Neurocutaneous Syndromes
NEUROFIBROMATOSIS TYPE 1, ASTROCYTOMAS AND NEUROFIBROMAS KEY FACTS Autosomal dominant (chromosome 17) or sporadic (50%) disorder, ten times more common than NF-2; prominent cutaneous lesions, plexiform neurofibromas, and…
NEUROFIBROMATOSIS TYPE 1, ASTROCYTOMAS AND NEUROFIBROMAS KEY FACTS Autosomal dominant (chromosome 17) or sporadic (50%) disorder, ten times more common than NF-2; prominent cutaneous lesions, plexiform neurofibromas, and…
ARTERIOVENOUS MALFORMATIONS KEY FACTS Congenital in nature, generally present in middle age (65% in patients >40 years of age). Very rare, incidence of 1:100,000 individuals. Arteriovenous malformations…
ANKYLOSING SPONDYLITIS (SERONEGATIVE SPONDYLOARTHROPATHY) KEYFACTS This disease occurs predominantly in young men and is associated with histocompatibility antigen B27. Ankylosing spondylitis is found in 1.4% of the…
TRAUMA: AVULSION AND STRETCH INJURIES KEY FACTS Nerve root avulsions are generally caused by traction injuries of the extremities (in the lower cervical spine, they are related to…
AMINO ACID DISORDERS KEY FACTS In this rare group of disorders, amino acid pathways are deficient, and proteolipids, which are essential for formation of myelin, are abnormal. …
MYELOMENINGOCELE AND MYELOCELE KEY FACTS Myelomeningocele and myelocele are both midline bone defects through which meninges and/ or neural placode (unfolded spinal cord) are visible; most discovered by…
ADRENOLEUKODYSTROPHY KEY FACTS Most important peroxisomal disorder which is characterized by very long-chain fatty acids that are not metabolized and are elevated in serum and other body fluids….