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Table 1 Clinical presentation of MSD patients

From: Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency

Patients 1 2 3 4 5 6 7 8 9 10
Origin France France France France France Pakistan Turkey Lebanon France France
Consanguinity - - - - - + + - - -
Antenatal manifestations (oligoamnios, IUGR) - - - - - - - +++ +++ +++
Age of onset (main symptoms) 3 years (motor delay) Birth (hernia) 12 months (psychomotor delay) 15 months (psychomotor delay) 12 months (psychomotor delay) 26 months (tremor) 3 months (hypotonia) Birth (ichthyosis) Birth (growth retardation, respiratory difficulties) Birth (hypotonia, dysmorphism, respiratory distress)
Psychomotor retardation ++ ++ +++ ++ +++ ++ +++ +++ +++ +++
Neurodegeneration Neurological symptoms + ++ ++ ++ ++ ++ ++ +++ +++ +++
Ichthyosis + + + - +++ - +++ +++ +++ ++
Dysmorphism - + - - ++ - - - - +++
Organomegaly - - - - + ND - +++ +++ ++
Skeletal changes - - - + - + - +++ +++ +++
Heart disease - - - - - - - - - ++
Corneal clouding - - - - - - - +++ - -
Retinitis pigmentosa + + - - - - + - - +++
Hydrocephalus - - - - - - - - - +++
Miscellaneous - Hernia, otitis Oculomotor apraxia, myopia, livedo Otitis, hearing loss, feeding difficulties, retinal pallor sleep disorders Agitated behaviour, serous otitis Hirsutism, hip dislocation Severe growth retardation, hearing loss, otitis, spasticity Tracheomalacia, hearing loss, hernia Cataract, retinal atrophy, respiratory difficulties Severe growth retardation, tracheomalacia, hearing loss, hernia
Ongoing psychomotor regression No From 6 years From 2.5 years No From 3.5 years From 2 years From 2 years From 2 years From 2 years ND
Age of death Alive at 12 Alive at 11 years 3 months Alive at 10 years and 6 months Alive at 6 Alive at 7 Alive at 8 years and 6 months Alive at 6 years Dead at 6 years Dead at 3 years and 9 months Dead at 3 years and 4 months
Clinical subtype [5] J LIM LIM LIM LIM LIM LIM LIS LIS NS
Disease course very slow slow slow slow slow fast fast fast very fast very fast
  1. Disease severity was estimated as described [5]. Age at onset: +++, < 2 years; ++, 2–4 years; +, > 4 years. Disease course was appreciated as follows: very slow: only mild neurological and motor involvement at 12 years old; slow: able to walk at least up to 6 years old; fast: loss of contact and/or bedridden state occurring before 7 years old; very fast: death occurring before 4 years old. Abbreviations: IUGR Intrauterine growth retardation, ND not determined, J juvenile, LIM late infantile mild, LIS late infantile severe, NS neonatal severe.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172