Nervous system

• split cord malformation
  21 December 2011

  Split cord malformation (SCM) is a rare condition.
  References
  Split cord malformation - A study of 300 cases at AIIMS 1990-2006. Mahapatra AK. J Pediatr Neurosci. 2011 Oct;6(Suppl 1):S41-5. PMID: #22069430# [Free]

• cervical dysraphism
  21 December 2011

  Cervical spinal dysraphism; Cystic spinal dysraphism of the cervical region
  Definition: Cervical spinal dysraphism is a rare congenital spinal pathology.
  Spinal dysraphisms are the most common congenital anomalies of the CNS. Spinal dysraphism (SD) of cervical and upper thoracic region are rare, demonstrating distinct clinical and structural configurations compared to lumbar counterparts.
  Cervicothoracic SD has more favorable outcome in respect to neurological, orthopaedic and urologic (...)

• congenital hypomyelinating diseases
  14 November 2011

  hypomyelinating leukoencephalopathy, hypomyelinating leukoencephalopathies

• encephalomyopathies
  27 June 2011

  Types (examples)
  mitochondrial encephalomyopathies
  See also
  encephalopathies
  myopathies

• psychological stress
  17 April 2011

  References
  Stress and the epigenetic landscape: a link to the pathobiology of human diseases? Johnstone SE, Baylin SB. Nat Rev Genet. 2010 Nov;11(11):806-12. PMID: #20921961#

• visceral neuropathy
  28 November 2009

  Localization
  digestive neuropathic CIPO
  References
  Visceral neuropathy and intestinal pseudo-obstruction in a murine model of a nuclear inclusion disease. Clarke CM, Plata C, Cole B, Tsuchiya K, La Spada AR, Kapur RP. Gastroenterology. 2007 Dec;133(6):1971-8. PMID: #18054568#

• neuronal nuclear inclusion disease
  28 November 2009

  nuclear inclusion disease, neuronal intranuclear hyaline inclusion disease

• mitochondrial encephalomyopathies
  14 April 2009

  Although many of the inherited disorders of mitochon-drial oxidative phosphorylation present as muscle diseases, some of them involve the central nervous system either as a primary target or in addition to skeletal muscle.
  While these disorders are typically associated with a specific class of mutation, there remains some genetic heterogeneity within otherwise well-defined clinicopathologic entities.
  Types
  Leigh syndrome (subacute necrotizing encephalopathy)
  myoclonic epilepsy and (...)

• nervous system genetic metabolic diseases
  14 April 2009

  A subset of genetic metabolic diseases affects the nervous system preferentially and will be discussed here; other metabolic diseases are covered elsewhere in this book.
  Many of these disorders express themselves in children who are normal at birth but who begin to miss developmental milestones during infancy and childhood.
  Neuronal storage diseases are mostly autosomal-recessive diseases caused by a deficiency of a specific enzyme involved in the catabolism of sphingolipids, (...)

• cortical degenerative disease
  14 April 2009

  cortical degenerative diseases

0 | 10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90