BMJ Case Reports 2013; doi:10.1136/bcr-2012-008266

Delayed diagnosis and treatment for around 20 years of an eminently treatable cause

  1. Rakesh Biswas1
  1. 1Department of Medicine, People's College of Medical Sciences, Bhopal, Madhya Pradesh, India
  2. 2Department of Radiology, People's College of Medical Sciences, Bhopal, Madhya Pradesh, India
  1. Correspondence to Professor Rakesh Biswas, rakesh7biswas{at}


A 28-year-old Indian man presented to our emergency room with a history of fever for 1 day followed by altered sensorium and inability to speak.

Upon examination, he had a pulse rate of 56/min, blood pressure of 60 mm  Hg systolic and temperature 95°F. The diagnosis was apparent on a quick look at the patient (figure 1A,B). He looked very small for his stated age of 28 years and appeared more like a 3–4 year old child.

Figure 1

(A,B) Coarse facial features with short stature.

There was obvious facial puffiness and coarse facial features along with coarse skin. He had large dry lips, large thick partially visible tongue and teeth were maloccluded, along with coarse and sparse scalp hair (figure 2).

Figure 2

Maloccluded teeth.

Fingers and toes were short, and he had short arms and legs with broad oedematous hands (figure 3A,B). Neck was thick and there was no palpable goitre or thyroid nodules. Abdomen was protuberant with small umbilical hernia (figure 4). There was no organomegaly, and bowel sounds were absent.

Figure 3

(A,B) Short legs with broad oedematous hands.

Figure 4

Protuberant abdomen with small umbilical hernia.

Patient was stuporous responding …

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