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Case Reports: Rare disease
Early diagnosis of Malan syndrome in an infant presenting with macrocephaly
  1. Lydia Seed1,
  2. Natasha G2,
  3. Sarah Prentice2,3 and
  4. Prathiba Chandershekar2
  1. 1University of Cambridge School of Clinical Medicine, Cambridge, UK
  2. 2Department of Neonatology, Lister Hospital, East and North Hertfordshire NHS Trust, Stevenage, UK
  3. 3Clinical Research Department, Faculty of Infectious and Tropical Diseases, London School of Hygiene and Tropical Medicine, London, UK
  1. Correspondence to Dr Prathiba Chandershekar; pchandershekar{at}nhs.net

Abstract

We present an infant with persistent macrocephaly and developmental delay. There is a wide range of differential diagnoses for this presentation, including many rare genetic conditions. Here, a diagnosis of Malan syndrome was made—a rare overgrowth syndrome caused by haploinsufficiency of NFIX and features affecting the neurological and musculoskeletal systems. Improvements in genomic medicine technologies and clinical services have revolutionised the way clinicians diagnose rare diseases. We highlight the importance of early genetic testing, particularly if there are red flag features such as developmental delay, and the need for a coordinated strategy to improve the management of rare diseases like Malan syndrome.

  • genetics
  • paediatrics
  • neuro genetics

https://doi.org/10.1136/bcr-2022-249391

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    Footnotes

    • Contributors NG, SP and PCC conceived the case report following clinical care of the patient led by PCC. LS and NG were responsible for drafting the manuscript, with support from SP and PCC. All authors contributed to the final report, have approved it and are accountable for its contents.

    • 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.