Premium
A sibship with neuroaxonal dystrophy and renal tubular acidosis: A new syndrome?
Author(s) -
Maccario Micheline,
Mena Hernando,
Weir Michael R.,
Matson Michael D.,
Reimann Bernhard E. F.
Publication year - 1983
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410130605
Subject(s) - pathology , medicine , lipofuscin , gliosis , autopsy , pathological , azotemia , neurological examination , renal tubular acidosis , hypotonia , urinary system , anatomy , acidosis , surgery , renal function
The clinical and pathological features of three siblings from nonconsanguineous parents are described. Two of the children died at 61/2 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 acidity 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.