Metaphyseal dysplasia, Spahr type: a mimicker of rickets

Muthuvel, Balasubramaniyan; Kaur, Anupriya; Sinha, Anindita; Gopinathan, Nirmal Raj

doi:10.1136/bcr-2019-230257

Cited by 6 publications

(2 citation statements)

References 9 publications

(6 reference statements)

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“…Bones of the spine and upper extremities are often spared, but the involvement of the anterior ends of the ribs and distal ends of the radius and ulna has also been reported. [ 17 18 19 ] Sclerosis of the metaphysis may be mistaken as the healing line of rickets. Three children with metaphyseal chondrodysplasia in our cohort had genu varum, and the remaining 2 had genu valgum.…”

Section: Discussionmentioning

confidence: 99%

Etiology and Biochemical Profile of Rickets in Tertiary Care Centres in Eastern India: A Retrospective Cross-sectional Study

Bhattacharjee,

Chakraborty,

Agrawal

et al. 2024

Indian Journal of Endocrinology and Metabolism

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Introduction: We aimed to describe the clinical, biochemical and etiological profile of patients referred with a provisional diagnosis of rickets in tertiary care centres. In addition, we tried to propose a diagnostic algorithm for the evaluation of such patients. Methods: This was a retrospective cross-sectional study conducted in two tertiary care centres of West Bengal. Data of patients were retrieved between 2014 and 2021. Results: Out of 101 children, 22 had conditions simulating rickets. Renal tubular acidosis (RTA) was the most common (53.2%) etiology of rickets, followed by phosphopenic rickets (PR) (22.8%) and calcipenic rickets (CR) (17.7%). The prevalence of true nutritional rickets (NR) was only 8.9%. Children with RTA had a significantly higher prevalence of chronic ill health (69%) and polyuria (95.2%). Weight standard deviation score (SDS) and body mass index (BMI) SDS scores were significantly lower in the RTA group compared to others. Around 90.5% of children with RTA, and none in the other groups, had hypokalemia. Biochemically, hypophosphatemia and elevated alkaline phosphatase (ALP) were present in all patients with PR and CR. Compared to CR, median serum phosphate was significantly lower in the PR group. A significant difference in ALP values was noticed in patients with hypophosphatemia (815 ± 627 IU/L) compared to those without (279 ± 204 IU/L). Plasma parathyroid hormone (PTH) of 100 pg/ml seemed useful to differentiate CR from other forms. Conclusion: NR is uncommon in tertiary care centres. Children with rickets should be approached systematically with the estimation of ALP, phosphorus, creatinine, calcium, PTH and 25-hydroxy vitamin D to reach an etiological diagnosis.

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Section: Discussionmentioning

confidence: 99%

Etiology and Biochemical Profile of Rickets in Tertiary Care Centres in Eastern India: A Retrospective Cross-sectional Study

Bhattacharjee,

Chakraborty,

Agrawal

et al. 2024

Indian Journal of Endocrinology and Metabolism

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“… 19 Its clinical manifestations include the following: knock knees, mild limited elbow extension, no tenderness of the wider metaphysis and wider collarbone, mandibular protrusion, dental caries and disordered tooth arrangement. 20 A small number of children have spinal deformity and bone fragility. 17 X-ray examination shows that the long bone end is symmetrically widened and the metaphysis of the long diaphysis has a flask shape with osteosclerosis, manifestations that are often accompanied by swelling of the pubic ramus.…”

Section: Discussionmentioning

confidence: 99%

Special manifestations and treatment of rare cases of snoring with special facial features and hearing loss in children

Wu¹,

Chen

2022

J Int Med Res

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This current case report describes two rare cases of children with both hearing loss and snoring. Case 1, a 17-month-old male patient, and case 2, an 11-year-old male patient, both presented with nasal obstruction, snoring and hearing loss. Physical examinations showed obvious enlargement of the head circumference and special facial features. The two children underwent otolaryngology examinations, endoscopy, hearing tests, laboratory examinations for bone metabolism markers, cranial computed tomography, X-rays and genome-wide exon sequencing. The first case was diagnosed with craniometaphyseal dysplasia, which was relieved after giving a low-calcium diet. The second case was diagnosed with osteopathia striata with cranial sclerosis by gene sequencing. Snoring improved after medication and the speech and quality of life improved with a hearing aid. Paediatric otolaryngological physicians need to have a deeper understanding of congenital diseases involving the bones. Only by genetic testing to determine the pathogenesis can those children be given the correct treatment, which is of great importance for improving their prognosis.

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

et al. 2021

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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.

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Metaphyseal dysplasia, Spahr type: a mimicker of rickets

Cited by 6 publications

References 9 publications

Etiology and Biochemical Profile of Rickets in Tertiary Care Centres in Eastern India: A Retrospective Cross-sectional Study

Etiology and Biochemical Profile of Rickets in Tertiary Care Centres in Eastern India: A Retrospective Cross-sectional Study

Special manifestations and treatment of rare cases of snoring with special facial features and hearing loss in children

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

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