Schilder Syndrome

At a glance

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.

Synonyms

Flatau-Schilder Syndrome; Heubner-Schilder Syn­drome; Schilder-Addison Syndrome; Addison-Schilder Syndrome; Scholz type of Diffuse Cerebral Sclerosis; Encephalitis Periaxialis Diffusa; Diffuse Periaxial Encephalitis; Scholz type of Metachromatic Leukodystrophy; Myelinoclastic Diffuse Sclerosis; Sudanophilic Leukodystrophy.

History

First described by Paul Schilder (1886-1940), an Austrian neurologist.

Incidence

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.

Genetic inheritance

X-linked.

Diagnosis

Based on clinical features. May be confirmed by familial history and the finding of striking metachromasia on brain histology.

Clinical aspects

The onset of the disease is during the first decade of life. It is characterized by neural degeneration, including deafness, blindness, weakness, and spasticity of the lower legs. Poor pharyngeal control with aspiration pneumonia is frequent. Adrenal insufficiency (Addison-Schilder Syndrome) possible—pigmented skin. Schilder’s disease responds well to corticosteroids, improves significantly and relapse is rare. Radiological findings persist. Death commonly occurs within 2 years of onset of symptoms.

Precautions before anesthesia

Upper motor neuron disease with peripheral degeneration producing a giant motor unit. Paraplegia with poor autonomic control must be assessed, especially in view of hemodynamic control. There is a high prevalence of seizure disorder and medications must be given until the morning of the anesthesia procedure. The risk of gastric reflux and regurgitation must be evaluated carefully because of the 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.

Anesthetic considerations

Hemodynamic instability may be present as a result of neural degeneration. Most patients show a poor airway control which necessitates that the tracheal extubation be performed when the patient is fully awake. Recovery should be conducted with the patient lying on the side. Provide corticosteroid at induction of anesthesia even in the absence of signs of adrenal insufficiency.

Pharmacological implications

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 intra- and postoperatively.

Other conditions to be considered

• Krabbe Disease: Similar neurochemistry disorder and presentation as Schilder disease but leads ...