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Diffuse Cerebral Sclerosis of Schilder

Schilder's Disease


Presentation

  • Macrophages and lymphocytes may also be present with evidence of activity (i.e., foamy macrophages). Axons and U-fibers are spared; very little intact myelin will be present. There will be no tumor cells present.[clinicaladvisor.com]
  • The disease presents with both adrenal atrophy and diffuse cerebral demyelination.[wikidoc.org]
  • In 1922, we presented before the American Neurological Association 1 the clinical and pathologic observations in a case which we termed progressive subcortical encephalopathy.[jamanetwork.com]
  • It presents adrenal atrophy and diffuse cerebral demyelination.[bionity.com]
Orthostatic Hypotension
  • Urinary and rectal incontinence, orthostatic hypotension, and progressive spasticity are the main symptoms.[icd9data.com]
Hyperpigmentation
  • Mild cutaneous hyperpigmentation was notice in a maternal uncle.[scielo.mec.pt]
Chronic Abscess
  • These neuroimaging features mimic closely with that of glial neoplasm or even a chronic abscess. This misdiagnosis can lead to inadvertent surgery or radiotherapy.[jmgims.co.in]
Psychomotor Retardation
  • retardation, involuntary movements, ataxia, and death in the second decade of life.[icd9data.com]
Seizure
  • Clinical findings Onset at age 5 and 10 with reversal of neurologic milestones, seizures, ataxia, Addison's disease, degeneration of visual and auditory function.[medical-dictionary.thefreedictionary.com]
  • […] develops, such as spina bifida Degenerative diseases, where nerve cells are damaged or die, such as Parkinson's disease and Alzheimer's disease Diseases of the blood vessels that supply the brain, such as stroke Injuries to the spinal cord and brain Seizure[icdlist.com]
  • Diagnosis Symptoms Symptoms are similar to those in multiple sclerosis and may include dementia, aphasia, seizures, personality changes, poor attention, tremors, instability, incontinence, muscle weakness, headache, vomiting, and vision and speech impairment[wikidoc.org]
  • Additional recommended knowledge Symptoms Symptoms are similar to those in multiple sclerosis and may include dementia, aphasia, seizures, personality changes, poor attention, tremors, balance instability, incontinence, muscle weakness, headache, vomiting[bionity.com]
  • Variable neurological abnormalities progressively develop and include personality changes, poor attention, dementia, aphasia, headache, vomiting, tremor, seizures, balance instability, incontinence, muscle weakness.[orpha.net]
Ataxia
  • ( Friedreich's ataxia, Ataxia telangiectasia, Hereditary spastic paraplegia ) Spinal muscular atrophy : Werdnig-Hoffman - Kugelberg-Welander - Fazio Londe - MND ( ALS, PMA, PBP, PP, PLS ) Extrapyramidal and movement disorders Parkinson's disease - Neuroleptic[wikidoc.org]
  • ( Friedreich's ataxia, Ataxia telangiectasia, Hereditary spastic paraplegia ) Spinal muscular atrophy : Werdnig-Hoffman disease - Kugelberg-Welander disease - Fazio Londe syndrome - MND ( Amyotrophic lateral sclerosis (ALS), Progressive muscular atrophy[bionity.com]
  • Clinical findings Onset at age 5 and 10 with reversal of neurologic milestones, seizures, ataxia, Addison's disease, degeneration of visual and auditory function.[medical-dictionary.thefreedictionary.com]
  • The early symptoms include rotary movements of the head and eyes, which may vanish later in life, usually followed by spasticity of the legs and arms, cerebellar ataxia, dementia, and parkinsonian tremor.[icd9data.com]
  • Symptoms may include progressive stiffness, weakness or paralysis of the lower limbs, and ataxia. Although adult-onset ALD progresses more slowly than the classic childhood form, it can also result in deterioration of brain function.[ninds.nih.gov]
Headache
  • The disease often occurs shortly after an infectious illness and may manifest with headache, malaise and fever.[orpha.net]
  • Schilder’s disease often occurs shortly after an infectious illness and may begin with headache, a general feeling of discomfort or illness, and fever.[nationalmssociety.org]
  • Diagnosis Symptoms Symptoms are similar to those in multiple sclerosis and may include dementia, aphasia, seizures, personality changes, poor attention, tremors, instability, incontinence, muscle weakness, headache, vomiting, and vision and speech impairment[wikidoc.org]
  • Additional recommended knowledge Symptoms Symptoms are similar to those in multiple sclerosis and may include dementia, aphasia, seizures, personality changes, poor attention, tremors, balance instability, incontinence, muscle weakness, headache, vomiting[bionity.com]
  • The child originally presented with a 3-week history of nausea, vomiting and frontal headaches. Magnetic resonance imaging showed a large, contrast-enhancing, right frontal lobe mass which was ultimately resected uneventfully.[karger.com]
Spastic Paraplegia
  • paraplegia ) Spinal muscular atrophy : Werdnig-Hoffman - Kugelberg-Welander - Fazio Londe - MND ( ALS, PMA, PBP, PP, PLS ) Extrapyramidal and movement disorders Parkinson's disease - Neuroleptic malignant syndrome - Postencephalitic parkinsonism - Pantothenate[wikidoc.org]
  • paraplegia ) Spinal muscular atrophy : Werdnig-Hoffman disease - Kugelberg-Welander disease - Fazio Londe syndrome - MND ( Amyotrophic lateral sclerosis (ALS), Progressive muscular atrophy (PMA), Progressive bulbar, Pseudobulbar, PLS ) Extrapyramidal[bionity.com]
  • Late-onset krabbe disease (lokd) has first symptoms at ages 5 to 10 years, consisting of focal neurological signs, hemiparesis, cerebellar ataxia, cortical blindness, and spastic paraplegia, followed by mental and physical deterioration.[icd9data.com]
  • paraplegia spastic paraplegia, lower limb Ontology Lookup Service Spinal Muscular Atrophy spinal muscular atrophy Ontology Lookup Service Spinocerebellar ataxia type 3 azorean disease of the nervous system, machado disease, machado-joseph disease, mjd[hpscreg.eu]
  • James Garbern, Chapter 17 X-Linked Spastic Paraplegia, Spinocerebellar Degenerations: The Ataxias and Spastic Paraplegias, 10.1016/S1877-184X(09)70091-7, (344-366), (2007).[doi.org]
Neurologic Manifestation
  • DISCUSSION X-ALD is a frequent cause of Addison’s disease in boys and adult males. 8 Adrenocortical insufficiency can be its presenting symptom and occur years before the onset of neurological manifestations. 8 The only symptom related to the adrenocortical[scielo.mec.pt]
  • Phenotypes include the rapidly progressive childhood, adolescent, and adult cerebral forms; adrenomyeloneuropathy, which presents as slowly progressive paraparesis in adults; and Addison disease without neurologic manifestations.[doi.org]
  • Although the variation in clinical phenotypes is great, neurologic manifestations are present in nearly all males by adulthood. Nomenclature Siemerling-Creuzfeldt disease is the eponym for X-ALD.[ncbi.nlm.nih.gov]

Workup

  • The major progress made in the clinical, genetic, enzymatic and biochemical workup of many of the conditions previously grouped under the denomination of Schilder''s disease confirms its heterogeneity.[karger.com]

Treatment

  • […] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience[books.google.com]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • This book has been created for patients who have decided to make education and research an integral part of the treatment process. ...[amazon.com]
  • The treatment is generally symptomatic. Pilot data from gene therapy has been promising, but is still inconclusive as of mid-2011.[medical-dictionary.thefreedictionary.com]

Prognosis

  • Prognosis Prognosis of Schilder's disease is variable. The clinical course is usually progressive, but significant improvement and remissions have also been described. Survival has been reported to be less than ten years after the onset.[orpha.net]
  • Prognosis Dismal. The treatment is generally symptomatic. Pilot data from gene therapy has been promising, but is still inconclusive as of mid-2011.[medical-dictionary.thefreedictionary.com]
  • Prognosis and clinical course The prognosis of this disease is very variable and can take three different courses: a monophasic, not remitting; [ 2 ] , [ 7 ] remitting; [ 8 ] [ 9 ] [ 10 ] and finally, progressive, with increase in deficits. [ 11 ] Treatments[research.omicsgroup.org]
  • Prognosis Only nine patients who fit the tightly defined diagnosis of diffuse sclerosis have been reported. In these patients, deterioration has been constant and usually rapid with death within five years.[patient.info]
  • Epidemiology and Demographics The disorder usually begins in childhood with an age of onset between 5 and 14 years old. [4] [5] Natrual History, Complication and Prognosis The prognosis of this disease is very variable and can take three different courses[wikidoc.org]

Etiology

  • Etiology Pathologically, it is characterized by bilateral widespread demyelination of the brain hemispheres with varying degrees of axonal injury. Etiology remains unclear.[orpha.net]
  • […] search builder options Subheadings: analysis anatomy and histology blood cerebrospinal fluid chemically induced chemistry classification complications congenital diagnosis diagnostic imaging diet therapy drug therapy enzymology epidemiology ethnology etiology[ncbi.nlm.nih.gov]
  • […] mutation of pseudogene Fabry病 偽遺伝子変異 1 不要 有 HPS1632 HPS1633 HPS1634 HPS1635 HPS1636 HPS1637 GM1-gangliosidosis GM1ガングリオシドーシス 1 不要 有 HPS1532 HPS1533 HPS1534 HPS1535 HPS1536 HPS1537 2 不要 有 HPS2337 HPS2338 HPS2339 HPS2340 Hunter syndrome, unknown genetic etiology[cell.brc.riken.jp]
  • CD001331 Ongoing controversies regarding etiology, diagnosis, treatment The major controversy regarding Schilder’s disease is defining it both in the acute and (rarely) recurrent states.[clinicaladvisor.com]
  • Diagnosis upon the basis of imaging studies without pathological confirmation increases the likelihood of etiological heterogeneity, including such entities as leukodystrophy, tumor, SSPE, various types of vasculitis, lymphangiomatosis, collagen vascular[emedicine.medscape.com]

Epidemiology

  • Summary Epidemiology Less than 20 sporadic cases (predominantly males) have been reported so far. Clinical description The onset is usually in childhood (age 5-14 years).[orpha.net]
  • […] introduced: 2000(1963) PubMed search builder options Subheadings: analysis anatomy and histology blood cerebrospinal fluid chemically induced chemistry classification complications congenital diagnosis diagnostic imaging diet therapy drug therapy enzymology epidemiology[ncbi.nlm.nih.gov]
  • Adrenoleukodystrophy Epidemiology Segmentation The disease epidemiology covered in the report provides historical as well as forecasted epidemiology [total prevalent cases, diagnosed prevalence of ALD by clinical manifestations (cerebral ALD, Adrenomyleoneuropathy[gii.co.jp]
  • Epidemiology Schilder's disease is very rare. Presentation The onset of illness is usually subacute, but may be more sudden. It often occurs shortly after an infectious illness. It may start with headache, malaise and fevers.[patient.info]
  • Epidemiology and Demographics The disorder usually begins in childhood with an age of onset between 5 and 14 years old. [4] [5] Natrual History, Complication and Prognosis The prognosis of this disease is very variable and can take three different courses[wikidoc.org]
Sex distribution
Age distribution

Pathophysiology

  • Having the pathophysiological as well as the ethical component allows me to engage my students on many levels. Ellen K. PROFESSOR “ I have shown Lorenzo’s Oil to my advanced chemistry students for years.[myelin.org]
  • […] adrenoleukodystrophy in every case thought to represent Schilder disease. [5] The small number of cases that Poser or other authorities have been willing to accept as examples of Schilder disease remains a heterogenous collection, and as yet, no understanding of the pathophysiological[emedicine.medscape.com]
  • Eichler, Pathophysiology of X-linked adrenoleukodystrophy, Biochimie, 98, (135), (2014). Simon Verheijden, Lien Beckers, Stephanie De Munter, Paul P.[doi.org]
  • Report Scope The report covers detailed overview of Adrenoleukodystrophy explaining its causes, symptoms, classification, pathophysiology, diagnosis and treatment patterns The report provides the insight about the historical and forecasted patient pool[gii.co.jp]

Prevention

  • Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets[books.google.com]
  • Recent evidence suggests that a mixture of oleic acid and erucic acid, known as "Lorenzo's Oil," administered to boys with X-ALD prior to symptom onset can prevent or delay the appearance of the childhood cerebral form It is not known whether Lorenzo's[ninds.nih.gov]
  • Our data suggest that the synergic activity of CLA and LO, by enhancing peroxisomal beta-oxidation and preventing 26:0 formation, improves the somatosensory evoked potentials and reduces neuroinflammation.[ncbi.nlm.nih.gov]

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