Degenerative central nervous system (CNS) disease.

1. Jennifer Rich, MD* 1. 2. *The Children’s Hospital at Montefiore Bronx, NY 1. Rett Syndrome: Clinical Update and Review of Recent Genetic Advances. Ellaway C, Christodoulou J. J Pediatr Child Health . 1999;35:419-426 [OpenUrl][1][CrossRef][2] 2. Heredodegenerative Disease. Menkes J, eds. Child Neurology . 6th 2000:171-227 Lippincott Williams & Wilkins Philadelphia, Pa 3. Clinical Characteristics of Children With Cerebral White Matter Abnormalities. Kristjansdottir R, Uvebrant P. Europ J Pediatr Neurol . 2000;4:17-26 4. The Inherited Neurodegenerative Disorders of Childhood: Clinical Assessment. Percy AK. J Child Neurol . 1987;2:82 [OpenUrl][3][Abstract/FREE Full Text][4] 5. Second International Rett Syndrome Workshop and Symposium. Percy AK. J Child Neurol . 1993;8:97 [OpenUrl][5][FREE Full Text][6] The hallmark of degenerative disorders of the CNS is the progressive loss of previously acquired abilities. In infants and young children, a deceleration in the rate of development is often the first presentation: the child falls progressively behind other children and only subsequently loses previously acquired milestones. When the declining developmental quotient is not due to an extrinsic agent or event or to secondary involvement of the CNS by a generalized systemic disease, neurodegenerative disease becomes a consideration. The acquisition of new developmental milestones does not exclude the existence of a degenerative disorder. In healthy infants, strides in development occur sporadically, with a child often appearing to have reached a plateau for several weeks. Initially, it may be only the prolongation of one of these plateaus that leads to suspicion of a progressive neurodegenerative disease Most degenerative CNS disorders can be divided clinically into three groups: gray-matter diseases, white-matter diseases, and system diseases. The gray-matter diseases, which primarily involve the neurons, occur with or without histologic evidence of storage of abnormal metabolic products. They lead to neuronal death and secondary degeneration of axons. In the white-matter diseases, myelin is disrupted, either by the destruction of normal myelin or by the production of biochemically abnormal myelin. The system diseases are a heterogeneous group of conditions involving progressive degeneration of anatomically defined systems, such as the dorsal columns, pyramidal tracts, or cerebellar nuclei. Typically, both neurons and myelin are destroyed in these disorders. The first clinical task in … [1]: {openurl}?query=rft.jtitle%253DJ%2BPediatr%2BChild%2BHealth.%26rft.volume%253D35%26rft.spage%253D419%26rft_id%253Dinfo%253Adoi%252F10.1046%252Fj.1440-1754.1999.355403.x%26rft.genre%253Darticle%26rft_val_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Ajournal%26ctx_ver%253DZ39.88-2004%26url_ver%253DZ39.88-2004%26url_ctx_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Actx [2]: /lookup/external-ref?access_num=10.1046/j.1440-1754.1999.355403.x&link_type=DOI [3]: {openurl}?query=rft.jtitle%253DJournal%2Bof%2BChild%2BNeurology%26rft.stitle%253DJ%2BChild%2BNeurol%26rft.issn%253D0883-0738%26rft.aulast%253DPercy%26rft.auinit1%253DA.%2BK.%26rft.volume%253D2%26rft.issue%253D2%26rft.spage%253D82%26rft.epage%253D97%26rft.atitle%253DReview%2BArticle%253A%2BThe%2BInherited%2BNeurodegenerative%2BDisorders%2Bof%2BChildhood%253A%2BClinical%2BAssessment%26rft_id%253Dinfo%253Adoi%252F10.1177%252F088307388700200202%26rft_id%253Dinfo%253Apmid%252F3110262%26rft.genre%253Darticle%26rft_val_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Ajournal%26ctx_ver%253DZ39.88-2004%26url_ver%253DZ39.88-2004%26url_ctx_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Actx [4]: /lookup/ijlink?linkType=ABST&journalCode=spjcn&resid=2/2/82&atom=%2Fpedsinreview%2F22%2F5%2F175.atom [5]: {openurl}?query=rft.jtitle%253DJournal%2Bof%2BChild%2BNeurology%26rft.stitle%253DJ%2BChild%2BNeurol%26rft.issn%253D0883-0738%26rft.aulast%253DPercy%26rft.auinit1%253DA.%26rft.volume%253D8%26rft.issue%253D1%26rft.spage%253D97%26rft.epage%253D100%26rft.atitle%253DMeeting%2BReport%253A%2BSecond%2BInternational%2BRett%2BSyndrome%2BWorkshop%2Band%2BSymposium%2B%25288-11%2BOctober%2B1992%252C%2BOrlando%252C%2BFlorida%252C%2BUSA%2529%26rft_id%253Dinfo%253Adoi%252F10.1177%252F088307389300800113%26rft_id%253Dinfo%253Apmid%252F8445177%26rft.genre%253Darticle%26rft_val_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Ajournal%26ctx_ver%253DZ39.88-2004%26url_ver%253DZ39.88-2004%26url_ctx_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Actx [6]: /lookup/ijlink?linkType=PDF&journalCode=spjcn&resid=8/1/97&atom=%2Fpedsinreview%2F22%2F5%2F175.atom