Summary
Cystinosis usually spares the brain or causes only deposition of cystine crystals without destructive lesions in choroid plexus or, rarely, in brain parenchyma. A case of cystinosis is presented with unusually long survival and with bilateral necrosis, numerous concretions, and extensive demyelination of internal capsule and brachium pontis. No cystine crystals could be demonstrated in these lesions although they were present in the choroid plexus. The symmetry and unique distribution of the lesions as well as their histopathology suggested a progressive process caused by the metabolic dysfunction of cystinosis. The validity of this hypothesis will be determined by future experience as renal transplants enable more patients to survive into adult life.
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References
Baar HS, Bickel H (1952) Morbid anatomy, histology, and pathogenesis of Lignac-Fanconi disease. Acta Paediatr [Suppl 90] 42:171–237
Blackwood W, Corsellis JAN (1976) Greenfield's neuropathology, 3rd edn. Arnold, London, pp 617–619
Cohen MM (1957) Central nervous system in carbon tetrachloride intoxication. Neurology 7:238–244
Ebbesen F, Mygind KI, Holck F (1976) Infantile nephropathic cystinosis in Denmark. Dan Med Bull 23:216–222
Ehrich JHH, Stoeppler L, Offner G, Brodehl J (1979) Evidence for cerebral involvement in nephropathic cystinosis. Neuropaediatrie 10:128–137
Kunze WP (1976) Nephropathische Cystinose, Hyperparathyreoidismus und Kalkmetastasen Dtsch Med Wochenschr 101:545–548
Luse SA, Wood WG (1967) The brain in fatal carbon tetrachloride poisoning. Arch Neurol 17:304–312
Pena CE, Hashida Y (1970) Subacute necrotizing encephalomyelopathy: Report of a case with etiopathogenetic considerations. Am J Clin Pathol 53:270–274
Peterson BJ, Kuhn RJ (1965) Optical characterization of crystals in tissue. Cystine and calcium oxalate monohydrate. Am J Clin Pathol 43:401–408
Sammet JF, Bucy PC (1951) Symmetrical calcifications in the anterior limb of the internal capsules of the brain without demonstrable neurological or metabolic disturbances. Am J Roentg 66:880–883
Schneider JA, Schulman JD, Seegmiller JE (1978) Cystinosis and the Fanconi syndrome. In: Stanbury JB, Wyngaarden JB, Frederickson DS (eds) Metabolic basis of inherited disease, 4th edn. McGraw Hill, New York
Schulman JD, Bradley KH (1973) In vitro studies on cystinosis. In: Schulman JD (ed) Cystinosis. DHEW Publication no. (NIH) 72-249, Washington, DC, pp 111–145
Wöckel W, Meerbach W, Rüdiger D (1971) Zystinose mit Beteiligung des Zentralnervensystems und der Muskulatur (Myopathie). Zentralbl Allg Pathol 114:493–498
Wolf N (1952) Histologische Untersuchungsbefunde des Gehirns bei einem Fall von Cystinspeicherkrankheit. Arch Psychiatr Nervenkr 188:456–460
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Levine, S., Paparo, G. Brain lesions in a case of cystinosis. Acta Neuropathol 57, 217–220 (1982). https://doi.org/10.1007/BF00685392
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DOI: https://doi.org/10.1007/BF00685392