Schilder Syndrome

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.

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.

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

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.

X-linked.

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

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).

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.

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.

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.

Krabbe Disease: Similar neurochemistry disorder and presentation as Schilder disease but leads to sudanophilic cerebral sclerosis, metachromatic leukodystrophy, and adrenoleukodystrophy.

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.

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.

Canavan Syndrome: A progressive leukodystrophy caused by spongy degeneration of the CNS. It is uniformly fatal within 18 months after onset of symptoms.

Metachromatic Leukodystrophy: An inherited disorder of myelin metabolism with progressive loss of white matter in the central and peripheral nervous system.

Pelizaeus-Merzbacher Syndrome: A very rare slowly progressive dysmyelinating disease affecting in a diffuse pattern the cerebrum, cerebellum, brainstem, and spinal cord. Two types are described: X-linked (Infantile form) and the autosomal dominant (preadulthood form). Clinical features also include: stridor, muscle spasticity, nystagmus. Often fatal in the first year of life from respiratory complications.

X-Linked Adrenoleukodystrophy (XLA): A disorder characterized by progressive demyelinization of the CNS and peripheral adrenal insufficiency.

Zellweger Syndrome: A disorder characterized by the congenital absence of functioning peroxisomes (the cellular structures that are responsible for the elimination of toxic substances) resulting in a cerebrohepatorenal syndrome. The disease affects brain development, particularly myelination. Most important features include hepatomegaly, polycystic kidney disease, visual disturbances, and high plasma levels of iron and copper. Other features include muscular hypotonia already noticeable at birth, mental retardation, seizures, coagulopathy, and dysphagia with recurrent aspiration. Congenital heart defects have been described. Life expectancy is approximately 6 months.