Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion.
Growth impairment together with bone and joint involvement is common to most patients with mucopolysaccharidosis (MPS) disorders. The genetic basis for these metabolic disorders involves various enzyme deficiencies responsible for the catabolism of glycosaminoglycans (GAGs). The incomplete degradati...
| Publicado en: | European Journal of Pediatrics Vol. 178; no. 4; pp. 593 - 604 |
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| Autores principales: | , , , , |
| Formato: | Journal Article |
| Publicado: |
Springer Nature
Apr2019
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=135606144&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 135606144 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 03406199 CR1 jtl: European Journal of Pediatrics issn: 03406199 maglogo: N pubinfo: dt: Apr2019 vid: 178 iid: 4 pid: 237 pub: Springer Nature place: New York, New York artinfo: ui: 135606144 135606144 NLM30740618 10.1007/s00431-019-03330-x NLM30740618 135606144 ppf: 593 ppct: 11 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion. aug: au: Guffon, Nathalie Journeau, Pierre Brassier, Anaïs Leger, Juliane Chevallier, Bertrand affil: Reference center of Inherited Metabolic disorder, CERLYMM, Département de Pédiatrie, HCL Hopital Femme Mère Enfant, 59 Boulevard Pinel, 69677, Bron cedex, France sug: subj: Mucopolysaccharidoses Diagnosis Range of Motion Growth Disorders Metabolism Child Growth Disorders Diagnosis Weights and Measures Adolescence Mucopolysaccharidoses Physiopathology Child, Preschool Clinical Assessment Tools Ferrans and Powers Quality of Life Index Scales Short Portable Mental Status Questionnaire Child: 6-12 years Adolescent: 13-18 years Child, Preschool: 2-5 years ab: Growth impairment together with bone and joint involvement is common to most patients with mucopolysaccharidosis (MPS) disorders. The genetic basis for these metabolic disorders involves various enzyme deficiencies responsible for the catabolism of glycosaminoglycans (GAGs). The incomplete degradation and subsequent accumulation of GAGs result in progressive tissue damage throughout the body. Bone ossification is particularly affected, with the consequent onset of dysostosis multiplex which is the underlying cause of short stature. Joint manifestations, whether joint contractures (MPS I, II, VI, VII) or hyperlaxity (MPS IV), affect fine motor skills and quality of life. Subtle decreases in growth velocity can begin as early as 2-4 years of age. Pediatricians are in the front line to recognize or suspect MPS. However, given the rarity of the disorders and variable ages of symptom onset depending on disease severity, recognition and diagnostic delays remain a challenge, especially for the attenuated forms. Prompt diagnosis and treatment can prevent irreversible disease outcomes.Conclusion: We present a diagnostic algorithm based on growth velocity decline and bone and joint involvement designed to help pediatricians recognize early manifestations of attenuated forms of MPS. We illustrate the paper with examples of abnormal growth curves and subtle radiographic nuances. What is Known: • As mucopolysaccharidoses (MPSs) are rare genetic disorders infrequently seen in clinical practice, there can be a lag between symptom onset and diagnosis, especially of attenuated forms of the disease. • This highlights the need for increased disease awareness to recognize early clinical signs and subsequently initiate early treatment to improve outcomes (normal height potential) and possibly prevent or delay the development of irreversible disease manifestations. What is New: • Growth impairment co-presenting with limited range of joint motion and radiographic anomalies in children should raise suspicions of possible attenuated MPS (AMPS). • Experts present a diagnostic algorithm with detailed focus on the decline in growth velocity, delayed puberty and limitation in joint mobility seen in children with AMPS, to shorten time-to-diagnosis and treatment and potentially improve patient outcome. pubtype: Academic Journal doctype: Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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