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 |
▪IH: Infancy (before 1 year old) ▪IS: between 10 and 20 years of age ▪IH-IS: between 3 and 8 years of age |
▪IH: Death in childhood. ▪IS: Normal lifespan. ▪IH/IS: Death in early adulthood | ▪Autosomal recessive |
▪Stature ranges from extremely short after 1 year of age to short ▪Skeletal abnormalities range from severe in IH to stiff joints in IS ▪Very coarse to moderately coarse facial features ▪Corneal opacities |
▪IH: Severe mental retardation ▪IS: Normal intelligence ▪IH/IS: Normal intelligence | ▪Heparan sulfate and <70% dermatan sulfate |
|
MPS II (Hunter Syndrome) | ▪Severe disease: 1 to 2 years of age |
▪Severe disease: death before 15 years of age ▪Attenuated disease: survival into adulthood | ▪X-linked recessive |
▪Stature ranges from moderately short stature after 1 year of age to short ▪Marked skeletal abnormalities in severe disease ▪Coarse facial features ▪Absence of corneal opacities ▪Pebbly ivory skin lesions in some patients |
▪Severe disease: marked mental retardation after 1 year of age ▪Attenuated disease: normal intelligence | ▪Heparan sulfate and <50% dermatan sulfate |
|
MPS III (Sanfilippo A, B, C, and D syndrome) | ▪4 to 6 years of age | ▪Death in puberty is common | ▪Autosomal recessive |
▪Normal stature ▪Mild skeletal abnormalities ▪Mild coarseness of facial features ▪Absence of corneal opacities |
▪Profound mental deterioration, especially after 3 years of age ▪Hyperactivity | ▪Heparan sulfate |
|
MPS IV (Morquio syndrome A and B) | ▪1 to 3 years of age | ▪Survival ranges from childhood to middle age | ▪Autosomal recessive |
▪Extreme short stature after 1 year of age ▪Skeletal abnormalities are distinctive ▪Hypoplasia of tooth enamel ▪Mid-face hypoplasia and mandibular protrusion ▪Corneal opacities | ▪Normal |
(A) Keratan sulfate and chondroitin 6-sulfate (B) Keratan sulfate |
|
MPS VII (Sly syndrome) | ▪Neonatal to childhood | ▪Survival ranges from infancy to at least the fourth decade of life | ▪Autosomal recessive |
▪Skeletal abnormalities ▪Hepatosplenomegaly ▪Hydrops fetalis is a common form of presentation | ▪Intellectual deficits |
▪Dermatan sulfate ▪Heparan sulphate ▪Chondroitin 4-, 6-sulfates |
| MPS IX | ▪Adolescence | ▪Not known, as only 1 adolescent patient identified in literature | ▪Autosomal recessive |
▪Short stature ▪Periarticular masses in soft tissue | ▪Normal | ▪Hyaluronan |
| Multiple Sulfatase Deficiency (also called mucosulfatidosis or Austin syndrome) | ▪By 2 years for severe diseases | ▪Death during the first decade of life | ▪Autosomal recessive |
▪Skeletal abnormalities usually are severe ▪Hepatosplenomegaly ▪Loss of retinal pigment, grey maculae, and optic atrophy ▪Neurodegenerative signs with demyelination lead to a vegetative state and death ▪Ichthyosis | ▪Neuro-degenerative disease leads to a vegetative state | ▪Glycosaminoglycans (GAG) |
