Introduction: Rickets, which occurs
during bone growth development, is a result of severe vitamin D deficiency,
that has autosolamal subtypes, i.e. A- type 1- (VDDR-I), due to a defect of the
1-alfa-hydroxilase enzyme and B) type -2(VDDR-II), due to a mutation in the
intracellular vitamin –D receptor (VDR), associated with some specific symptoms
like alopecia (global head hair loss) and short stature. Diagnosis was
established based on physical examination, laboratory findings and radiological
examination. Case presentation: We report here 3 cases with vitamin
D-dependent rickets, type-II, all members of the same family (2 sisters, aged
1.5, 5 years and their 5 year-old cousin) who had referred to the endocrine and
metabolic center in the Imam–Reza hospital in Mashhad, presenting with limb
deformities, wide wrist, seizures, disorder in dental growth, alopecia, and
several bone fractures. Despite various treatments, they had not recovered.
However it was notable that after receiving growth hormone therapy for growth
failure, rickets symptoms improved dramatically in clinical, laboratory, and
radiological parameters. Using growth hormone therapy to improve height, we
observed improvements in the underlying disease of siblings with VDDR-type-II. Conclusion:
Growth hormone therapy may be advisable to treat VDDR-type II symptoms. |