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Unilateral leg swelling in an infant
  1. Shilpa Shah1,
  2. Sarah Berry1,
  3. Laura Bingham1,
  4. Gillian Rea2
  1. 1 Department of Paediatrics, Southern Health and Social Care Trust, Portadown, UK
  2. 2 Department of Clinical Genetics, Belfast Health and Social Care Trust, Belfast, UK
  1. Correspondence to Dr Shilpa Shah, Department of paedaitrics, Southern Health and Social Care Trust, Portadown, BT63 5QQ, UK; drshilparshah{at}yahoo.co.uk

Abstract

An 8-month-old boy presented with a week’s history of left lower limb swelling. He was apyrexic, well and developmentally age appropriate. He was born at 35+5 via by C-section for breech presentation, weighing 3.47 kg (97th centile).

His left calf measured 21.5 cm and the right calf 19.5 cm. The overlying skin showed mild eczema. There was no circulatory compromise of the left leg, and he was systemically well.

X-rays of the left tibia and fibula were normal. He received oral antibiotics for presumed cellulitis. A follow-up showed some improvement (figure 1). A subsequent Doppler ultrasound of the left leg was normal.

Figure 1

Appearance of both calves at age 10 months.

He continued to show size variation of the calf (figure 2). A pit on the helix of left ear and a faded haemangioma over left eyelid were noted.

Figure 2

Appearance of both calves at age 15 months.

Blood investigations including full blood count, C reactive protein, electrolytes, muscle enzymes (CK), liver, thyroid, bone profile, alpha feto protein and insulin-like growth factor 1 were normal. Abdominal scan was normal.

Questions

  1. What is the most likely diagnosis?

    1. Cellulitis

    2. Perlman syndrome

    3. Sotos syndrome

    4. Beckwith-Wiedemann syndrome (BWS)

    5. Simpson-Golabi-Behmel syndrome

    6. Deep venous thrombosis (DVT)

  2. What should we do next?

  3. How would you manage the condition?

  4. What are the complications associated with this condition?

Questions Answers can be found on page 2.

  • beckwith-weidemann syndrome
  • genetic testing
  • neoplasm
  • macroglossia

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Footnotes

  • Competing interests None declared.

  • Patient consent Parental/guardian consent obtained.

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

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