About this item:

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  • interstitial lung disease
  • paediatrics
  • thyroid disease
  • Amoxicillin-Potassium Clavulanate Combination
  • Athetosis
  • Chorea
  • Chromosome Deletion
  • Chromosomes, Human, Pair 14
  • Congenital Hypothyroidism
  • Enteral Nutrition
  • Fluid Therapy
  • Genetic Testing
  • Humans
  • Hypoxia
  • Infant
  • Intubation, Gastrointestinal
  • Lung
  • Male
  • Muscle Hypotonia
  • Oxygen
  • Respiratory Distress Syndrome, Newborn
  • Thyroid Nuclear Factor 1
  • Tomography, X-Ray Computed

Hypoxaemia and interstitial lung disease in an infant with hypothyroidism and hypotonia


Journal Title:

BMJ Case Reports


Volume 13, Number 12


Type of Work:



A 7-month-old-term male infant presented with cough, tachypnoea, hypoxaemia and post-tussive emesis. Clinical history was significant for respiratory failure and pulmonary hypertension in the neonatal period requiring assisted ventilation, congenital hypothyroidism, mild hypotonia, recurrent respiratory infections, hypoxaemia requiring supplemental oxygen and nasogastric tube feeds. Physical examination showed tachypnoea, coarse bilateral breath sounds and mild hypotonia. Chest radiograph revealed multifocal pulmonary opacities with coarse interstitial markings and right upper lobe atelectasis. Following antibiotic therapy for suspected aspiration pneumonia, chest CT scan was performed and showed multiple areas of pulmonary consolidation and scattered areas of bilateral ground-glass opacities. Genetic studies showed a large deletion of chromosome 14q13.1-14q21.1, encompassing the NK2 homeobox 1 (NKX2-1) gene consistent with a diagnosis of brain-thyroid-lung (BTL) syndrome. Our case highlights the importance of genetic studies to diagnose BTL syndrome in infants with hypothyroidism, hypotonia and lung disease.
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