Schilder type multiple sclerosis

Schilder's disease, considered a variant of multiple sclerosis (MS), is an extremely rare progressive demyelinating process that begins in childhood ¹.

Epidemiology 

The disease is extremely rare with less than 10 cases reported in the literature that fulfill the original Posner diagnostic criteria ¹.

Clinical Presentation presentation

Symptoms include aphasia, balance instability, dementia, headache, incontinence, personality changes, seizures, tremors, visual disturbances and weakness ¹.

Diagnostic Criteriacriteria 

Proposed by Posner in 1985, all six criteria must be met ². 

• 1-2 large plaques: should be in each brain hemisphere predominantly in centrum semiovale. Lesions are greater than 2 cm in 2/3 dimensions
• no additional lesions identified
• no peripheral nervous system abnormality
• normal adrenal function
• normal serum long chain fatty acids 
• pathologic/histologic changes consistent with subacute/chronic myelinoclastic diffuse sclerosis 

Radiographic features

MRI

Often has 1-2 large demyelinating plaques, which are hyperintense on T2 weighted images, in each brain hemisphere predominantly in the centrum semiovale. Lesions should be greater than 2 cm in 2/3 dimensions ³.

Note that the diagnosis cannot be made on imaging findings alone.

Treatment

Patients have a poor prognosis. Current recommendations are high dose corticosteroids and supportive care ³.