Vitamin D-dependent Rickets Type II

Abstract

The work aimed to present one case with vitamin D-dependent rickets type II, treated at Nasser Hospital – in the Gaza Strip. The patient was 3 years old with a body weight of 8.5 kg and a height of 90 CM. Skin color was cyanotic, but skin moisture was dry. Body temperature was 39 C from axillary; Turgor was warm and rough. The texture of vascularity was ecchymosis. The patient was on NGT and ETT and had alopecia in their hair. His Nails color was pale but was clubbing in shape. Deformity in the head and face; his eyes are symmetrical, but he is blind with corneal opacities bilateral, about ears are symmetrical auricles and gross hearing acuity. Mouth mucous membrane was moist but had ulcers and infection; teeth were missing, and tongues cyanotic and cracked. He has dysphagia, dyspepsia and hoarseness of voice. Full range of motion of the neck. Carotid pulsation rate 160 b/min symmetrical and bounding, cervical lymph nodes are enlarged and tender. Respiratory rate 40 b/min, barrel chest and abnormal breathing pattern. The patient complained of productive cough, on percussion, lung sound was dullness, but in auscultation, bilateral wheezy; apical heart rate was 140 b/min regular and strong. His blood pressure was 130/83 mm Hg. Capillary refill was 3 seconds. Normal heart sounds. The abdomen was soft and relaxed but distended. A genitalia was normal, About range of motion was limited and flaccid motor response.M. Aker  3 years old of cons. marriage 1st cousin, the second order of birth; the chief complaint was  Rickets Type 2, which is badly responding to vit D. The Personal history of this disease was discovered when he was two months old with a history of sibling died at the age of 4 years (his sister), at birth. The patient was normal without any symptoms, and at the age of two months, he started the symptoms; 1^st one was hair loss with fragile bone. With investigation, there is Vit D deficiency, so calcium supplement and Vit D were given; at the age of one year, the condition worsened, and bones were more fragile with bowing of legs, so doctors advised increasing the dose of Vit D and calcium with calciless treatment, but the immune system suppressed, and he got a lot of chest infections, so hospital admission many times with intravenous antibiotics, sometimes he was intubated on Mechanical ventilation in pediatric (I c u ), on 2 years, he was Oxygen-dependent then later he developed Respiratory Failure, at 3 year pt. was complaining severe chest infection and was intubated on Mechanical ventilation; unfortunately the child died at the age of 3 years.