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

Sabourdy, Frédérique; Mourey, Lionel; Le Trionnaire, Emmanuelle; Bednarek, Nathalie; Caillaud, Catherine; Chaix, Yves; Delrue, Marie-Ange; Dusser, Anne; Froissart, Roseline; Garnotel, Roselyne; Guffon, Nathalie; Megarbane, André; Ogier de Baulny, Hélène; Pédespan, Jean-Michel; Pichard, Samia; Valayannopoulos, Vassili; Verloes, Alain; Levade, Thierry

doi:10.1186/s13023-015-0244-7

Orphanet Journal of Rare Diseases

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

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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ISSN: 1750-1172

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