Rickets manifestations in a child with metaphyseal anadysplasia, report of a spontaneously resolving case.

Autor: Diaz Escagedo P; Bone and mineral Clinic, Sainte-Justine Hospital Center, Department of Pediatrics, 3175 Chemin de la Côte-Sainte-Catherine, Montreal, QC, Canada., Fiscaletti M; Bone and mineral Clinic, Sainte-Justine Hospital Center, Department of Pediatrics, 3175 Chemin de la Côte-Sainte-Catherine, Montreal, QC, Canada., Olivier P; Bone and mineral Clinic, Sainte-Justine Hospital Center, Department of Pediatrics, 3175 Chemin de la Côte-Sainte-Catherine, Montreal, QC, Canada., Hudon C; Medical Genetics Service, Sainte-Justine Hospital Center, Department of Pediatrics, 3175 Chemin de la Côte-Sainte-Catherine, Montreal, QC, Canada., Miranda V; Medical Genetics Service, Sainte-Justine Hospital Center, Department of Pediatrics, 3175 Chemin de la Côte-Sainte-Catherine, Montreal, QC, Canada., Miron MC; Radiology Department, Sainte-Justine Hospital Center, Department of Pediatrics, 3175 Chemin de la Côte-Sainte-Catherine, Montreal, QC, Canada., Campeau PM; Medical Genetics Service, Sainte-Justine Hospital Center, Department of Pediatrics, 3175 Chemin de la Côte-Sainte-Catherine, Montreal, QC, Canada. p.campeau@umontreal.ca.; Research Center, Sainte-Justine Hospital Center, 3175 Chemin de la Côte-Sainte-Catherine, Montreal, QC, Canada. p.campeau@umontreal.ca., Alos N; Bone and mineral Clinic, Sainte-Justine Hospital Center, Department of Pediatrics, 3175 Chemin de la Côte-Sainte-Catherine, Montreal, QC, Canada. nathalie.alos.hsj@ssss.gouv.qc.ca.; Research Center, Sainte-Justine Hospital Center, 3175 Chemin de la Côte-Sainte-Catherine, Montreal, QC, Canada. nathalie.alos.hsj@ssss.gouv.qc.ca.
Jazyk: angličtina
Zdroj: BMC pediatrics [BMC Pediatr] 2021 May 22; Vol. 21 (1), pp. 248. Date of Electronic Publication: 2021 May 22.
DOI: 10.1186/s12887-021-02716-x
Abstrakt: Introduction: Rickets is not an unusual diagnosis for pediatricians even currently in developed countries. Children typically present with leg bowing, enlargement of wrists, rachitic rosary (swelling of costochondral junctions) and/or waddling gait. But not every child with growth delay and enlarged metaphyses is diagnosed with rickets. Metaphyseal anadysplasia (MAD) is a disorder of variable severity with metaphyseal flaring and irregularities, without vertebral abnormalities. MAD is characterized by an early onset and a regressive course in late childhood without treatment, despite persistent short stature. Autosomal dominant or recessive variants in the matrix metalloproteinase 13 gene (MMP13) are responsible for these transient metaphyseal changes.
Case Presentation: We report a new pathogenic heterozygous variant in MMP13 (NM_002427.4: c.216G>C, p.Gln72His) in a toddler, initially thought to have rickets, and his father, with MAD phenotypes. Additionally, we review the seven reported MMP13 variants.
Conclusion: One should keep a wide differential diagnosis in cases of suspected rickets, including skeletal dysplasias which might have a regressive course.
Databáze: MEDLINE
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