Deficiency Type Rickets Associated with Precocious Puberty, Mental Retardation and Phthisis Bulbi

抄録

A 6-year-old female (at present 12-year-old) who had precocious puberty, mental retardation, phthisis bulbi and severe rickets, was presented. The parents were not relative. Her father and brother (the fifth brother out of 6 siblings) had slight mental retardation and ocular defects such as coloboma of the optic disc (father and brother), microphthalmia, cataract, and rotatory nystagmus (father). At the age of 3 years, the patient had suffered from pyelonephritis which was found not improved when she was admitted to our clinic at the age of 6 years 2 months. A deficiency type of rickets, which was not prevented by usual prophylactic amount of vitamin D 400 I. U. but cured with daily supplement of 2, 000-5, 000 I. U. of vitamin D, developed at the age of 6 years 6 months and persisted until the age of 12 years. The chemical analysis of the serum indicated constantly low level of phosphorus and elevated level of alkaline phosphatase, while it was otherwise normal. The oculo-cerebro-renal syndrome of Lowe^1-13 and McCune-Albright syndrome^14-21 were apparently different in the symptoms and laboratory findings from our patient. Chronic pyelonephritis which has a possible role in the pathogenesis of renal tubular acidosis to cause severe rickets^{24, 25} was also thought not to be responsible for the rickets of our patient, because our patient indicated no acidosis and normal response for ammonium chloride loading test and further, because rickets was not healed in spite of the fact that chronic pyelonephritis was cured bacteriologically and histologically at the age of 9 years. In our patient, a decreased sensitivity to vitamin D was inferred to be responsbile for the occurrence of rickets, which Soriano et al.²⁶ recently proved in their own case, although there were marked differences in the age of onset and clinical findings between our case and Soriano et al.'s case. However, the relationship remained obscure between a decreased sensitivity to developmental failure or congenital defects such as precocious puberty, mental vitamin D and retardation and eye changes, which suggested a kind of retinal dysplasia syndrome, ^29-34