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Arch Dis Child Fetal Neonatal Ed 98:F361 doi:10.1136/archdischild-2012-303236
  • Images in neonatal medicine
  • Images in neonatal medicine

Silencing a noisy goitre sans scalpel

  1. B Vishnu Bhat
  1. Department of Pediatrics and Nuclear Medicine, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India
  1. Correspondence to Dr Adhisivam Bethou, Department of Pediatrics, JIPMER, Pondicherry 605 006, India; adhisivam1975{at}yahoo.co.uk
  • Received 19 October 2012
  • Revised 28 November 2012
  • Accepted 3 December 2012
  • Published Online First 8 January 2013

A term male baby weighing 2.6 kg born by spontaneous vaginal delivery was noted to have a large neck swelling and respiratory distress. Antenatal ultrasonography had revealed a large thyroid swelling encasing the trachea but not extending into the mediastinum or causing obstruction. The mother was clinically euthyroid and was not on any drugs. On examination, he had severe stridor and tachypnoea and required oxygen by nasal prongs. His neck was hyperextended due to the presence of a soft, large trilobed mass occupying the anterior and lateral aspects of the neck (figure 1). No bruit was audible over the mass. The location, shape and movement with deglutition suggested a diagnosis of congenital goitre. The other systemic examination was normal and no other anomalies were noted. Hearing was normal.

Figure 1

Hyperextended neck with the large congenital goitre.

The thyroid function tests revealed a high thyroid stimulating hormone (TSH) (>150 μIU/l) and low T4 (0.28 ng/dl) level. A postnatal neck ultrasonography confirmed the antenatal findings. A radionuclide scan showed thyromegaly with increased tracer uptake suggesting dyshormonogenesis. He was started on L-thyroxine (15 μg/kg/day) and a gradual decrease in stridor and size of the swelling were noted obviating the need for a surgical resection.

Congenital hypothyroidism, occurring in 1:3000 newborns, is one of the most common preventable causes of mental retardation.1 Dyshormonogenesis may be suspected in an infant detected with goitrous hypothyroidism.2 These inborn errors of thyroid hormone biosysnthesis are the result of mutations in the sodium-iodide symporter, thyroid peroxidase, thyroglobulin or iodotyrosine deiodinase genes. All of these inborn errors are autosomal recessive, and so they carry a 25% recurrence risk in future pregnancies.3 When the goitre is large enough to cause respiratory obstruction, surgical relief of the obstruction is often necessary. But in our case, supportive care and L-thyroxine were enough to achieve clinical silence without the scalpel.

Footnotes

  • Contributors AB, drafted manuscript and coordinated management; KNH, involved in follow up of the baby; PF, JR,  PP, SKB, involved in clinical management; GDB, coordinated investigations; DH, performed radionuclide scan; VBB, edited the manuscript and will be guarantor.

  • Competing interests None.

  • Patient consent Obtained.

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

References

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