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Addison-Schilder syndrome
Also known as:
Addison disease-cerebral sclerosis syndrome
Fanconi-Prader syndrome
Schilder’s disease
Schilder-Addison syndrome
Siemerling-Creutzfeldt syndrome
Associated persons:
Thomas Addison
Hans Gerhard Creutzfeldt
Guido Fanconi
Andrea Prader
Paul Ferdinand Schilder
Ernst Siemerling
Description:
This heritable syndrome is a metabolic disorder combining the characteristics of Addison’s disease (bronze skin disease) and cerebral sclerosis (Schilder disease). The main features are skin bronzing and adrenal insufficiency associated with extensive demyelination and sclerosis of the brain. The cerebral lesions may present behaviour disturbances and deteriorating mental and motor abnormalities in boys, usually seen between 5 and 15 years. The first symptoms, consisting of difficulties in learning, ataxia, or seizures, are often associated with emotional instability. In other patients, neurological symptoms may be discrete or absent, and the clinical picture is dominated by adrenal insufficiency. The neurological consequences can be blindness, deafness, hemiplegia, quadriplegia, pseudobulbar palsy and dementia. The course is progressive. Female carrieres are unaffected, but most show hyperpigmentattion. A few patients survive into the fifth decade. Inheritance is probably X-linked.
Siemerling and Creutzfeldt first described a case in 1923. Guido Fanconi, Andrea Prader, Werner Isler (pediatrician, Zurich, 1919-2002), Fritz Lüthy (neurologist, Zurich, 1895-1988), and Rudolf Siebenmann (pathologist, Zurich, born 1922) defined the disease picture in 1963.
We thank Patrick Jucker-Kupper, Switzerland, for information submitted.
Bibliography:
- W. Scholz:
Klinische, pathologisch-anatomische und erbbiologische Untersuchungen bei familiärer, diffuser Hirnsklerose im Kindesalter (Ein Beitrag zur Lehre von den Heredodegenerationen).
Zeitschrift für Neurologie, Berlin, 1925, 99: 651-717.
- T. Addison:
Anaemia. Disease of the supra-renal capsules.
London Hospital Gazette, 1849, 43: 517-518.
- P. F. Schilder:
Zur Kenntnis der sogenannten diffusen Sklerose (über Encephalitis periaxialis diffusa).
Zeitschrift für Neurologie, Berlin, 1912, 10: 1.
- E. Siemerling, H. G. Creutzfeldt:
Bronzekrankheit und sklerosierende Encephalomyelitis (diffuse Sklerose).
Archiv für Psychiatrie, Berlin, 1923, 68: 217-244.
- G. Fanconi, A. Prader, W. Isler, F. Lüthy, R. Siebenmann:
Morbus Addison mit Hirnsklerosse im Kindesalter. Ein hereditäres Syndrom mit X-chromosomaler Vererbung?
Helvetica paediatrica acta, Basel, 1963, 18: 480-501.
We thank Micaela Sullivan-Fowler, Wisconsin, U.S.A., for correcting an error in our original entry.
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