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         Cerebrohepatorenal Syndrome:     more detail

41. Carpal Tunnel Syndrome
Edema@ (4) Cerebral Gigantism@ (5) Cerebral Palsy@ (156) Cerebrocostomandibular Syndrome@ (2) cerebrohepatorenal syndrome@ (5) Cerebrotendinous Xanthomatosis
http://www.thenewhealthfind.com/health/Carpal Tunnel Syndrome
Carpal Tunnel Syndrome
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      Directory   Home: Health: Conditions and Diseases: Neurological Disorders: Peripheral Nervous System: Nerve Compression Syndromes: Carpal Tunnel (28) See Also: Health: Conditions and Diseases: Musculoskeletal Disorders: Repetitive Strain Injuries Health: Medicine: Surgery: Orthopedics The Hand Center - Information on hand surgery and treatments for carpal tunnel syndrome in Texas. Carpal Tunnel Syndrome - The history and treatment of carpal tunnel syndrome with details of surgery with endoscopic carpal tunnel release by Michael G Brown MD. Carpal Tunnel Syndrome - What causes carpal tunnel syndrome and repetitive strain injuries? Also a look at the symptoms and treatments. BodymindResources.com - Carpal Tunnel
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42. The New Health Directory
Palsy@ (156); Cerebrocostomandibular Syndrome@ (2); cerebrohepatorenal syndrome@ (5); Cerebrotendinous Xanthomatosis@ (4); Cervical
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43. Stoornissen Van De Peroxisomale Biogenese
in humans Zellweger Syndrome ( Ziekte van Zellweger ) Synoniemen ZS; cerebrohepatorenal syndrome; CHR Syndrome; ZWS. Who Named
http://www.homepages.hetnet.nl/~b1beukema/ziekperoxi.html

Stoornissen van de peroxisomale biogenese
Extra informatie: Peroxisomal fatty acid alpha- and beta oxidation in humans
  • Zellweger Syndrome ( Ziekte van Zellweger )
    Synoniemen: ZS; Cerebrohepatorenal Syndrome; CHR Syndrome; ZWS.
    Who Named It?: Hans Ulrich Zellweger
    OMIM:
    OMIM: Clinical Synopsis
    Extra informatie: e-medicine: Peroxisomal disorders
    Extra informatie: The peroxisome website
    Pseudo Zellweger Syndrome ( Peroxisomal 3-oxoacyl CoA Thiolase Deficiency )
    Deze stoornis is nu ondergebracht onder: D-Bifunctional protein Deficiency D-Bifunctional protein deficiency Synoniemen voor deze stoornis zijn: Deficiency of 17-abeta-hydroxysteroid dehydrogenase IV; DBP deficiency; Peroxisomal bifunctional enzyme deficiency; PBFE deficiency. OMIM: OMIM Clinical Synopsis OMIM: 17-abeta-hydroxysteroid dehydrogenase IV e-medicine: Peroxisomal disorders The peroxisome website Adrenoleukodystrophy, autosomal neonatal form
  • 44. Leukodystrofie
    Ziekte van Zellweger ( Zellweger Syndrome ) Synoniemen ZS; cerebrohepatorenal syndrome; CHR Syndrome; ZWS. OMIM 214100 OMIM Clinical
    http://www.homepages.hetnet.nl/~b1beukema/leukodystrofie.html
    Leukodystrofie
    Leuko of leuco betekent “ wit “.
    Dystrofie of dystrophia betekent “ degeneratie “ ( ziekelijke veranderingen in de cellen).
    Leukodystrofie : Een ziekelijke verandering van de witte stof.
    Myeline wordt de witte stof genoemd.
    Myeline: Myeline is een vetachtige stof die in de vorm van myeline of mergschede de neuriet isolerend omhult. Deze schede wordt omkleed door het neurilemma ( schede van Schwann). De myelineschede speelt een belangrijke rol bij de impulsgeleiding in de axon
    De mergschede ontstaat op opmerkelijke wijze. Langs de embryonale zenuwvezel liggen – bij zenuwvezels van het perifeer zenuwstelsel– als een parelsnoer cellen van Schwann , die de vezel als het ware omhullen.
    De inwendige plooi van de celmembraan van de cel van Schwann, waarbinnen de zenuwvezel is gelegen, gaat enkele tientallen keren roteren, waardoor een rol van celmembranen om de vezel wordt gevormd. Elke rol vormt een segment van de mergschede.
    De segmenten grenzen aan elkaar, door een

    45. Penn State Faculty Research Expertise Database (FRED)
    Related Terms, cerebrohepatorenal syndrome, ZellwegerLike Syndrome. Cerebro Cerebro-Hepato-Renal Syndromes, cerebrohepatorenal syndromes. Diseases
    http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D015211

    46. Free Online ICD9/ICD9CM Codes And Medical Dictionary
    Zellweger Syndrome cerebrohepatorenal syndrome ZellwegerLike Syndrome Cerebro-Hepato-Renal Syndrome Zellweger Disease Zellweger s Syndrome
    http://icd9cm.chrisendres.com/index.php?action=dictdtl&recordid=13172

    47. Free Online ICD9/ICD9CM Codes And Medical Dictionary
    1 subitems. SmithLemli-Opitz syndrome (cerebrohepatorenal syndrome) 759.89. Smith-Strang disease (oasthouse urine) 270.2. Smokers . 5 subitems.
    http://icd9cm.chrisendres.com/index.php?action=alphaletter&letter=Sl

    48. NORD - National Organization For Rare Disorders, Inc.
    To purchase fulltext report ($7.50) View Cart/Checkout. Copyright 1987, 1990, 1998 Synonyms of Zellweger Syndrome Bowen Syndrome; cerebrohepatorenal syndrome.
    http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Zellweger Syn

    49. C Conditions And Diseases Health English
    Syndrome English Health Conditions and Diseases Rare Disorders Cerebrocostomandibular Syndrome ? cerebrohepatorenal syndrome English Health Conditions and
    http://www.interactiva.org/Dir/I/English/Health/Conditions_and_Diseases/C/
    www.interactiva.org English Deutsch Espa±ol ... C C : Health Conditions and Diseases C: Campylobacter Pylori: English Health Conditions and Diseases Digestive Disorders Stomach Peptic Ulcer Helicobacter Pylori
    Canavan Disease: English Health Conditions and Diseases Neurological Disorders Demyelinating Diseases Leukodystrophy
    Cancer: English Health Conditions and Diseases Cancer
    Candida: English Health Conditions and Diseases Infectious Diseases Fungal Candida
    Cardiomyopathy: English Health Conditions and Diseases Cardiovascular Disorders Heart Disease Cardiomyopathy
    Carpal Tunnel Syndrome: English Health Conditions and Diseases Neurological Disorders Peripheral Nervous System Nerve Compression Syndromes Carpal Tunnel
    Cataracts: English Health Conditions and Diseases Eye Disorders Cataract
    Cat-Scratch Disease: English Health Conditions and Diseases Infectious Diseases Bacterial Bacillary Angiomatosis
    Causalgia: English Health Conditions and Diseases Neurological Disorders Autonomic Nervous System Complex Regional Pain Syndromes Causalgia
    Celiac Disease: English Health Conditions and Diseases Digestive Disorders Intestinal Celiac Disease
    Central Auditory Processing Disorders: English Health Mental Health Disorders Child and Adolescent Learning Disabilities Central Auditory Processing Disorders Central Pontine Myelinolysis: English Health Conditions and Diseases Neurological Disorders Brain Diseases Metabolic Central Pontine Myelinolysis Cerebellar Diseases: English Health Conditions and Diseases Neurological Disorders Brain Diseases Cerebellar Cerebellar Vermis Agenesis:

    50. Genetic And Rare Diseases Information Center - Office Of Rare Diseases
    gov. Disease Zellweger syndrome. Synonyms cerebrohepatorenal syndrome. CHR. ZWS. ZS. Zellweger leukodystrophy. Disease Information. PubMed
    http://ord.aspensys.com/asp/diseases/diseaseinfo.asp?ID=7917

    51. ► Congenital Cataract
    PierreRobin syndrome; familial congenital cataracts; Hallerman-Streiff syndrome; cerebrohepatorenal syndrome (Lowe s syndrome); Trisomy
    http://www.umm.edu/ency/article/001615.htm
    Disease Nutrition Surgery Symptoms Injury ... Encyclopedia (English)
    Toggle English Spanish
    Congenital cataract
    Overview Symptoms Treatment Prevention Definition: A cataract is any clouding of the lens of the eye. a congenital cataract is an opacity of the lens that occurs in the fetus at some time during pregnancy and is present at birth.
    Alternative Names: Cataract - congenital
    Causes, incidence, and risk factors: Although there are many diseases and inherited disorders that can lead to congenital cataracts, the actual incidence of congenital cataracts is low. In most patients with congenital cataract, no specific cause can be identified.
    This is a partial list of possible causes of congenital cataracts:
    • galactosemia chondrodysplasia syndrome congenital rubella syndrome Down's syndrome (trisomy 21) Pierre-Robin syndrome familial congenital cataracts Hallerman-Streiff syndrome cerebrohepatorenal syndrome (Lowe's syndrome) Trisomy 13 Conradi syndrome Ectodermal dysplasia syndrome Marinesco-Sjogren syndrome

    Eye
    Cataract - close-up of the eye Rubella Syndrome Cataract Review Date: 6/6/2001
    Reviewed By: Edward B. Feinberg, M.D., M.P.H., Department of Ophthalmology, Boston University School of Medicine and Harvard Medical School, Boston, MA. Review provided by VeriMed Healthcare Network.

    52. Select Entries From OMIM -- Online Mendelian Inheritance In Man
    DUCT, AND PREMATURE AGING *249000 MECKEL SYNDROME, TYPE 1; MKS1 106200 ANIRIDIA; AN1 *214110 cerebrohepatorenal syndrome, VARIANT TYPES *170995 ATPBINDING
    http://anatomy.med.unsw.edu.au/cbl/embryo/OMIMfind/eye/congen_cataract.htm
    Select Entries from OMIM Online Mendelian Inheritance in Man
    Back to Senses Abnormalities 109 entries found, searching for "congenital cataracts"
    CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY
    CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKE FACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION
    SPINOCEREBELLAR DEGENERATION WITH MACULAR CORNEAL DYSTROPHY, CONGENITAL CATARACTS, AND MYOPIA
    SPLIT-HAND WITH CONGENITAL NYSTAGMUS, FUNDAL CHANGES, AND CATARACTS
    HYPERFERRITINEMIA-CATARACT SYNDROME
    CATARACT, CONGENITAL TOTAL, WITH POSTERIOR SUTURAL OPACITIES IN HETEROZYGOTES; CCT
    CATARACT, CONGENITAL OR JUVENILE
    OCULOFACIOCARDIODENTAL SYNDROME
    PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 3; PITX3
    CATARACT, CONGENITAL, CERULEAN TYPE, 2; CCA2 CATARACT, CONGENITAL, CERULEAN TYPE, 1; CCA1 LACTOSE INTOLERANCE, CONGENITAL GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD DYSTROPHIA MYOTONICA COCHLEOSACCULAR DEGENERATION OF THE INNER EAR WITH PROGRESSIVE CATARACTS CORNEA GUTTATA WITH ANTERIOR POLAR CATARACTS MICROPHTHALMIA-CATARACT CATARACT, TOTAL CONGENITAL; CC

    53. Healthcyclopedia Index - C
    Cerebral Gigantism, Cerebral Palsy. Cerebrocostomandibular Syndrome, cerebrohepatorenal syndrome. Cerebrotendinous Xanthomatosis, Cervical Cancer.
    http://www.healthcyclopedia.com/c.html

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    55. Glossary In Congenital Malformations
    Zellweger syndrome (cerebrohepatorenal syndrome) Zellweger syndrome is a peroxisomal disease with autosomal recessive transmission.
    http://moon.ouhsc.edu/kfung/JTY1/NeuroHelp/ZNG0BS01-Z.htm
    Glossary in Congenital Malformations NeuroLearn NeuroHelp Malformations General ... Z General Syndromes and Sequences Head #Zellweger syndrome (cerebrohepatorenal syndrome): Zellweger syndrome is a peroxisomal disease with autosomal recessive transmission. Biochemically it is characterized by abnormal accumulation of very long chain fatty acid. The peroxisomal Beta-oxidation is impaired and lead to the accumulation of saturated very long chain (over 22 carbon) fatty acid (VLCFA). Pathologically, there is migration defect affecting both the cerebral hemisphere and cerebellar hemisphere. Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile Refsum’s disease constitute a disease continuum of peroxisomal disorders. Migration disorders can be seen in both Zellweger syndrome and, less severely, in NALD. No malformation has been reported in infantile Refsum’s disease. NeuroLearn NeuroHelp Malformations General ... Syndromes For Comment: KarMing-Fung@ouhsc.edu

    56. Health, Conditions And Diseases, C
    Cerebrocostomandibular Syndrome@ (2); cerebrohepatorenal syndrome@ (5); Cerebrotendinous Xanthomatosis@ (1); Cervical Cancer@ (20); Cervical Dysplasia
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  • 57. Arthrogryposis Multiplex Congenita
    Zellweger Syndrome Zellweger syndrome or cerebrohepatorenal syndrome is characterized by severe hypotonia, brachycephaly, widely open fontanels and sutures
    http://pediatricneuro.com/alfonso/pg160.htm
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    The diagnosis of this syndrome in females is very difficult because the most characteristic features (cryptorchidism and hypospadia) are not present. Brain and brainstem malformations may be present. Arthrogryposis is more prominent in the hands. Smith-Lemli-Opitz syndrome is due to a severe defect in cholesterol biosynthesis. The defective enzyme is 7-dehydrocholesterol reductase. This defect leads to a high level of the cholesterol precursor 7-dehydrocholesterol and low cholesterol levels. The low cholesterol levels lead to abnormalities of mitochondrial function, hormone synthesis, myelinization and bile acid and vitamin D metabolism. Smith-Lemli-Opitz syndrome can be diagnosed prenatally or postnatally by measuring 7-dehydrocholesterol using chromatographic assay. Most patients with Smith-Lemli-Opitz syndrome die during the neonatal period. Survivors are severely mentally retarded. Smith-Lemli-Opitz syndrome is an autosomal recessive condition. Zellweger Syndrome
    Zellweger syndrome or cerebrohepatorenal syndrome is characterized by severe hypotonia, brachycephaly, widely open fontanels and sutures, hepatomegaly, hypospadias and cryptorchidism in males (Figure 160.1), and clitoral hypertrophy in females. Patients with Zellweger syndrome have a prominent forehead, flat occiput, round face, micrognathia, anteverted nares, low-set dysplastic ears, hypertelorism, puffy eyelids, epicanthal folds, glaucoma, cataracts, corneal clouding, and Brushfield spots.

    58. Upper Motor Neuron System Hypotonia
    production of alpha neuroaminidase without the marker that guides it to the lysosomes), Zellweger syndrome or cerebrohepatorenal syndrome (peroxisomal disease
    http://pediatricneuro.com/alfonso/pg113.htm
    MainMenu Back Next Index MainMenu Back Next Index

    59. Medical Information Site With Residency Directory, Auctions, Lab
    Pseudosclerosis 94) Cerebral Sclerosis, Diffuse 95) Cerebral Vasospasm 96) Cerebroatrophic Hyperammonemia 97) cerebrohepatorenal syndrome 98) Cerebrooculorenal
    http://www.residency.info/dxenc/index.php?v=2&l=C

    60. Neonatology On The Web: Inborn Errors Of Metabolism
    several important exceptions Peroxisomal disorders such as Zellweger s cerebrohepatorenal syndrome. Patients are dysmorphic with
    http://www.neonatology.org/syllabus/iem.03.html
    Neo Home New Clinical Computers ... Links
    Inborn Errors of Metabolism:
    Algorithms for Evaluation
    william.wilcox@cshs.org
    Metabolic Acidosis
    Suspected IEM with Metabolic Acidosis, Diagnostic Flowchart The presence of metabolic acidosis is an important finding and the starting point for one of the two algorithms. If the anion gap is normal and associated with hyperchloremia, this suggests loss of bicarbonate either from the gastrointestinal tract or kidneys. The presence of renal tubular acidosis does not rule out an IEM, however. Galactosemia and Lowe's syndrome (oculocerebrorenal syndrome, an X-linked recessive disorder with congenital cataracts, proximal RTA, and mental retardation) as well as many other metabolic disorders which present later are associated with a RTA, usually a proximal RTA. RTA is often found with disorders of energy metabolism. Elevated anion gap acidosis can be divided into 3 categories depending on the presence of ketones and glucose level. Because the normal ketones (acetoacetic acid and 3-hydroxybutyrate) come from the oxidation of fatty acids, their absence associated with significant hypoglycemia can be suggestive of a fatty acid oxidation disorder. These disorders often present later in life with a Reye syndrome picture or "SIDS". The presence of ketones in the urine (may only be 1+) hypoglycemia suggests an organic aciduria or lactic acidosis. Hyperglycemia and ketonuria defines diabetes mellitus. Metabolic acidosis cannot be further differentiated without the results of the amino and organic acids. If these are normal (except for the changes found with lactic acidosis), then the lactate/pyruvate ratio and the glucose level will allow differentiation into 1) glycogen storage disease, gluconeogenesis disorders, or endocrine causes; 2) disorders of pyruvate metabolism; or 3) defects in mitochondrial energy metabolism.

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