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Case Reports
. 2023 Mar;39(3):825-828.
doi: 10.1007/s00381-022-05703-4. Epub 2022 Oct 21.

Communicating hydrocephalus and raised intracranial pressure in association with multi-systemic smooth muscle dysfunction syndrome (MSMDS)

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Case Reports

Communicating hydrocephalus and raised intracranial pressure in association with multi-systemic smooth muscle dysfunction syndrome (MSMDS)

Anthony Roylance et al. Childs Nerv Syst. 2023 Mar.

Abstract

Multi-systemic smooth muscle dysfunction syndrome (MSMDS) is extremely rare and can manifest in multiple ways. Associated hydrocephalus has not yet been reported. Here, we report a three-year-old girl with communicating hydrocephalus and raised intracranial pressure secondary to MSMDS. Pathological mechanisms are proposed, as is the need to investigate patients diagnosed with MSMDS for ventriculomegaly and raised pressure.

Keywords: ACTA2; Leukomalacia; Ventriculomegaly.

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References

    1. Milewicz DM et al (2010) De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. Am J Med Genet A 152A:2437–2443 - DOI - PubMed - PMC
    1. Meuwissen ME et al (2013) ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome. Am J Med Genet A 161A:1376–1380 - DOI - PubMed
    1. Clinton WR (2003) Smooth muscle contraction and relaxation. Adv Physiol Edu 27(4):201–206 - DOI
    1. Lu H et al (2016) Severe molecular defects exhibited by the R179H mutation in human vascular smooth muscle α-actin. J Biol Chem 291:21729–21739 - DOI - PubMed - PMC
    1. Georgescu MM et al (2015) The defining pathology of the new clinical and histopathologic entity ACTA2-related cerebrovascular disease. Acta Neuropathol Commun 3:81 - DOI - PubMed - PMC

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