Abstract
A brother and sister had renal, neurological and thyroid disease; both with normal mentality. The sister presented at one year of age with evidence of renal disease (BUN 35 mg/dl). At age 9 neurological deterioration, muscle wasting, ataxia and myoclonus developed. Diffuse goiter was present (T4 RIA 5.0 μg/dl; thyroid microsomal antibodies 1:100; I131 uptake 8% at 2 hours. Perchlorate discharge was 50%, indicating a possible organification defect). Sensorineural deafness was demonstrated. Platelets were low (20,000) and serum zinc was high (570 μg/dl). Hyperuricemia persisted (10.3 mg/dl). The condition progressed with generalized muscular weakness, hemiparesis, clonic-tonic seizures and increasing renal insufficiency. BUN was 120 mg/dl and serum creatinine 1.5 mg/dl. The discrepancy between BUN and creatinine persisted. Kidney biopsy and poat-mortem examination showed interstitial and tubular nephropathy with secondary glomerular sclerosis with negative immunofluorescence, simple colloid goiter and degenerative and focal demyelination of the cerebral white matter and extensive neuronal loss and demyelination of the cerebellum.
The brother is 13 years old and has interstitial nephritis (two biopsies), slurred speech, headaches, thrombocytopenia, an abnormal EEC and goiter.
Supported in part by The John W. Champion Center.
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Cutler, E., Bass, J., Romshe, C. et al. A FAMILIAL THYRO-CEREBRAL-RENAL SYNDROME: A NEWLY REC-ognized disorder. Pediatr Res 11, 525 (1977). https://doi.org/10.1203/00006450-197704000-00930
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DOI: https://doi.org/10.1203/00006450-197704000-00930