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Phenotypic manifestations in FLNA-related periventricular nodular heterotopia: a case report and review of the literature
  1. Julie Loft Nagel1,
  2. Aia Elise Jønch2,
  3. Nina T T N Nguyen3 and
  4. Anette Bygum2,4
  1. 1Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark
  2. 2Department of Clinical Genetics, Odense University Hospital, Odense, Denmark
  3. 3Department of Neuroradiology, Odense University Hospital, Odense, Denmark
  4. 4Department of Clinical Research, University of Southern Denmark, Odense, Denmark
  1. Correspondence to Julie Loft Nagel; julienagel{at}live.dk

Abstract

Periventricular nodular heterotopia (PVNH) is an X-linked disease caused by loss-of-function variants in the filamin A (FLNA) gene. FLNA-PVNH is a heterogeneous disorder, and the phenotype is associated with neurological and non-neurological features including cardiovascular, gastrointestinal, pulmonary, haematological, cutaneous and skeletal manifestations. No clear definition of the FLNA-PVNH phenotype has been established, but the patients are predominantly females with seizures, cardiovascular manifestations, and normal intelligence or mild intellectual disability. Herein, we describe a PVNH patient diagnosed with a novel heterozygous missense variant in FLNA after an atypical presentation of deep vein thrombosis and thrombocytopenia. Clinical evaluation found hypermobility, cardiovascular and skin manifestations. Moreover, we conducted a literature review of 186 FLNA-PVNH patients to describe the phenotypic spectrum. In conclusion, our patient highlights the importance of thorough clinical evaluation to identify manifestations in this very heterogeneous disorder. The phenotypic review may guide clinicians in the assessment and follow-up of FLNA-PVNH patients.

  • Dermatology
  • Genetics

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Footnotes

  • Correction notice The article has been corrected since it is published. The subheading 'Discussion' has been updated.

  • Contributors JLN wrote the manuscript draft, conducted the literature search, and edited the final draft of the manuscript. AEJ and AB made critical adjustments to the manuscript. AEJ wrote the genetic aspects of the manuscript and provided patient photos. AEJ and AB had patient contact. NTTNN provided the patient’s brain MRI and description, and revised the manuscript. All authors approved the final manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.

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