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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Louis-bar syndrome, Boder-sedgwick syndrome.
Diagnosis
History and Symptoms | Physical Examination | Laboratory Findings | CT | MRI | Other Diagnostic Studies
Treatment
Medical Therapy | Cost Effectiveness of Therapy | Future or Investigational Therapies
Case Studies
- Case #1
| Phakomatoses and other congenital malformations not elsewhere classified (Q85-Q89, 759) |
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| Phakomatoses | Abdallat Davis Farrage syndrome - Ataxia telangiectasia - Incontinentia pigmenti - Neurofibromatosis (type I, type II) - Peutz-Jeghers syndrome - Sturge-Weber syndrome - Tuberous sclerosis - Von Hippel-Lindau disease |
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| Due to known exogenous causes | Fetal alcohol syndrome - Phocomelia (via Thalidomide) |
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| Affecting multiple systems | facial (Mobius syndrome, Goldenhar syndrome, Cyclopia, Apert syndrome)
short stature (Aarskog-Scott syndrome, Cockayne syndrome, Cornelia de Lange Syndrome, Dubowitz syndrome, Noonan syndrome, Robinow syndrome, Silver-Russell dwarfism, Seckel syndrome, Smith-Lemli-Opitz syndrome)
limbs (Adducted thumb syndrome, Holt-Oram syndrome, Klippel-Trenaunay-Weber syndrome, Nail-patella syndrome, Rubinstein-Taybi syndrome, Sirenomelia, VACTERL association)
overgrowth (Beckwith-Wiedemann syndrome, Sotos syndrome, Weaver syndrome)
combined/other Ablepharon macrostomia syndrome - Alport syndrome - Bardet-Biedl syndrome - Branchio-oto-renal syndrome - Donohue syndrome - Fraser syndrome - Keutel syndrome - Marfan syndrome - Timothy syndrome - Urban-Rogers-Meyer syndrome - Vici syndrome - Yunis-Varon syndrome - Zellweger syndrome - Zimmerman-Laband syndrome - Zori Stalker Williams syndrome |
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| Other | spleen: Asplenia - Splenomegaly
endocrine glands: Persistent thyroglossal duct - Thyroglossal cyst
Conjoined twins - Cowden syndrome - Hamartoma - Impossible syndrome - Situs inversus |
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| Pathology of the nervous system, primarily CNS (G00-G47, 320-349) |
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Inflammatory diseases
of the CNS | Meningitis (Arachnoiditis) - Encephalitis - Myelitis - Encephalomyelitis (Acute disseminated) - Tropical spastic paraparesis |
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Systemic atrophies
primarily affecting the CNS | Huntington's
Spinocerebellar ataxia (Friedreich's ataxia, Ataxia telangiectasia, Hereditary spastic paraplegia)
Spinal muscular atrophy: Werdnig-Hoffman - Kugelberg-Welander - Fazio Londe - MND (ALS, PMA, PBP, PP, PLS) |
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Extrapyramidal and
movement disorders | Parkinson's disease - Neuroleptic malignant syndrome - Postencephalitic parkinsonism - Pantothenate kinase-associated neurodegeneration - Progressive supranuclear palsy - Striatonigral degeneration
Dystonia/Dyskinesia (Spasmodic torticollis, Meige's, Blepharospasm)
Essential tremor - Myoclonus - Lafora
Chorea (Choreoathetosis) - Restless legs - Stiff person |
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Other degenerative /
demyelinating diseases | Alzheimer's - Pick's - Alpers' - Dementia with Lewy bodies - Leigh's
demyelinating: Multiple sclerosis - Devic's - Central pontine myelinolysis - Transverse myelitis |
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| Seizure/epilepsy | Focal (Simple partial, Complex partial) - Generalised (Tonic-clonic, Absence, Atonic, Benign familial neonatal)
Lennox-Gastaut - West - Epilepsia partialis continua - Status epilepticus (Complex partial status epilepticus) |
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| Headache | Migraine (Familial hemiplegic) - Cluster - Vascular - Tension |
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| Vascular | Transient ischemic attack (Amaurosis fugax, Transient global amnesia)
Cerebrovascular disease (MCA, ACA, PCA, Foville's, Millard-Gubler, Lateral medullary, Weber's, Lacunar stroke) |
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| Sleep disorders | Insomnia - Hypersomnia - Sleep apnea (Ondine's curse) - Narcolepsy - Cataplexy - Kleine-Levin - Circadian rhythm sleep - Delayed sleep phase - Advanced sleep phase |
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| Other | Intracranial hypertension: Hydrocephalus (Normal pressure) - Idiopathic intracranial hypertension
Encephalopathy - Brain herniation - Cerebral edema - Reye's - Syringomyelia - Syringobulbia - Spinal cord compression |
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de:Louis-Bar-Syndromit:Atassia teleangectasica
he:תסמונת אטקסיה טלנגיאקטזיהsr:Атаксија-телеангиектатика
