girl with albright hereditary osteodystrophy

ABSTRACT

A female patient named Amany Yosef Abd El Hamed, aged 11 years, from Kafr Soltan, El Santa [El Gharbia]. She complained of recurrent attacks of carpopedal spasm for 3 yrs and every time the patient was admitted to hospital and received IV Ca without definitive diagnosis. The history is not significant with negative consanguinity and no similar condition. Pulse was 70 B/min, temperature 37 c, RR16- cycle/min, B/P 80/50, Wt. 35 kg, and Height was 145.5 cm. Shortening of the 4th and, 5th metacarpals, and no cataract. Serum. Ca level [ionized] was low [0.66 mmol/L], serum Ph level was high [7 mg/dl], serum alkaline phosphatase was high [130 u/L], serum parathormone was high [272.9 Pg/mL], and serum Mg was normal [2.3 mg/dl]. Ca in 24 h urine was normal. Renal functions tests and arterial blood gases were normal. TSH, freeT4, and free T3 were normal. Brain CT scans showed basal ganglia calcification. The girl was diagnosed as Pseudohypoparathyroidism type I a, [Albright Hereditary Osteodystrophy [AHO]]