Vitamin-Resistant Rickets Type 2 Hereditary Disorder: About a New Case

The Aim: The aim of the study is to resume the difficulties to diagnosis and to manage a rare type of rickets the vitamin-resistant type II.

Introduction: Rickets is a disease of the skeleton of growing children due to a defect in bone mineralization.

Much rarer is vitamin-resistant rickets secondary to genetic or acquired abnormalities of phosphocalcic metabolism. Pseudo-deficiency rickets type ll is a vitamin-resistant rickets due to an abnormality of the vitamin D receptor.

Report Case: This a 3 years old boy of consanguineous parents, with totally alopecia who presented an inability to walk and stand. The paraclinical signs (radiological and biological ) also the character genetic mutation put the diagnosis of vitamin-resistant rickets type II.

Discussion: Vitamin-resistant ricket type II is a rare disease, the alopecia and the normal level of plasma 25 OH vitamin D is very suggestive of the diagnosis. The management of the disease is very difficult and requires a long term multidisciplinary approach.

Conclusion: Target gene therapy and genetic counselling offer hope of cure for children who do not respond to long-term high-dose replacement therapy.