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The Return of Congenital Rickets, Are We Missing Occult Cases?

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Abstract

Congenital rickets is the term given to fetus born with clinical features of rickets, but those born with biochemical evidence of rickets without obvious clinical features still can be considered occult congenital rickets. Some of the affected babies with this disease have the intrauterine rachitic environment, but a calcium trans-placental pump prevents the fetus from having clinical features of rickets. They may present with hypocalcemia few days after birth or later with more florid features of rickets. Congenital rickets cases born with florid features reported over the last 40 years are few and can be divided into two groups. The first due to severe maternal osteomalacia in which their bones were so decalcified to have enough calcium to be pumped to their fetus. Another group in which newborn babies were hypocalcemic due to other maternal diseases as malabsorption, celiac disease, pre-eclampsia, and prematurity. All inherited rickets cases per se, or as part of other syndromes can be considered congenital rickets. Most cases seen in our region are due to maternal vitamin D deficiency with symptoms becoming obvious when the infants are breastfed, or may present with hypocalcemic convulsions or craniotabes. This is a review of congenital rickets with the aim of shedding light on this potentially acute disease that needs more attention and awareness in the neonatal period to avoid rare serious complications as cardiomyopathy or myelofibrosis and the complications of hypocalcemic convulsions. Congenital rickets cases seen simulate a tip of an ice-burg and its prevention is an important issue, especially with the tremendous urbanization with tall buildings living in sun-deprived flats as the commonest type of residence leading to the increasing incidence of maternal osteomalacia and rickets.

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References

  1. Elidrissy ATH, Sedrani S, Lawson DEM (1984) Vitamin D deficiency in mothers of rachitic infants. Calcif Tissue Int 36:266–268

    Article  CAS  PubMed  Google Scholar 

  2. Serinius F, Elidrissy ATH, Dandona P (1984) Vitamin D nutrition in women at term, and in newly born babies in Saudi Arabia. J Clin Pathol 37:444–447

    Article  Google Scholar 

  3. Fida NM (2003) Assessment of nutritional rickets in Western Saudi Arabia. Saudi Med J 24(4):337–340

    PubMed  Google Scholar 

  4. Al-Atawi MS, Al-Alwan IA, Al-Mutair AN, Tamim HM, Al-Jurayyan NA (2009) Epidemiology of nutritional rickets in children. Saudi J Kidney Dis Transpl 20(2):260–265

    CAS  PubMed  Google Scholar 

  5. Al-Mustafa ZH, Al-Madan M, Al-Majid HJ, Al-Muslim S, Al-Ateeq S (2007) Al-Ali AK vitamin D deficiency and rickets in the Eastern Province of Saudi Arabia. Ann Trop Paediatr 27(1):63–67

    Article  PubMed  Google Scholar 

  6. Elsammak MY, Al-Wosaibi AA, Al-Howeish A, Alsaeed J (2010) Vitamin D deficiency in Saudi Arabs. Horm Metab Res 42(5):364–368

    Article  CAS  PubMed  Google Scholar 

  7. Hatun Ş, Ozkan B (2011) Vitamin D deficiency and prevention: Turkish experience. Acta Paediatr 100(9):1195–1199

    Article  PubMed  Google Scholar 

  8. Biswas AC, Molla MA, Ljemba JC, Moslem KA (2003) Nutritional rickets revisited. Ann Saudi Med 23(5):328–333

    PubMed  Google Scholar 

  9. Railton TC (1894) Remarks on a case of congenital rickets. Br Med J 16(1):1299–3000

    Article  Google Scholar 

  10. Maxwell JP (1930) Further studies on osteomalacia. Proc R Soc Med 23(5):639–652

    CAS  PubMed  PubMed Central  Google Scholar 

  11. Maxwell JP (1935) Further studies in adult rickets (osteomalacia) and fetal rickets. Proc Roy. Soc Med 28:265

    PubMed Central  Google Scholar 

  12. Maxwell JP, Pi HT, Lin HAC, Kuo CC (1938) Further studies in adult rickets (osteomalacia) and fetal rickets. Proc R Soc Med 32:287

    Google Scholar 

  13. Terrafranca RJ, Zellis A (1953) A case of congenital rickets. Radiology 60:192–197

    Article  CAS  PubMed  Google Scholar 

  14. Sulaiman RA, Sharratt CL, Lee PW, Skinner A, Griffiths MJ, Webster C, Ford C, Anderson J, Gama R (2010) Ethnic differences in umbilical cord blood vitamin D and parathyroid hormone South Asians compared to Whites born in the UK. Martin J Fetal Neonatal Med 23(11):1315–1317

    Article  Google Scholar 

  15. Mahon P, Harvey N, Crozier S, Inskip H, Robinson S, Arden N, Swaminathan R, Cooper C, Godfrey K (2010) SWS Study Group, Low maternal vitamin D status and fetal bone development: cohort study. J Bone Miner Res 25(1):14–19

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  16. Steichen JJ, Koo WW (1992) Mineral nutrition and bone mineralization in full-term infants. Monatsschr Kinderheilkd 140(9):21–27

    Google Scholar 

  17. Kovacs CS (2012) The role of vitamin D in pregnancy and lactation: insights from animal models and clinical studies. Annu Rev Nutr 21(32):97–123

    Article  Google Scholar 

  18. Care AD (1989) Development of endocrine pathways in the regulation of calcium homeostasis. Baillieres Clin Endocrinol Metab 3(3):671–688

    Article  CAS  PubMed  Google Scholar 

  19. Barrett H, McElduff A (2010) Vitamin D and pregnancy: an old problem revisited. Best Pract Res Clin Endocrinol Metab 24(4):527–539

    Article  CAS  PubMed  Google Scholar 

  20. Tobias JH (2004) Cooper C.PTH/PTHrP activity and the programming of skeletal development in utero. J Bone Miner Res 19(2):177–182

    Article  CAS  PubMed  Google Scholar 

  21. Sann L, David L, Frederich A, Bovier-Lapierre M, Bourgeois J, Romand-Monier M, Bethenod M (1977) Congenital rickets. Study of the evolution of secondary hyperparathyroidism. Acta Paediatr 66(3):323–327

    Article  CAS  Google Scholar 

  22. Ford JA, Davidson DC, McIntosh WB, Fyf WM, Dunnigan MG (1973) Neonatal rickets in Asian immigrant population. Br Med J. 28(5873):211–222

    Article  Google Scholar 

  23. Moncrieff MW, Lunt HR, Arthur LJ (1973) Nutritional rickets at puberty. Arch. 48(3):221–224

    CAS  Google Scholar 

  24. Liu D (1991) Pathological and X-ray study of bony specimens of rickets from 124 fetal and infantile autopsies. Zhonghua Yi Xue Za Zhi 71(7):385–387

    CAS  PubMed  Google Scholar 

  25. Kirk J (1982) Congenital rickets-a case report. Aust Paediatr J 18(4):291–293

    CAS  PubMed  Google Scholar 

  26. Teotia M, Teotia SP, Nath M (1995) Metabolic studies in congenital vitamin D deficiency rickets. Indian J Pediatr 62(1):55–61

    Article  CAS  PubMed  Google Scholar 

  27. Blond MH, Gold F, Pierre F, Berger C, Guerois M, Queru MS, Ramponi N (1997) Nutritional fetal rickets. A case report. J Gynecol Obstet Biol Report (Paris) 26(8):834–846

    CAS  Google Scholar 

  28. Innes AM, Seshia MM, Prasad C, Al Saif S, Friesen FR, Chudley AE, Reed M, Dilling LA, Haworth JC, Greenberg CR (2002) Congenital rickets caused by maternal vitamin D deficiency. Paediatr Child Health 7(7):455–458

    PubMed  PubMed Central  Google Scholar 

  29. Maiyegun SO, Malek AH, Devarajan LV, Dahniya MH (2002) Severe congenital rickets secondary to maternal hypovitaminosis D: a case report. Ann Trop Paediatr 22(2):191–195

    Article  PubMed  Google Scholar 

  30. Mohapatra A, Sankaranarayanan K, Kadam SS, Binoy S, Kanbur WA, Mondkar JA (2003) Congenital rickets. J Trop Pediatr 49(2):126–127

    Article  PubMed  Google Scholar 

  31. Anatoliotaki M, Tsilimigaki A, Tsekoura T, Schinaki A, Stefanaki S, Nicolaido P (2003) Congenital rickets due to maternal vitamin D deficiency in a sunny island of Greece. Acta Paediatr 92(3):389–391

    Article  CAS  PubMed  Google Scholar 

  32. Shenoy S, Swift P, Cody D, Iqbal J (2005) Maternal vitamin D deficiency, refractory neonatal hypocalcemia, and nutritional rickets. Arch Dis Child 90(4):437–438

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  33. Orbak Z, Karacan M, Doneray H, Karakelleoglu C (2007) Congenital rickets presenting with hypocalcaemic seizures. West Indian Med J 56(4):364–367

    CAS  PubMed  Google Scholar 

  34. Erdeve O, Atasay B, Arsan S, Siklar Z, Ocal G, Berberoğlu M (2007) Hypocalcaemic seizure due to congenital rickets in the first day of life. Turk J Pediatr 49(3):301–303

    PubMed  Google Scholar 

  35. Mosalli R, Yasser E, Ali AM, Al Harbi S (2010) Congenital vitamin D deficiency: a rare etiology of an acute life threatening event in early infancy. Saudi J Kidney Dis Transpl 21(3):511–514

    PubMed  Google Scholar 

  36. Salama MM, El-Sakka AS (2010) Hypocalcaemic seizures in breastfed infants with rickets secondary to severe maternal vitamin D deficiency. Pak J Biol Sci 13(9):437–442

    Article  CAS  PubMed  Google Scholar 

  37. Karabel D, Karabel M, Yilmaz AE, Tas T, Karayel M (2012) An uncommon cause of hypocalcaemic convulsion: congenital rickets. Case report. Arch Argent Pediatr 110(6):e123–e125

    Article  PubMed  Google Scholar 

  38. Tiwari S, KumaIndianr R, Singla S, Dudeja A, Nangia S, Saili A (2014) Congenital rickets presenting as refractory respiratory distress at birth. Indian J Pediatr 81(8):800–802

    Article  PubMed  Google Scholar 

  39. Elidrissy ATH (2013) Maternal vitamin D triggering rickets in their breastfeeding infants a current study and literature review. J Res Nurs Midwifery 2(2):30–39

    Google Scholar 

  40. Begum R, Coutinho ML, Dormandy TL, Yudkin S (1968) Maternal malabsorption presenting as congenital rickets. Lancet 1(7551):1048–1052

    Article  CAS  PubMed  Google Scholar 

  41. Soler-Bel J, Veganzones I, Navarro A, Ramos F, Serra-Buxeda E, Ferreres JC (2011) Fatal rickets in the fetus and undiagnosed maternal celiac disease. Gastroenterol Hepatol 34(10):678–682

    Article  PubMed  Google Scholar 

  42. Levin TL, States L, Greig A, Goldman HS (1992) Maternal renal insufficiency: a cause of congenital rickets and secondary hyperparathyroidism. Pediatr Radiol 22(4):315–316

    Article  CAS  PubMed  Google Scholar 

  43. Al-Senan K, Al-Alaiyan S, Al-Abbad A, Le Quesne G (2001) Congenital rickets secondary to untreated maternal renal failure. Failure Perinatol 21(7):473–475

    Article  CAS  Google Scholar 

  44. Wang LY, Hung HY, Hsu CH, Shih SL, Lee YJ (1997) Congenital rickets-a patient report. J Pediatr Endocrinol Metab 10(4):437–444

    CAS  PubMed  Google Scholar 

  45. Gradus D, Le Roith D, Karplus M, Zmora E, Grief M, Bar ZJ (1981) Congenital hyperparathyroidism and rickets: secondary to maternal hypoparathyroidism and vitamin D deficiency. Isr J Med Sci 17(8):705–708

    CAS  PubMed  Google Scholar 

  46. Demirel N, Aydin M, Zenciroglu A, Okumus N, Cetinkaya S, Yildiz YT, Ipek MS (2009) Hyperparathyroidism secondary to maternal hypoparathyroidism and vitamin D deficiency: an uncommon cause of neonatal respiratory distress. Ann Trop Paediatr 29(2):149–154

    Article  CAS  PubMed  Google Scholar 

  47. Marcombes F, Cheron G, Garabedian M, Fékété CN, Chomette G, Lenoir G, Royer P (1986) Congenital hyperparathyroidism. 3 Cases. Ann Med Interne (Paris) 137(5):401–405

    CAS  Google Scholar 

  48. Starha J, Fedora M, Stejskal J (1992) Hypophosphatasia-one of the causes of congenital rickets. [Article in Czech]. Cesk Pediatr 47(5):298–300

    CAS  PubMed  Google Scholar 

  49. Terheggen HG, Wassermann A (1984) Congenital Hypophosphatasia. Monatsschr Kinderheilkd 132(7):512–522

    CAS  PubMed  Google Scholar 

  50. Colombo ML, Dogliani P, Ricci BM, Magnetti L, Buschini MP, Guala A, Lopez Bell G (1986) Hypophosphatasemia rickets. Contribution of a case of the neonatal form. Minerva Pediatr 38(19):861–866

    CAS  PubMed  Google Scholar 

  51. Vintzileos AM, Campbell WA, Soberman SM, Nochimson DJ (1985) Fetal atrial flutter and X-linked dominant vitamin D-resistant rickets. Obstet Gynecol 65(3):39S–44S

    CAS  PubMed  Google Scholar 

  52. Malloy PJ, Feldman D (2011) The role of vitamin D receptor mutations in the development of alopecia. Mol Cell Endocrinol 347(1–2):90–96

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  53. Sibert JR, Moffat WM (1973) Hereditary pseudo vitamin D deficiency rickets in a Pakistani infant. Arch Dis Child 48(10):814–816

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  54. Coimbra AV, Filardi S, Fernandes SR, Marques-Neto JF, Samara AM (2000) Weismann-Netter-Stuhl syndrome: first Brazilian case reports. Joint Bone Spine 67(6):539–543

    Article  CAS  PubMed  Google Scholar 

  55. Wendel U, Ruitenbeek W, Bent ZL, Mlage HA, Sengers RC, Trijbels JM (1995) Neonatal De Toni-Debré-Fanconi syndrome due to a defect in complex III of the respiratory chain. Eur J Pediatr 154(11):915–918

    Article  CAS  PubMed  Google Scholar 

  56. Kozlowski K, Morris L (1991) Shwachman syndrome: unusual presentation as congenital rickets and asphyxiating thoracic dystrophy. RoFo 154(3):344–346

    Article  CAS  PubMed  Google Scholar 

  57. Campbell DE, Fleischman AR (1988) Rickets of prematurity: controversies in causation and prevention. Clin Perinatol 15(4):879–890

    CAS  PubMed  Google Scholar 

  58. Zeidan S, Bamford M (1984) Congenital rickets with maternal pre-eclampsia. R Soc Med 77(5):426–427

    CAS  Google Scholar 

  59. Macmahon P, Blair M, Kovar I (1989) Hypothyroidism and unusual rickets in a very preterm infant. Postgrad Med J 65(763):312–315

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  60. Elidrissy ATH (1986) Nutritional status of children with rickets in riyadh. Ann Saudi Med 6:101–110

    Google Scholar 

  61. Elidrissy ATH, Sandokj AM, Al-Magamsi MSF, Al-Hawsawi ZM, Al-Hujaili AS, Babiker NH, YousifAM AM (2012) Nutritional rickets in Almadinah Almunawwarah: presentation and associated factors. J Taibah Univ Med Sci 7(1):35–40

    Google Scholar 

  62. Hollis BW, Pittard WB, Reinhardt TA (1986) Relationships among Vitamin D, 25-hydroxyvitamin D, and vitamin D-binding protein concentrations in the plasma and milk of human subjects. JCEM 62:41–44

    CAS  PubMed  Google Scholar 

  63. Hollis BW, Wagner CL, Howard CR, Ebeling M, Shary JR, Smith PG, Taylor SN, Morella K, Lawrence RA, Hulsey TC (2015) Maternal versus infant vitamin D supplementation during lactation: a randomized controlled trial. Pediatrics. 136(4):625–634

    Article  PubMed  Google Scholar 

  64. Santos R, Neves S, Gomes C, Neves F, Correia AJ (2009) Rickets vitamin-D-dependent type2. Acta Med Port 22(6):861–866

    PubMed  Google Scholar 

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Acknowledgments

Dr. Kkhalid Khoshhal for reading the manuscript and for helpful comments and daughter Aminah Elidrissy for her secretarial help.

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  1. College of Medicine, University of Science and Technology, Omdurman, Sudan

    Abdelwahab T. H. Elidrissy

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  1. Abdelwahab T. H. Elidrissy
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Correspondence to Abdelwahab T. H. Elidrissy.

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Abdelwahab T. H. Elidrissy declares there is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported.

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Elidrissy, A.T.H. The Return of Congenital Rickets, Are We Missing Occult Cases?. Calcif Tissue Int 99, 227–236 (2016). https://doi.org/10.1007/s00223-016-0146-2

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