Table 2 Differential Diagnosis of MPS VI.
From: Mucopolysaccharidosis VI
Disease | Typical Age at Diagnosis | Typical Life Expectancy | Inheritance | Common Differentiating Physical Features | Intelligence and Behaviour | Excess GAG excreted in urine |
|---|---|---|---|---|---|---|
MPS I Hurler (IH), Scheie (IS), and Hurler-Scheie (IH-IS) syndrome | â–ªIH: Infancy (before 1 year old) â–ªIS: between 10 and 20 years of age â–ªIH-IS: between 3 and 8 years of age | â–ªIH: Death in childhood. â–ªIS: Normal lifespan. â–ªIH/IS: Death in early adulthood | â–ªAutosomal recessive | â–ªStature ranges from extremely short after 1 year of age to short â–ªSkeletal abnormalities range from severe in IH to stiff joints in IS â–ªVery coarse to moderately coarse facial features â–ªCorneal opacities | â–ªIH: Severe mental retardation â–ªIS: Normal intelligence â–ªIH/IS: Normal intelligence | â–ªHeparan sulfate and <70% dermatan sulfate |
MPS II (Hunter Syndrome) | â–ªSevere disease: 1 to 2 years of age | â–ªSevere disease: death before 15 years of age â–ªAttenuated disease: survival into adulthood | â–ªX-linked recessive | â–ªStature ranges from moderately short stature after 1 year of age to short â–ªMarked skeletal abnormalities in severe disease â–ªCoarse facial features â–ªAbsence of corneal opacities â–ªPebbly ivory skin lesions in some patients | â–ªSevere disease: marked mental retardation after 1 year of age â–ªAttenuated disease: normal intelligence | â–ªHeparan sulfate and <50% dermatan sulfate |
MPS III (Sanfilippo A, B, C, and D syndrome) | â–ª4 to 6 years of age | â–ªDeath in puberty is common | â–ªAutosomal recessive | â–ªNormal stature â–ªMild skeletal abnormalities â–ªMild coarseness of facial features â–ªAbsence of corneal opacities | â–ªProfound mental deterioration, especially after 3 years of age â–ªHyperactivity | â–ªHeparan sulfate |
MPS IV (Morquio syndrome A and B) | â–ª1 to 3 years of age | â–ªSurvival ranges from childhood to middle age | â–ªAutosomal recessive | â–ªExtreme short stature after 1 year of age â–ªSkeletal abnormalities are distinctive â–ªHypoplasia of tooth enamel â–ªMid-face hypoplasia and mandibular protrusion â–ªCorneal opacities | â–ªNormal | (A) Keratan sulfate and chondroitin 6-sulfate (B) Keratan sulfate |
MPS VII (Sly syndrome) | â–ªNeonatal to childhood | â–ªSurvival ranges from infancy to at least the fourth decade of life | â–ªAutosomal recessive | â–ªSkeletal abnormalities â–ªHepatosplenomegaly â–ªHydrops fetalis is a common form of presentation | â–ªIntellectual deficits | â–ªDermatan sulfate â–ªHeparan sulphate â–ªChondroitin 4-, 6-sulfates |
MPS IX | â–ªAdolescence | â–ªNot known, as only 1 adolescent patient identified in literature | â–ªAutosomal recessive | â–ªShort stature â–ªPeriarticular masses in soft tissue | â–ªNormal | â–ªHyaluronan |
Multiple Sulfatase Deficiency (also called mucosulfatidosis or Austin syndrome) | â–ªBy 2 years for severe diseases | â–ªDeath during the first decade of life | â–ªAutosomal recessive | â–ªSkeletal abnormalities usually are severe â–ªHepatosplenomegaly â–ªLoss of retinal pigment, grey maculae, and optic atrophy â–ªNeurodegenerative signs with demyelination lead to a vegetative state and death â–ªIchthyosis | â–ªNeuro-degenerative disease leads to a vegetative state | â–ªGlycosaminoglycans (GAG) |