A sibship with neuroaxonal dystrophy and renal tubular acidosis: a new syndrome?
The clinical and pathological features of three siblings from nonconsanguineous parents are described. Two of the children died at 6 1/2 and 7 months of age of a central nervous system disorder characterized by severe behavioral retardation, hypotonia, and pyramidal tract signs. The third child, now 8 years old, has global mental retardation, inability to talk, marked tremors, and gait disturbances. All children exhibited inability to concentrate or acidify the urine, with growth delay partially corrected in the living child by alkali therapy. Computed tomographic scans revealed hyperdense lesions in the thalamus of one of the siblings and more striking hyperdensity of the basal ganglia in the eldest child. Findings at postmortem examination in two children, and by renal and sural nerve biopsy in the third, include swollen axons in the internal capsule and peripheral nerves, and neurons with iron-staining deposits, gliosis, and macrophages containing lipofuscin pigments in the brain. The renal findings include material positive for periodic acid-Schiff and hyperdense granular deposits in renal tubules.
D000141:Acidosis, Renal Tubular / Q000175:diagnosis / Q000235:genetics*; D001369:Axons / Q000648:ultrastructure; D001480:Basal Ganglia Diseases / Q000235:genetics*; D001921:Brain / Q000000981:diagnostic imaging / Q000648:ultrastructure; D001927:Brain Diseases / Q000235:genetics*; D003711:Demyelinating Diseases / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008854:Microscopy, Electron; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000235:genetics*; D013577:Syndrome; D014057:Tomography, X-Ray Computed