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Brief ReportCLINICAL REPORT

Revisiting a Rare Anomaly Described 25 Years Ago in the AJNR: A Journey from Pediatric Hemifacial Microsomia and Middle Cranial Fossa Aplasia to CSF-Lymphatic Fistula and Spontaneous Intracranial Hypotension as an Adult

Andrew L Callen, Ashoke R Khanwalkar, Michael L Cunningham, Samantha L Pisani Petrucci, Debayan Bhaumik, Danielle Wilhour, Premal Trivedi, Peter Lennarson and David A Zander
American Journal of Neuroradiology March 2025, ajnr.A8760; DOI: https://doi.org/10.3174/ajnr.A8760
Andrew L Callen
From the Department of Radiology, (A.L.C., S.L.P., D.B, P.T., D.A.Z), Department of Otolaryngology, Head and Neck Surgery (A.R.K), University of Colorado Anschutz Medical Campus, Aurora, CO, USA, Department of Pediatrics, Center of Developmental Biology and Regenerative Medicine and Division of Craniofacial Medicine (M.L.C.) University of Washington, Seattle, WA, USA, Department of Neurology (A.L.C., D.W), and Department of Neurosurgery (P.L.) University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
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Ashoke R Khanwalkar
From the Department of Radiology, (A.L.C., S.L.P., D.B, P.T., D.A.Z), Department of Otolaryngology, Head and Neck Surgery (A.R.K), University of Colorado Anschutz Medical Campus, Aurora, CO, USA, Department of Pediatrics, Center of Developmental Biology and Regenerative Medicine and Division of Craniofacial Medicine (M.L.C.) University of Washington, Seattle, WA, USA, Department of Neurology (A.L.C., D.W), and Department of Neurosurgery (P.L.) University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
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Michael L Cunningham
From the Department of Radiology, (A.L.C., S.L.P., D.B, P.T., D.A.Z), Department of Otolaryngology, Head and Neck Surgery (A.R.K), University of Colorado Anschutz Medical Campus, Aurora, CO, USA, Department of Pediatrics, Center of Developmental Biology and Regenerative Medicine and Division of Craniofacial Medicine (M.L.C.) University of Washington, Seattle, WA, USA, Department of Neurology (A.L.C., D.W), and Department of Neurosurgery (P.L.) University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
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Samantha L Pisani Petrucci
From the Department of Radiology, (A.L.C., S.L.P., D.B, P.T., D.A.Z), Department of Otolaryngology, Head and Neck Surgery (A.R.K), University of Colorado Anschutz Medical Campus, Aurora, CO, USA, Department of Pediatrics, Center of Developmental Biology and Regenerative Medicine and Division of Craniofacial Medicine (M.L.C.) University of Washington, Seattle, WA, USA, Department of Neurology (A.L.C., D.W), and Department of Neurosurgery (P.L.) University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
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Debayan Bhaumik
From the Department of Radiology, (A.L.C., S.L.P., D.B, P.T., D.A.Z), Department of Otolaryngology, Head and Neck Surgery (A.R.K), University of Colorado Anschutz Medical Campus, Aurora, CO, USA, Department of Pediatrics, Center of Developmental Biology and Regenerative Medicine and Division of Craniofacial Medicine (M.L.C.) University of Washington, Seattle, WA, USA, Department of Neurology (A.L.C., D.W), and Department of Neurosurgery (P.L.) University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
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Danielle Wilhour
From the Department of Radiology, (A.L.C., S.L.P., D.B, P.T., D.A.Z), Department of Otolaryngology, Head and Neck Surgery (A.R.K), University of Colorado Anschutz Medical Campus, Aurora, CO, USA, Department of Pediatrics, Center of Developmental Biology and Regenerative Medicine and Division of Craniofacial Medicine (M.L.C.) University of Washington, Seattle, WA, USA, Department of Neurology (A.L.C., D.W), and Department of Neurosurgery (P.L.) University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
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Premal Trivedi
From the Department of Radiology, (A.L.C., S.L.P., D.B, P.T., D.A.Z), Department of Otolaryngology, Head and Neck Surgery (A.R.K), University of Colorado Anschutz Medical Campus, Aurora, CO, USA, Department of Pediatrics, Center of Developmental Biology and Regenerative Medicine and Division of Craniofacial Medicine (M.L.C.) University of Washington, Seattle, WA, USA, Department of Neurology (A.L.C., D.W), and Department of Neurosurgery (P.L.) University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
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Peter Lennarson
From the Department of Radiology, (A.L.C., S.L.P., D.B, P.T., D.A.Z), Department of Otolaryngology, Head and Neck Surgery (A.R.K), University of Colorado Anschutz Medical Campus, Aurora, CO, USA, Department of Pediatrics, Center of Developmental Biology and Regenerative Medicine and Division of Craniofacial Medicine (M.L.C.) University of Washington, Seattle, WA, USA, Department of Neurology (A.L.C., D.W), and Department of Neurosurgery (P.L.) University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
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David A Zander
From the Department of Radiology, (A.L.C., S.L.P., D.B, P.T., D.A.Z), Department of Otolaryngology, Head and Neck Surgery (A.R.K), University of Colorado Anschutz Medical Campus, Aurora, CO, USA, Department of Pediatrics, Center of Developmental Biology and Regenerative Medicine and Division of Craniofacial Medicine (M.L.C.) University of Washington, Seattle, WA, USA, Department of Neurology (A.L.C., D.W), and Department of Neurosurgery (P.L.) University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
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Abstract

ABSTRACT This report presents a unique case of a 39-year-old female with a congenital unilateral aplasia of the middle cranial fossa floor associated with atypical hemifacial microsomia, initially described in a case report at age 14, who later developed a transosseous cerebrospinal fluid (CSF)-lymphatic fistula through the C1 vertebral body. Dynamic CT cisternography confirmed the diagnosis, and a transnasal percutaneous fibrin glue occlusion successfully reversed the patient’s brain sag and improved her symptoms. This case highlights the evolving understanding of CSF dynamics and the diagnostic and therapeutic challenges posed by rare CSF leak variants.

ABBREVIATIONS: CSF = cerebrospinal fluid; SIH = spontaneous intracranial hypotension.

Footnotes

  • No authors have relevant conflicts of interest to disclose.

  • © 2025 by American Journal of Neuroradiology

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Revisiting a Rare Anomaly Described 25 Years Ago in the AJNR: A Journey from Pediatric Hemifacial Microsomia and Middle Cranial Fossa Aplasia to CSF-Lymphatic Fistula and Spontaneous Intracranial Hypotension as an Adult
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Accepted Manuscript
Andrew L Callen, Ashoke R Khanwalkar, Michael L Cunningham, Samantha L Pisani Petrucci, Debayan Bhaumik, Danielle Wilhour, Premal Trivedi, Peter Lennarson, David A Zander
Revisiting a Rare Anomaly Described 25 Years Ago in the AJNR: A Journey from Pediatric Hemifacial Microsomia and Middle Cranial Fossa Aplasia to CSF-Lymphatic Fistula and Spontaneous Intracranial Hypotension as an Adult
American Journal of Neuroradiology Mar 2025, ajnr.A8760; DOI: 10.3174/ajnr.A8760

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Accepted Manuscript
Revisiting a Rare Anomaly Described 25 Years Ago in the AJNR: A Journey from Pediatric Hemifacial Microsomia and Middle Cranial Fossa Aplasia to CSF-Lymphatic Fistula and Spontaneous Intracranial Hypotension as an Adult
Andrew L Callen, Ashoke R Khanwalkar, Michael L Cunningham, Samantha L Pisani Petrucci, Debayan Bhaumik, Danielle Wilhour, Premal Trivedi, Peter Lennarson, David A Zander
American Journal of Neuroradiology Mar 2025, ajnr.A8760; DOI: 10.3174/ajnr.A8760
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Print ISSN: 0195-6108 Online ISSN: 1936-959X

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