Case presentation:
An 11-year-old South Asian boy was born to healthy, non-consanguineous parents as their middle child who presented to the pediatric in-patient department with lethargy, poor feeding of two months duration, and respiratory distress of two days. On inquiry, the patient had a history of difficulty swallowing both liquid and solid foods developed over two months, leading to severe dehydration. According to the parent’s statement, they noticed a delay in his developmental milestones for the first time when he could not sit properly even at the age of 9 months. Afterward, a history of repeated respiratory infections was mentioned, although he never required any admission into hospitals for this. The parents also complained of the child’s disturbed sleep pattern and agitated behavior. He was unable to communicate verbally, and so never attended any school. However, the patients’ attendants mentioned that before this episode of his hospitalization, he used to have a good appetite and could sit and walk some distance independently.
Nevertheless, he did not develop any bowel or bladder control to date. There was no significant family history, and his siblings were affected. The patient had no history of convulsion, loss of consciousness, bleeding manifestation, jaundice, vomiting, constipation, or diarrhea.
There was a manifestation of growth retardation and coarse facial features [Figure 1(a)] . The patient had an occipitofrontal circumference (OFC) of 58 centimeters, frontal bossing, thick eyebrows, depressed nasal bridge, broad lip, malocclusion of teeth[Figure 1(a)] , oral ulcer, short neck, and tiny stubby fingers [Figure 1(c,d)] . No clouding of the cornea was observed. Expert opinion from the ophthalmology department was taken, and no abnormality was detected in the cornea, fundus, or lens.
The patient had hepatomegaly, 6 cm measuring from the subcostal margin in the right midclavicular line with a palpable spleen and an umbilical hernia [Figure 1(b)] . Palpatory and auscultatory findings of bronchopneumonia were also present.
A chest X-ray revealed spatulated ribs (tapering of the posterior end of the rib) regarding the imaging factors. The right dome of the diaphragm was 4cm higher than the left [Figure 2(a)] . Hand wrist radiograph showed proximal tapering of metacarpal bones (bullet shape) and fusion of interphalangeal joints [Figure 2(b)].  The clinical aspects of this presenting case are summarized in Table 1.
Investigations after his admission to the hospital manifested severe hypernatremia (168 mEq/L) with hyperchloremia (132 mEq/L). Complete blood count, Thyroid-stimulating hormone, and Ft4 were within normal range. Ultrasonography of the whole abdomen reported no abnormality, and kidney and liver function were normal. Due to the financial constraints and lack of testing facility, no urinalysis and echocardiography were done. The clinical evaluation and radiological findings made a probable diagnosis of Mucopolysaccharidosis II (Hunter Syndrome).