We report a 36-year-old male patient with marble bone disease complicated by chronic renal insufficiency and late cortical cerebellar atrophy. The patient had albuminuria at the age of 12 but was left untreated. The history of the present disease was as follows: The patient vistited Kinan Hospital because of phlegmon in the face. BUN was 135mg/d
l and creatinine 15.3mg/d
l. Blood gas analysis revealed marked acidosis (pH 7.07). Therefore hemodialysis was instituted. The patient indicated intellectual disturbance, speech disorder and hepatic dysfunction. He was referred and admitted to our hospital on April 14, 1989.
Chest, lumbar and pelvic X-rays showed diffuse marked osteosclerosis, leading to a diagnosis of marble bone disease. In MRI of the lumbar spine, both T
1-and T
2-weighted images showed no signals, indicating that there was little bone marrow.
With regard to ataxia, MRI of the brain revealed marked atrophy of a cerebellar hemisphere without atrophy of the brain stem. These findings suggest a complication of late cortical cerebellar atrophy.
Sly et al. reported patients with marble bone disease complicated by tubular acidosis in 1972. They noted that all cases lacked carbonic anhydrase activity. They also stated that the disease is an autosomally inherited, independent, new congenital metabolic disorder. In Japan, the first case was reported by Aramaki et al. in 1991. The activity of carbonic anhydrase II in our case was within normal levels.
The relationships among marble bone disease, chronic renal insufficiency and late cortical cerebellar atrophy are not clear. However, marble bone disease and some cases of late cortical cerebellar atrophy are hereditary diseases, and the possibility that these findings represent a new clinical entity cannot be denied. Further investigation is necessary.
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