Grand Rounds

A Female Child with Recurrent Pneumonia and Webbing of Neck

Senthil Kumar Palaniappan, Thiyagarajan Srinivasan
Department of Pediatrics, Masonic Medical Centre for Children, Coimbatore, Tamilnadu, India

Address for Correspondence: Dr. Senthil Kumar Palaniappan, Consultant Pediatrician, Masonic Medical Centre for Children, Coimbatore-641018, Tamilnadu, India. Email:

Keywords: Sex Chromosome, Aneuploidy, Trisomy X

Clinical Problem:
A 4 years old female child was admitted with hurried breathing for one day, fever with cough and cold for three days. She was admitted thrice previously for pneumonia elsewhere. She underwent closure of patent ductus arteriosus (PDA) at 1year 6 months of age. She was born by lower segment cesarean section to non-consanguineous parents and had birth weight of 3 kg. Developmental history was normal. She received immunization as per universal immunization programme. On examination, she was sick looking with respiratory distress. Her heart rate was 152/min, respiratory rate was 62/min, oxygen saturation was 95% at room air. She had left convergent squint with webbing of neck (Figure 1). She had intercostal and subcostal retractions with bilateral crepitations on auscultation. Chest X-ray showed bilateral patchy infiltrates suggesting bronchopneumonia. Complete blood counts showed total white blood cell (WBC) count of 10940 cells/cumm with polymorphs 77% and lymphocytes 23%. C-reactive protein was 68.5 mgs/L. PCR for H1N1 influenza virus by throat swab was negative. Sputum was negative for acid fast bacilli (AFB) on smear and GeneXpert for mycobacterium tuberculosis (MTB) was also negative. She was treated with nasal oxygen, intravenous (IV) antibiotics (ceftriaxone, vancomycin), oral azithromycin and IV fluids to which she responded. Her immunoglobulin profile (IgG: 936mg/dl, IgE: 67 IU/ml, IgM: 123mg/dl, IgA: 43mg/dl) and nitro blue tetrazolium (NBT) assay (NBT positive cells: 96%) were normal. Karyotype is depicted in figure 2.

Figure 2. Karyotype of the patient

Figure 1. Webbing of neck

What is the diagnosis?

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