCRIPTIO...

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Autores principales: Deleu, Tom, Jansen, Katrien, Calenbergh, Frank Van
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Scientific Scholar 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9168292/
https://www.ncbi.nlm.nih.gov/pubmed/35673641
http://dx.doi.org/10.25259/SNI_1016_2021
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author Deleu, Tom
Jansen, Katrien
Calenbergh, Frank Van
author_facet Deleu, Tom
Jansen, Katrien
Calenbergh, Frank Van
author_sort Deleu, Tom
collection PubMed
description 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.
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spelling pubmed-91682922022-06-06 Brain overgrowth associated with megalencephaly-capillary malformation syndrome causing progressive Chiari and syringomyelia Deleu, Tom Jansen, Katrien Calenbergh, Frank Van Surg Neurol Int Case Report 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. Scientific Scholar 2022-05-20 /pmc/articles/PMC9168292/ /pubmed/35673641 http://dx.doi.org/10.25259/SNI_1016_2021 Text en Copyright: © 2022 Surgical Neurology International https://creativecommons.org/licenses/by-nc-sa/4.0/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.
spellingShingle Case Report
Deleu, Tom
Jansen, Katrien
Calenbergh, Frank Van
Brain overgrowth associated with megalencephaly-capillary malformation syndrome causing progressive Chiari and syringomyelia
title Brain overgrowth associated with megalencephaly-capillary malformation syndrome causing progressive Chiari and syringomyelia
title_full Brain overgrowth associated with megalencephaly-capillary malformation syndrome causing progressive Chiari and syringomyelia
title_fullStr Brain overgrowth associated with megalencephaly-capillary malformation syndrome causing progressive Chiari and syringomyelia
title_full_unstemmed Brain overgrowth associated with megalencephaly-capillary malformation syndrome causing progressive Chiari and syringomyelia
title_short Brain overgrowth associated with megalencephaly-capillary malformation syndrome causing progressive Chiari and syringomyelia
title_sort brain overgrowth associated with megalencephaly-capillary malformation syndrome causing progressive chiari and syringomyelia
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9168292/
https://www.ncbi.nlm.nih.gov/pubmed/35673641
http://dx.doi.org/10.25259/SNI_1016_2021
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