Multiple Sulfatase Deficiency (MSD): Review of the Literature and Case Reports of Two Siblings with Dental Caries and Trauma

Table 2

Metabolic, medical, and dental diagnoses and management of the two siblings.

Patient demographics	Metabolic diagnosis and management	Medical diagnoses and management	Dental management
11-year-old male	Multiple sulfatase deficiency (homozygous mutations c.836 C > T, p.Ala279Val in SUMF1 gene)	(i) Epilepsy	Dental diagnoses
		(ii) Recurrent chest infections	(i) Enamel hypoplasia
		(iii) Global developmental delay	(ii) Complicated fracture UL1; grade 2 mobility-3 mm intrusion UR1
		(iv) Postretinal dysfunction
		(v) Myopic astigmatism
		(vi) Ichthyosis	Dental management
		Medication	Fissure sealants: UR6 UL6 LR6 LL6
		(i) Macrogol	Root canal treatment: UR1, UL1
		(ii) Lamotrigine	Surgical repositioning: UR1
		(iii) Melatonin	Explore maxillary lip
		(iv) Salbutamol	Composite build-up: UL1 extraction: ULC (mobile)
6-year-old male	Multiple sulfatase deficiency (homozygous mutations c.836 C > T, p.Ala279Val in SUMF1 gene)	(i) Arnold–Chiari syndrome	Dental diagnoses: caries and hypoplasia Extractions: UREDCBA ULABCDE LREDC LLCDE; Fluoride varnish 22,600 ppm
		(ii) Thoracic open myelomeningocele
		(iii) Hydrocephalus
		(iv) Sensorineural hearing loss
		(v) Paraplegia
		(vi) Lumbar kyphosis
		(vii) Ichthyosis
		(viii) Bilateral talipes
		(ix) Global developmental delay
		(x) Short stature
		(xi) Recurrent chest infections
		Medications
		(i) Macrogol
		(ii) Salbutamol
		(iii) Urea cream (10%)
		(iv) Multivitamins
		(v) Nutritionally complete food supplements