Idiopathic Intracranial Hypertension in a Child with Marfan Syndrome: Clinical, Neuroimaging, and Biomarker Findings from a Case Report.

Giorgia Sforza, Carmen Maritato, Gaia Anzini, Alessia Carboni, Claudia Ruscitto, Laura Papetti, Massimiliano Valeriani

Abstract readCase Reports

In one paragraph

Article in Life (Basel, Switzerland), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

7 authors.

Giorgia SforzaDevelopmental Neurology Unit, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.ORCID 0000-0003-3068-4768

Carmen MaritatoDepartment of Maternal, Infantile and Urological Sciences, Sapienza University of Rome, 00185 Rome, Italy.

Gaia AnziniFondazione Policlinico Universitario Campus Bio-Medico, 00128 Rome, Italy.

Alessia CarboniDiagnostic and Interventional Neuroradiology Unit and Vascular Anomalies, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.ORCID 0000-0003-3888-1889

Claudia RuscittoDevelopmental Neurology Unit, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.

Laura PapettiDevelopmental Neurology Unit, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.ORCID 0000-0002-3336-9205

Massimiliano ValerianiDevelopmental Neurology Unit, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.ORCID 0000-0001-6602-103X

Funding

Ministry of Health

6 · The paper itself

Abstract

Marfan syndrome (MFS) is a connective tissue disorder classically associated with cardiovascular, musculoskeletal, and ocular manifestations. Neurological involvement is increasingly recognized and is most commonly related to spontaneous intracranial hypotension secondary to dural ectasia and cerebrospinal fluid (CSF) leakage. By contrast, idiopathic intracranial hypertension (IIH) is exceptionally rare in pediatric patients with MFS. We report the case of an 8-year-old girl with Marfan syndrome presenting with neck pain, diplopia, bilateral papilledema, and bilateral sixth cranial nerve palsy. Brain MRI demonstrated optic nerve tortuosity, distension of the perioptic subarachnoid spaces, and partial empty sella, while venous sinus thrombosis and spinal CSF leakage were excluded. Lumbar puncture confirmed markedly elevated CSF opening pressure (48 cmH

Indexed as

headacheidiopathic intracranial hypertensionIIHMarfan syndromeneurofilament light chainpapilledemapediatrics

Identifiers

PMID42652980

DOI10.3390/life16081292

PMCPMC13514114

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.