Hunter Syndrome (MPS II)

What this deck covers

Hunter Syndrome (MPS II) in fifteen clinical teaching cases with worked explanations. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong.

Diagnoses and management options tested

Across the fifteen cases you are asked to choose between options such as: Mucopolysaccharidosis type I (Hurler syndrome), Gaucher disease type 1, Mucopolysaccharidosis type II (Hunter syndrome), Mucopolysaccharidosis type III (Sanfilippo syndrome), X-linked recessive, Autosomal recessive, Autosomal dominant, X-linked dominant, Ventricular septal defect (VSD), Coarctation of the aorta, Complete heart block, Cerebral hypoxia from obstructive sleep apnoea alone, Recurrent meningitis causing neuronal loss, Autoimmune CNS inflammation, Skeletal survey for dysostosis multiplex, Brain MRI for cortical atrophy, Quantitative urine glycosaminoglycan (GAG) analysis, Echocardiogram for valve disease, Alpha-L-iduronidase enzyme activity (to confirm MPS I), IDS gene sequencing only, without enzyme testing, Urine oligosaccharide analysis, Plain chest X-ray alone, 24-hour Holter monitor, Cardiac catheterisation, Enzyme activity level reliably predicts CNS involvement, Idursulfase (Elaprase) — weekly intravenous infusion.

Clinical pearls from this deck

• A toddler boy with recurrent hernias, a hoarse voice, coarse facies, hepatomegaly and joint stiffness who is developmentally normal is Hunter syndrome until proven otherwise. The hoarse voice comes from GAG deposition in the larynx and is an under-recognised early clue.
• The pedigree is diagnostic: an affected maternal uncle, an unaffected carrier mother, and an unaffected sister. The IDS gene sits at Xq28. A carrier mother has a 50% risk of an affected son with each pregnancy, and there is no male-to-male transmission.

The fifteen worked cases in this deck, with the images and the full explanation of every option, are part of Pediatric Case Review membership. See what is included.

More from this system: all metabolic and genetic decks and question sets · pediatric reference values.