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).