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A rare, progressive, and lethal disease of the central nervous system
that affects mostly children and characterized by adrenal atrophy and
diffuse central demyelination. Presents with progressive dementia,
spasticity, cortical blindness, deafness, hemiplegia, quadriplegia, ataxia,
pyramidal signs, retrobulbar neuritis, and pseudobulbar palsy. Seizures.
Onset in late childhood. Most patients die within few months after onset.
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Flatau-Schilder Syndrome; Heubner-Schilder Syndrome;
Schilder-Addison Syndrome (could be a misnomer); Addison-Schilder Syndrome;
Scholz type of Diffuse Cerebral Sclerosis; Encephalitis Periaxialis Diffusa;
Diffuse Periaxial Encephalitis; Scholz type of Metachromatic Leukodystrophy;
Myelinoclastic Diffuse Sclerosis.
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First described by Paul Schilder (1886-1940), an Austrian
neurologist.
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In the United States, the frequency is considered very rare
(5:100,000 children). There are no international epidemiological studies large enough to
determine the incidence.
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Based on clinical features. May be confirmed by familial
history and the finding of striking metachromasia on brain histology.
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Onset during the first decade and characterized by neural
degeneration, including deafness, blindness, weakness, and spasticity of the
lower legs. Poor pharyngeal control with aspiration pneumonia. Adrenal
insufficiency (Addison-Schilder syndrome).
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Upper motor neuron disease with
peripheral degeneration producing a giant motor unit. Paraplegia with poor
autonomic control. High prevalence of seizure disorder. Gastric reflux with an
elevated risk of pulmonary aspiration. Relevant airway complications related to poor
pharyngeal muscle control complicated by the presence of copious oral secretions. Adrenal
involvement is frequent: check adrenal function and serum electrolytes.
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Hemodynamic instability may be present as a result of neural degeneration. Most patients
show a poor airway control which recessitates that the tracheal extubation be performed
when the patient is fully awake. Recovery should be conducted with the patient lying on
the side.
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The use of succinylcholine should be
avoided because of the risk of hyperkaliemia (nerve denervation). In addition,
because of adrenal involvement, steroid hormone supplementation may be necessary intraand postoperatively.
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Krabbe Disease: Similar neurochemistry disorder and
presentation as Schilder disease but leads to sudanophilic cerebral
sclerosis, metachromatic leukodystrophy, and adrenoleukodystrophy.
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Multiple Sclerosis: An inflammatory disease of the central nervous system (CNS)
affecting mostly the white matter and leading to patches of neural tissue damage called myelin
plaques. Central demyelination leading to spasticity, cortical blindness,
motor nerve dysfunction with potential to hemiplegia, quadriplegia, ataxia,
pyramidal signs, retrobulbar neuritis, and pseudobulbar palsy is often associated.
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Alexander Syndrome: A degenerative and progressive
disorder of the central nervous system caused by leukodystrophy. Affects mainly
males and usually begins at about 6 months of age. Symptoms include mental
and physical retardation, enlargement of the brain and head, spasticity
(arms and legs), and seizures.
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Canavan Syndrome: A progressive leukodystrophy caused by
spongy degeneration of the CNS. It is uniformly fatal within 18 months after
onset of symptoms.
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Metachromatic Leukodystrophy: An inherited disorder of
myelin metabolism with progressive loss ...