You are here

Article Text

Article menu
Download PDFPDF
Epilogue
Infant with macroglossia
  1. Kathryn Mullan1,
  2. Cheryl Keel1,
  3. Martha McKenna1,
  4. Emmeline Heffernan1,
  5. Sarah Kapur1,
  6. Peter Mallett1,2,
  7. Andrew Thompson1
  1. 1 Royal Belfast Hospital for Sick Children, Belfast, UK
  2. 2 Centre of Medical Education, Faculty of Medicine Health and Life Sciences, Queen's University Belfast, Belfast, N.Ireland
  1. Correspondence to Dr Kathryn Mullan, Royal Belfast Hospital for Sick Children, Belfast, UK; Kathryn.mullan{at}belfasttrust.hscni.net

https://doi.org/10.1136/archdischild-2023-326806

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    A 10-month-old boy was admitted with a 4-month history of progressive macroglossia, coarse facial features and loss of motor skills (figure 1).

    Figure 1

    Infant with macroglossia.

    Test your knowledge

    1. What is the most likely diagnosis?

      1. Beckwith Wiedemann syndrome (BWS).

      2. Hypothyroidism.

      3. Glycogen storage disorder.

      4. Mosaic Down syndrome.

      5. Mucopolysaccharidosis (MPS).

    A detailed history revealed a 6-month history of constipation and dry skin. While he had not yet started walking, he had demonstrated progressive fatigability and a loss of motor skills. The antenatal history and delivery were uneventful; the neonatal screening was normal. Physical examination revealed a pale child with dry skin, coarse facial features, macroglossia and myxoedema (figure 1). His thyroid gland was not palpable. The child’s weight was on the 91st centile, length was between the 9th and 25th centiles and head circumference was on the 46th centile, respectively.

    1. The UK newborn screening …

    View Full Text

    Footnotes

    • X @katemullan8, @SimEdRBHSC, @No twitter

    • CK and SK contributed equally.

    • Contributors KM, CK, SK, MM and EH were involved in the clinical management and ongoing care of the patient. SK conceived the original idea. KM wrote the manuscript with support from all authors. AT and PM supervised the project.

    • 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.

    • Competing interests None declared.

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