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Case 118

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A 26-month old male patient from Jequitinhonha (MG, Brazil) was admitted with a history of convulsions and repeated respiratory infections. He was exclusively breast-fed until the age of six months and ever since his nutrition is based in fruits, legumes and leafy vegetables. Physical examination findings include hypoactivity, muscular hypotonia, costochondral swelling and double malleoli sign. He showed no muscular and joint pain during examination.

Based on the clinical history and on the images provided, which is the most probable diagnosis?

a) Rickets

25%

b) Scurvy

25%

c) Marasmus

25%

d) Osteogenesis imperfecta

25%
   

Comments

- Rickets is a disorder characterized by deficient bone mineralization in the long bones and its predominant causes are the deficiency of vitamin D and calcium.

- Nutritional rickets most commonly affects patients aged between four and twenty-four months.

- Rickets stage I is marked by hypocalcaemia and hypophosphatemia, causing convulsions and tetany. The clinical examination may be normal or reveal craniotabes.

- Stage II is represented by repeated respiratory infections and musculoskeletal deformities, for example the costochondral swelling (“rickets rosary”), can be noticed. At stage III bone abnormalities become more evident. 

- Treatment consists in the daily use of 1.000 to 4.000 UI of vitamin D until clinical and radiological resolution, which takes approximately 4 to 8 weeks.

References

1. Leão E, Starling ALP, Norton RC. Raquitismos. In: Leão E, Corrêa EJ, Mota JAC, Vianna MB, Vasconcellos MC. Pediatria Ambulatorial. 5th ed. Belo Horizonte: Coopmed, 2013, Pp 483-488.

2. Leão E, Starling ALP, Norton RC. Vitaminas e minerais. In: Leão E, Corrêa EJ, Mota JAC, Vianna MB, Vasconcellos MC. Pediatria Ambulatorial. 5th ed. Belo Horizonte: Coopmed, 2013, Pp 489-507.

3. Pai B. Understanding rickets. Paediatrics and Child Health. 2011; 2:137-143.

4. Whyte M.P. Osteogenesis Imperfecta. In: Favus MJ. Primer on the metabolic bone diseases and disorders of mineral metabolism. 4th ed. Philadelphia: Lippincott Williams & Wilkins, 1999, Pp 386-89.

5. Rauch F, Glorieux FH. Osteogenesis Imperfecta. Lancet. 2004; 363: 1377-85.

Authors

Larissa Figueiredo Vieira, 4th year medical student at UFMG School of Medicine

E-mail: larissafvieira31[at]hotmail.com

Marina Bernardes Leão, 4th year medical student at UFMG School of Medicine

E-mail: marinableao[at]hotmail.com

Pamela de Souza Haueisen Barbosa, 4th year medical student at UFMG School of Medicine

E-mail: pam_haueisen[at]yahoo.com.br

Supervisors

Dr. Sarah de Lima e Silva, Pediatrics resident at Hospital das Clínicas of UFMG

E-mail: sarinha_silva[at]yahoo.com.br

Professor Paulo Pimenta de Figueiredo Filho, member of the Department of Pediatrics (UFMG School of Medicine)

E-mail: paulo.figueiredo[at]unimedbh.com.br

Reviewers

Fernando Henrique Teodoro Lemos, Glauber Coutinho Eliazar and Professor Viviane Parisotto

Translated by

Marina Bernardes Leão, 4th year medical student at UFMG School of Medicine

Commentics

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