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      Nutritional rickets presenting with developmental regression: a rare presentation of rickets

      case-report

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          Abstract

          Rickets is a disorder of defective mineralisation of the growth plate. Vitamin D deficiency remains the leading cause of nutritional rickets worldwide.

          We present the case of a 3.5-year-old breastfed boy who presented with dental abscess when a history of developmental regression was noted. Clinical assessment revealed hypotonia, poor growth and stunting. Biochemistry identified hypocalcaemia (1.63mmol/L, [normal range (NR) 2.2-2.7mmol/L]), severe vitamin D deficiency (25hydroxyvitamin D 5.3nmol/L, [NR > 50nmol/L]) with secondary hyperparathyroidism (Parathormone 159pmol/L, [NR 1.6-7.5pmol/L]) and rickets on radiographs. Growth failure screening suggested hypopituitarism with central hypothyroidism and low IGF1 at baseline, however, dynamic tests confirmed normal axis. Management included nasogastric nutritional rehabilitation, cholecalciferol and calcium supplementation and physiotherapy. A good biochemical response in all parameters was observed within 3 weeks and reversal of developmental regression by 3 months from treatment. Developmental regression as a presentation of nutritional rickets is rare and requires a high index of suspicion.

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          Global Consensus Recommendations on Prevention and Management of Nutritional Rickets

          Craig F Munns, Nick Shaw, Mairead Kiely … (2016)
          Vitamin D and calcium deficiencies are common worldwide, causing nutritional rickets and osteomalacia, which have a major impact on health, growth, and development of infants, children, and adolescents; the consequences can be lethal or can last into adulthood. The goals of this evidence-based consensus document are to provide health care professionals with guidance for prevention, diagnosis, and management of nutritional rickets and to provide policy makers with a framework to work toward its eradication.
          Article 0 comments Cited 195 times – based on 0 reviews     Review now
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            Vitamin D-deficiency rickets among children in Canada.

            Isabelle Gaboury, Stanley H. Zlotkin, Naomi Ward … (2007)
            Based on regional and anecdotal reports, there is concern that vitamin D-deficiency rickets is persistent in Canada despite guidelines for its prevention. We sought to determine the incidence and clinical characteristics of vitamin D-deficiency rickets among children living in Canada. A total of 2325 Canadian pediatricians were surveyed monthly from July 1, 2002, to June 30, 2004, through the Canadian Paediatric Surveillance Program to determine the incidence, geographic distribution and clinical profiles of confirmed cases of vitamin D-deficiency rickets. We calculated incidence rates based on the number of confirmed cases over the product of the length of the study period (2 years) and the estimates of the population by age group. There were 104 confirmed cases of vitamin D- deficiency rickets during the study period. The overall annual incidence rate was 2.9 cases per 100,000. The incidence rates were highest among children residing in the the north (Yukon Territory, Northwest Territories and Nunavut). The mean age at diagnosis was 1.4 years (standard deviation [SD] 0.9, min-max 2 weeks-6.3 years). Sixty-eight children (65%) had lived in urban areas most of their lives, and 57 (55%) of the cases were identified in Ontario. Ninety-two (89%) of the children had intermediate or darker skin. Ninety-eight (94%) had been breast-fed, and 3 children (2.9%) had been fed standard infant formula. None of the breast-fed infants had received vitamin D supplementation according to current guidelines (400 IU/d). Maternal risk factors included limited sun exposure and a lack of vitamin D from diet or supplements during pregnancy and lactation. The majority of children showed clinically important morbidity at diagnosis, including hypocalcemic seizures (20 cases, 19%). Vitamin D-deficiency rickets is persistent in Canada, particularly among children who reside in the north and among infants with darker skin who are breast-fed without appropriate vitamin D supplementation. Since there were no reported cases of breast-fed children having received regular vitamin D (400 IU/d) from birth who developed rickets, the current guidelines for rickets prevention can be effective but are not being consistently implemented. The exception appears to be infants, including those fed standard infant formula, born to mothers with a profound vitamin D deficiency, in which case the current guidelines may not be adequate to rescue infants from the vitamin D-deficient state.
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              Hypocalcaemia and vitamin D deficiency: an important, but preventable, cause of life-threatening infant heart failure.

              R Tulloh, I Sullivan, Q Mok … (2008)
              In recent large paediatric cardiomyopathy population studies from North America and Australia, vitamin D deficiency was not identified as a cause of infant heart failure. However, rickets is resurgent in developed countries. To review the prevalence of this cardiomyopathy in paediatric cardiology units of southeast England and determine the prognosis. A retrospective review from 2000 to 2006 in southeast England. Sixteen infants (6 Indian subcontinent, 10 black ethnicity) were identified: median (range) age at presentation was 5.3 months (3 weeks-8 months). All had been breast fed. Ten presented at the end of the British winter (February-May). Median shortening fraction was 10% (range 5-18%) and median left ventricular end diastolic dimension z score was 4.1 (range 3.1-7.0). Six had a cardiac arrest; three infants died. Eight were ventilated, two required mechanical circulatory support and 12 required intravenous inotropic support. Two were referred for cardiac transplantation. Median (range) of biochemical values on admission was: total calcium 1.5 (1.07-1.74) mmol/l; alkaline phosphatase 646 (340-1057) IU/l; 25-hydroxyvitamin D 18.5 (0-46) nmol/l (normal range >35) and parathyroid hormone 34.3 (8.9-102) pmol/l (normal range <6.1). The clinical markers and echocardiographic indices of all survivors have improved. The mean time from diagnosis to achieve normal fractional shortening was 12.4 months. Vitamin D deficiency and consequent hypocalcaemia are seen in association with severe and life-threatening infant heart failure. That no infant or mother was receiving the recommended vitamin supplementation highlights the need for adequate provision of vitamin D to ethnic minority populations.
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                Author and article information

                Contributors
                Suma Uday: suma.uday@nhs.net , s.uday.1@bham.ac.uk
                Journal
                Journal ID (nlm-ta): BMC Pediatr
                Journal ID (iso-abbrev): BMC Pediatr
                Title: BMC Pediatrics
                Publisher: BioMed Central (London )
                ISSN (Electronic): 1471-2431
                Publication date (Electronic): 29 June 2023
                Publication date PMC-release: 29 June 2023
                Publication date Collection: 2023
                Volume: 23
                Electronic Location Identifier: 330
                Affiliations
                [1 ]GRID grid.415246.0, ISNI 0000 0004 0399 7272, Department of Endocrinology and Diabetes, , Birmingham Women’s and Children’s Hospital, ; Steelhouse Lane, Birmingham, UK
                [2 ]GRID grid.6572.6, ISNI 0000 0004 1936 7486, Institute of Metabolism and Systems Research, , University of Birmingham, ; Edgbaston, Birmingham, UK
                Article
                Publisher ID: 4127
                DOI: 10.1186/s12887-023-04127-6
                PMC ID: 10308663
                SO-VID: eca06920-42fc-4b53-b3ac-79c7c55f67b6
                Copyright © © Crown 2023
                License:

                Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

                History
                Date received : 3 December 2022
                Date accepted : 11 June 2023
                Categories
                Subject: Case Report
                Custom metadata
                issue-copyright-statement © BioMed Central Ltd., part of Springer Nature 2023

                ScienceOpen disciplines: Pediatrics
                Keywords: rickets,vitamin d deficiency,developmental regression,hypovitaminosis d,milestones
                Data availability:
                ScienceOpen disciplines: Pediatrics
                Keywords: rickets, vitamin d deficiency, developmental regression, hypovitaminosis d, milestones

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