title: [Vitamin D deficiency rickets complicating Dorfman-Chanarin syndrome].
abstract: Vitamin D deficiency rickets remains a public health issue in many parts of the world. In France, this diagnosis has almost disappeared since 1992 with routine vitamin D supplementation for children. Therefore, it is more difficult for doctors to identify risk factors and early signs of this disease. In this article, we report a rickets diagnosis acquired by vitamin D deficiency in a child who presented with the onset of a genu valgum and difficulty walking at the age of 9½ years. This patient was a Comorian child followed up from his birth for Dorfman-Chanarin syndrome. Dorfman-Chanarin syndrome is a rare disease, with about 80 cases reported in the literature. It belongs to the group of neutral lipid storage diseases (NLSD) characterized especially on the skin by ichthyosis. This child presented risk factors for vitamin D deficiency (dark skin color, prolonged and exclusive breastfeeding, premature end of supplementation, and particularly severe ichthyosis) that should have alerted us to the risk of vitamin D deficiency and the need for supplementation. This case highlights the importance of vitamin D, especially if there are risk factors such as ichthyosis, and the need to remain watchful in monitoring all chronic diseases.
authors.affiliation: Service de neuropédiatrie, hôpital de la Timone-Enfants, boulevard Jean-Moulin, 13005 Marseille, France. Electronic address: coline.barraud@ap-hm.fr.
authors.forename: C
authors.initials: C
authors.lastname: Barraud
authors.affiliation: Service de neuropédiatrie, hôpital de la Timone-Enfants, boulevard Jean-Moulin, 13005 Marseille, France.
authors.forename: A
authors.initials: A
authors.lastname: Cano
authors.affiliation: Service de neuropédiatrie, hôpital de la Timone-Enfants, boulevard Jean-Moulin, 13005 Marseille, France.
authors.forename: C
authors.initials: C
authors.lastname: Boulay
authors.affiliation: Service de neuropédiatrie, hôpital de la Timone-Enfants, boulevard Jean-Moulin, 13005 Marseille, France.
authors.forename: M
authors.initials: M
authors.lastname: Milh
authors.affiliation: Service de chirurgie orthopédique, hôpital de la Timone-Enfants, boulevard Jean-Moulin, 13005 Marseille, France.
authors.forename: G
authors.initials: G
authors.lastname: Bollini
authors.affiliation: Service de neuropédiatrie, hôpital de la Timone-Enfants, boulevard Jean-Moulin, 13005 Marseille, France.
authors.forename: B
authors.initials: B
authors.lastname: Chabrol
mesh_terms: D002648:Child; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000150:complications*; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications*; D008297:Male; D009135:Muscular Diseases / Q000150:complications*; D012279:Rickets / Q000209:etiology*; D014808:Vitamin D Deficiency / Q000209:etiology*