In view of the fact that the literature has not been reviewed in English and clinical observations are rare, the present study was undertaken. [jamanetwork.com]

Insensitivity to pain and areflexia are also present. (12 Dec 1998) [kmle.co.kr]

This book presents a brief survey on the bacteriology and parasitology of the eye. Organized into three parts encompassing 20 chapters, this book begins with an overview of the normal histology of the eye. [books.google.com]

Funding and Disclosures * From the Section of Neuropathology and the Medical Genetics Program, Indiana University Medical Center (expanded version of a paper presented at the meeting of the American Society of Human Genetics, Boulder, Colorado, August [nejm.org]

• Progressive Dementia

  dementia, and progressive and unremitting paralysis. [medical-dictionary.thefreedictionary.com]

  They are characterized by cerebromacular degeneration, progressive dementia, progressive loss of vision resulting in blindness, paralysis, and death, and are classified according to age of onset. [termisti.ulb.ac.be]

• Cerebral Palsy

  palsy Charcot child neurology childhood chorea Clark Clinical Neurology congenital contributions convulsions Crothers Cushing Dejerine described developmental diagnosis Diseases of Children Duchenne early epilepsy Figure 1 courtesy Frederick Batten Freud [books.google.com]

  Palsy Cerebrocostomandibular Syndrome Cerebrohepatorenal Syndrome CHARGE Syndrome Chondrodysplasia Punctata Syndromes Chromosomal Anomalies 10p , 10q , 11p-, 12p-, 13q-, 13q , 18q-, 21q-, 22q-, 3q , 4p-, 4p , 4q-, 4Q , 5p- (CriDu Chat or Cat’s Cry), [anybabycan.org]

• Poikilothermia

  […] including adjacent regions of romania, bulgaria, and yugoslavia. (12 Dec 1998) diffuse infantile familial sclerosis Dysmyelinating disease, autosomal recessive, usually presents by 1 yr, specific enzyme deficiency identified, rapid spontaneous nystagmus, poikilothermia [kmle.co.kr]

• Splenectomy

  Treatment includes splenectomy (removal of the spleen). [kmle.co.kr]

• Fatigue

  Fatigue, weakness and shortness of breath are other symptoms that may be seen in older patients. The spleen may also be enlarged. Treatment includes splenectomy (removal of the spleen). [kmle.co.kr]

• Eruptions

  Probably autosomal-dominance inheritance with incomplete penetrance. (05 Mar 2000) benign familial chronic pemphigus Recurrent eruption of vesicles and bullae that become scaling and crusted lesions with vesicular borders, predominantly of the neck, groin [kmle.co.kr]

• Progressive Loss of Vision

  They are characterized by cerebromacular degeneration, progressive dementia, progressive loss of vision resulting in blindness, paralysis, and death, and are classified according to age of onset. [termisti.ulb.ac.be]

  After a normal or slightly retarded development, the illness often starts with progressive loss of vision. Progressive spasticity, athetosis, loss of speech, minor convulsions. [whonamedit.com]

• Meningism

  German Gowers Hagberg Harvey Cushing hemiplegia Hospital Hughlings Jackson hydrocephalus infant infantile Institute interest John John Hughlings Jackson laboratory later lectures Lennox lesions Lombroso London Max Bielschowsky Medical School medicine meningitis [books.google.com]

  Congestive changes in the fundus are observed in all diseases involving increased intracranial pressure (tumor, hydrocephalus, meningitis, encephalitis). [minclinic.ru]

• Tremor

  Later: blindness, frequent respiratory infections, incoordination, tremor, ataxia, spastic weakness, increased tendon reflexes, Babinski signs, mental deterioration, and dysarthria. Both sexes affected. [whonamedit.com]

• Mydriasis

  […] amaurotic Relating to or suffering from amaurosis. (05 Mar 2000) amaurotic cat's eye A yellow reflex from the pupil in cases of retinoblastoma or pseudoglioma. (05 Mar 2000) amaurotic mydriasis A moderate widening of both pupils resulting from impaired [kmle.co.kr]

• Gait Ataxia

  ataxia and upper limb coordination. [kmle.co.kr]

• Areflexia

  Insensitivity to pain and areflexia are also present. (12 Dec 1998) [kmle.co.kr]

• Excessive Drooling

  Excessive drooling and convulsions become evident. Blindness and head enlargement set in by the second year. "Fatal by age 2 or 3 years" today would be modified to "fatal by age 5." After age 2, total constant nursing care is needed. [medicinenet.com]

Treatment includes splenectomy (removal of the spleen). [kmle.co.kr]

Osler paper paralysis Paris pathology patients pediatric pediatric neurology pediatricians physician professor psychiatry published reported Rett syndrome Sachs sclerosis seizures Society Spielmeyer spinal cord studies symptoms syndrome Thiemich tion treatment [books.google.com]

Treatment of the optic nerve and retina diseases Treatment options for diseases of the optic nerve and retina is chosen individually in each case. [minclinic.ru]

ICD- 9 : 330.1 TREATMENT There is currently no known cure or treatment for TSD. Medical management of children with TSD is planned on a case-by-case basis and depends on the individual circumstances of the patient. [secure.ssa.gov]

Acne: Treatment With Alpha Hydroxy Acids Acne: Treatment With Antibiotics Acne: Treatment With Benzoyl Peroxide Acne: Treatment With Salicylic Acid Acosta's Disease Acoustic Neurilemoma acoustic neurinoma Acoustic Neuroma ACPS II ACPS III ACPS IV ACPS [healthmedicinet.com]

On investigation of the reported cases, they found that neither consanguinity nor syphilitic, alcoholic, or nervous antecedents in the family history are factors in the etiology of the disease. [en.wikipedia.org]

[…] in 1859. [6] Fluorescein angiography shows filling of the choroid and ciliary branches perfusing the optic nerve head, while displaying delayed retinal arterial filling and prolongation of the arteriovenous circulation time. [7] One can determine the etiology [bioline.org.br]

Some epidemiologic and genetic aspects of Tay-Sachs disease. In : Cerebral Sphingolipidoses : A Symposium on Tay. Sachs Disease and Allied Disorders, p. 359. Ed. ited by Aronson, S. M. and Volk, B. W. New York, 1962. Academic Press, Inc. 147. [kundoc.com]

W, Infantile amaurotic family idiocy (occurrence, genetic considerations and pathophysiology in the non-Jewish infant). Pediatrics, 26 : 229, 1960. 146. MYRIANrHOPOULos, N. C. Some epidemiologic and genetic aspects of Tay-Sachs disease. [kundoc.com]

Myopathy NMSIDS Near-miss Sudden Infant Death Syndrome ISKDC International Study Of Kidney Diseases In Childhood JAI Java Advanced Imaging; Juvenile Amaurotic Idiocy JOAG Juvenile Open-angle Glaucoma IS Infantile Spasms CHDP Child Health And Disability Prevention [medicabbreviations.com]

No preventive measures have as yet been discovered, and no treatment has been of benefit, all the cases having terminated fatally. [en.wikipedia.org]

Can It Be Prevented? You can have a blood test that analyzes your genes or the levels of the Hex-A protein in your blood to tell you whether you are a carrier. [webmd.com]

• Carrier detection in risk populations is successful in prevention. [medlink.com]

Alcohol Withdrawal Antianxiety Medicines for Irritable Bowel Syndrome Antibiotic Sensitivity Test Antibiotic-Induced Proctitis Antibiotics for an Ear Infection, Deciding About Antibiotics, Using Wisely Antibody Tests for Lupus Anticoagulants for Stroke Prevention [healthmedicinet.com]