A Patient With Atypical Multiple Sulfatase Deficiency

Miskin, Chandrabhaga; Melvin, Joseph J.; Legido, Agustín; Wenger, David A.; Harasink, Sue Moyer; Khurana, Divya S.

doi:10.1016/j.pediatrneurol.2015.10.023

Cited by 6 publications

(7 citation statements)

References 14 publications

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“…While some affected individuals are microcephalic (18, 21), MSD may be also associated with macrocephaly and acquired hydrocephalus (individual 2) (18, 55, 56), thus with any concerns for impaired mental status or an acute change in neurologic status, urgent brain imaging should be considered (82). Acute changes in neurologic examination should be considered an emergency given the possibility of hydrocephalus or acute cord compression as discussed above.…”

Section: Comprehensive Care For Children With Msdmentioning

confidence: 99%

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Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement

Ahrens‐Nicklas

Schlotawa

Ballabio

et al. 2018

Molecular Genetics and Metabolism

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Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder that results in defective sulfatase post-translational modification. Sulfatases in the body are activated by a unique protein, formylglycine-generating enzyme (FGE) that is encoded by SUMF1. When FGE is absent or insufficient, all 17 known human sulfatases are affected, including the enzymes associated with metachromatic leukodystrophy (MLD), several mucopolysaccharidoses (MPS II, IIIA, IIID, IVA, VI), chondrodysplasia punctata, and X-linked ichthyosis. As such, individuals demonstrate a complex and severe clinical phenotype that has not been fully characterized to date. In this report, we describe two individuals with distinct clinical presentations of MSD. Also, we detail a comprehensive systems-based approach to the management of individuals with MSD, from the initial diagnostic evaluation to unique multisystem issues and potential management options. As there have been no natural history studies to date, the recommendations within this report are based on published studies and consensus opinion and underscore the need for future research on evidence-based outcomes to improve management of children with MSD.

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Section: Comprehensive Care For Children With Msdmentioning

confidence: 99%

“…Children with MSD have several unique ophthalmologic considerations as extrapolated from case reports on individual enzyme deficiencies (6, 18, 21). Eye manifestations of MPS disorders can include corneal clouding, retinal degeneration, optic atrophy, papilledema, and glaucoma (85).…”

Section: Comprehensive Care For Children With Msdmentioning

confidence: 99%

Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement

Ahrens‐Nicklas

Schlotawa

Ballabio

et al. 2018

Molecular Genetics and Metabolism

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“…Treatment of long chain fatty acid disorders (such as LCHAD and VLCAD deficiencies) incorporates strict avoidance of fasting, limitation of dietary fats, and supplementation of medium chain triglycerides, which bypass the metabolic block 44 . To prevent the deleterious effects of metabolic decompensation, infants may require regular high concentrations of glucose or glucose polymers during intercurrent illness 45 . Evidently, a high frequency of oral intake of fermentable carbohydrates predisposes to dental caries in the absence of exceptional preventative regimes.…”

Section: Introductionmentioning

confidence: 99%

Inborn errors of metabolism and their impact in paediatric dentistry

Hirst

Chakrapani

Mubeen

2022

J of Inher Metab Disea

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The management of paediatric patients with inborn errors of metabolism (IEM) presents an unparalleled challenge for paediatric dentists owing to the multiplex of interrelated dental manifestations and metabolic management necessitating modifications to dental care. Inborn errors of metabolism describe a largely heterogenous group of genetic disorders namely attributable to a single gene defect essential for a specific metabolic pathway. Approximately 400 disorders have been described with an overall incidence of 1 in 5000 live births worldwide. Clinical presentation is classically inconspicuous and insidious in the neonatal period with pathophysiology attributable to accumulation of toxic by‐products which interfere with normal function, or insufficient synthesis of essential compounds. This paper aims to discuss the primary oral and maxillofacial manifestations across the scope of inborn errors of metabolism, whilst also considering how metabolic treatment has the propensity to complicate dental management.

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“…MSD is inherited in an autosomal recessive pattern and results in the accumulation of mucopolysaccharides, glycosaminoglycans, and steroid sulfates . In the MSD, gene encodes limiting factors for the activity of sulfatases . Some common presentations of MSD are retardation in motor movement, deafness, seizures, coarsened face, hepatosplenomegaly, X‐linked like ichthyosis, scoliosis, and dysostosis multiplex .…”

Section: Introductionmentioning

confidence: 99%

“…1 In the MSD, gene encodes limiting factors for the activity of sulfatases. 2 Some common presentations of MSD are retardation in motor movement, deafness, seizures, coarsened face, hepatosplenomegaly, X-linked like ichthyosis, scoliosis, and dysostosis multiplex. 3 Based on age of onset and the level of severity, neonatal, modest, and mild types of MSD have been suggested.…”

Section: Introductionmentioning

confidence: 99%