Hurler Syndrome (MPS I)

What this deck covers

Hurler Syndrome (MPS I) in sixteen 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 sixteen cases you are asked to choose between options such as: Sotos syndrome, GM1 gangliosidosis, Hurler syndrome, MPS I-H (alpha-L-iduronidase deficiency), Skeletal survey to identify dysostosis multiplex, Brain MRI with and without contrast, MPS I-H (Hurler syndrome), MPS I-HS (Hurler-Scheie) — intermediate phenotype, MPS II (Hunter syndrome), MPS III-A (Sanfilippo syndrome), MPS IV-A (Morquio A), MPS III (Sanfilippo syndrome), MPS VI (Maroteaux-Lamy), Liver transplantation to reduce hepatic GAG burden, Bilateral knee replacement for joint destruction, Pancreatic enzyme supplementation for malabsorption.

Clinical pearls from this deck

• MPS I declares itself through progressive change rather than a fixed dysmorphism. Coarse facies with flat nasal bridge, thick lips, macroglossia and gingival hyperplasia appear over the first 1–2 years, alongside macrocephaly crossing centile lines and recurrent airway infection from GAG deposition in mucosa.
• The neurological course is normal development → plateau at 6–12 months → regression by 18–24 months, with untreated children peaking at a cognitive age of roughly 2–4 years. Two structural problems accompany it: communicating hydrocephalus from impaired CSF reabsorption and dural thickening, and cervical myelopathy from odontoid dysplasia.

The sixteen 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.