Pseudo vitamin D-deficiency rickets

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I N 1949, van Creveld and Arons 1,2 repor ted a child who had severe hypophospha temic rickets wi th hypoca lcemia and aminoac idur ia , in spite of adequa te in take of v i tamin D. A decade la te r Ca lcagno and R u b i n a repor ted a similar case and noted tha t the roen tgenograph ic findings resembled those of v i tamin D-def ic iency P r ade r and associates 4 repor ted two other cases and named this condi t ion heredi ta ry pseudo v i tamin D deficiency rickets. Large doses of v i tamin D were necessary to correct the bony and biochemical lesions. T h e lesion is also described under the diagnost ic term, hypocalcemic v i tamin Dres l s t an t r ickets? 4 A few cases which resemble pseudo vitamin D-def ic iency rickets have been observed, s, ~ but in these relat ively lower doses of v i tamin D corrected tile abnormali t ies . I t is possible tha t these cases represent a var ian t of the same disorder. More recently, Stoop and associates 7 repor ted 4 cases and described in detai l the characterist ics of this entity.