General Considerations Definitions Peripheral neuropathy, polyneuropathy: diffuse lesions of peripheral nerves, manifest by weakness, sensory loss, autonomic dysfunction. Mononeuropathy: single nerve affected (trauma, entrapment). Mononeuropathy multiplex: two or more nerves…
Tuberous Sclerosis Complex Genetics and Incidence Autosomal dominant; often sporadic. 2 recognized genes: chromosomes 9 (TSC1: hamartin), 16 (TSC2: tuberin); both tumor suppressor genes. Incidence 1:10,000. Prevalence 1:10,000 to 1:170,000….
Incontinentia Pigmenti Incontinentia Pigmenti Clinical Features Cutaneous: linear vesicobullous lesions at birth, rarely as late as 1 year. Lesions change to linear verrucous and dyskeratotic growth. Pigmentary changes follow: slate-gray…
Encephalotrigeminal Angiomatosis Also called Sturge-Weber-Dimitri Syndrome. Symptoms and Signs Characteristic syndrome: cutaneous vascular port-wine nevus of the face, contralateral hemiparesis and hemiatrophy, glaucoma, seizures, mental retardation. Neurologic: epilepsy most common…
Neurofibromatosis Cardinal features: multiple pigmented birthmarks on skin (“café-au-lait” spots), multiple neurofibromas. Two forms: neurofibromatosis type 1 (NF-1; von Recklinghausen disease, peripheral neurofibromatosis), neurofibromatosis type 2 (NF-2; central neurofibromatosis, bilateral…
Mitochondrial Diseases with Mutations of Nuclear DNA Most autosomal recessive, lack ragged red fibers (RRFs). Onset: infancy or childhood. Can be classified biochemically (Table 99.1). Selected disorders described below. Table…
Leber Hereditary Optic Neuropathy Loss of central vision. Maternal inheritance; point mutation in mtDNA. 60% to 90% of patients are men. Clinical Features Onset: adolescence or early adult years; progressive…
Mitochondrial Encephalomyopathies: Diseases of Mitochondrial DNA Two genomes control mitochondria: mitochondrial DNA (mtDNA) and nuclear DNA (nDNA). Diseases caused by nDNA mutations: Mendelian inheritance (see Chapter 99). Diseases caused by…
Differential Diagnosis Useful diagnostic resources include two online databases searchable by physical findings: On-Line Mendelian Inheritance in Man (OMIM, http://www-ncbi-nlm-nih-gov.easyaccess1.lib.cuhk.edu.hk/omim); SimulConsult Neurological Syndromes (http://www.simulconsult.com) Useful clues: inheritance pattern (Table 96.1),…
Diffuse Sclerosis Variant of multiple sclerosis; etiology, pathogenesis unknown. Also known as Schilder disease. Clinical syndrome: leukoencephalopathy (progressive dementia, psychosis, corticospinal signs, loss of vision, brainstem signs); onset usually in…
