Focal arteriolar narrowing Absent 112 (10.5) 1.0 174 (16.3) 1.0 296 (27.6) 1.0 Present 14 (8.5) 0.8 (0.4–1.6) 20 (12.2) 0.7 (0.4–1.3) 72 (43.9) 1.5 (0.9–2.4) Arteriovenous nicking Absent 89 (9.4) 1.0 150 (15.9) 1.0 270 (28.6) 1.0 Present 34 (12.3) 1.4 [stroke.ahajournals.org]

In this article, a 12-month-old female infant with psychomotor developmental retardation who was referred to our hospital with the initial diagnosis of leukemia due to the finding of pancytopenia is presented. [scopemed.org]

Addison's disease or other causes of dehydration and abnormal fluid balance occasionally present with cerebral cortical atrophy on CT and may be reversible with treatment. [neuroradiologycases.com]

Cerebral atrophy is frequent in patients with PTSD, whereas in patients with depression, besides cerebral atrophy, silent brain infarct is also frequently present. [ncbi.nlm.nih.gov]

Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by Mayr et al., 2010 ). [mendelian.co]

• Recurrent Respiratory Infections

  respiratory infections Respiratory tract infection Abnormality of the cerebral white matter Abnormality of eye movement Neuronal loss in central nervous system Abnormality of the periventricular white matter Emotional lability Hyperkinesis Astrocytosis [mendelian.co]

• Decreased Taste Sensation

  taste sensation Recurrent candida infections Increased serum zinc Sensorineural hearing impairment Cognitive impairment Hyperreflexia Muscular hypotonia of the trunk Abnormal bleeding Alopecia of scalp Adducted thumb Abnormality of the coagulation cascade [mendelian.co]

• Gingival Overgrowth

  overgrowth Macule Lipodystrophy Global brain atrophy Hypermelanotic macule Abnormal retinal morphology Areflexia Spastic tetraplegia Hyporeflexia Abnormality of the foot Impaired T cell function Paronychia Low alkaline phosphatase Decreased taste sensation [mendelian.co]

• Cyanosis

  METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE Methemoglobinemia due to NADH-cytochrome b5 reductase deficiency is an autosomal recessive disorder characterized clinically by decreased oxygen carrying capacity of the blood, with resultant cyanosis [mendelian.co]

• Corneal Opacity

  opacity CNS hypomyelination Pneumonia Breech presentation Heparan sulfate excretion in urine Microvesicular hepatic steatosis Delayed speech and language development Renal tubular acidosis Tics Hypoventilation Hyperkalemia Dementia Synophrys Renal cyst [mendelian.co]

• Foot Deformity

  Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. [mendelian.co]

• Joint Stiffness

  stiffness Developmental regression Tetraparesis Status epilepticus Congenital onset Renal hypoplasia Hyperammonemia Fasciculations Irritability Generalized tonic-clonic seizures Death in infancy Dystonia Hepatosplenomegaly Tongue fasciculations Sleep [mendelian.co]

• Flexion Contracture

  contracture Strabismus Joint stiffness Developmental regression Tetraparesis Status epilepticus Congenital onset Renal hypoplasia Hyperammonemia Fasciculations Irritability Generalized tonic-clonic seizures Death in infancy Dystonia Hepatosplenomegaly [mendelian.co]

• Urinary Incontinence

  Clinical manifestations include autonomic failure (orthostatic hypotension, syncope, respiratory disturbances (sleep apnea, stridor and inspiratory sighs), constipation, bladder dysfunction (early urinary incontinence), erectile dysfunction in males and [orpha.net]

• Hyperreflexia

  […] stagnation Ovoid thoracolumbar vertebrae Pallor Dense calvaria Nystagmus Abnormal facial shape Blindness Inguinal hernia Midface retrusion Hernia Absent speech Mandibular prognathia Visual loss Feeding difficulties in infancy Retinal degeneration Lower limb hyperreflexia [mendelian.co]

  In some cases, pyramidal signs (generalized hyperreflexia and positive Babinski sign) are observed. [orpha.net]

  Microcephaly is often present and there may a profound delay in psychomotor development with truncal hypotonia and hyperreflexia in the limbs. Brain imaging shows generalized atrophy with decreased myelination. [disorders.eyes.arizona.edu]

• Mental Deterioration

  Four Clinical Cases Who Mentally Deteriorated 1. A 25-year-old female was referred with severe chronic pain due to fibromyalgia. She claimed undertreatment for at least three years which interfered with her promising career. [practicalpainmanagement.com]

• Akinesia

  Cardioembolic infarction was defined to include atrial fibrillation, intracardiac thrombus or tumor, rheumatic mitral stenosis, prosthetic valves, endocarditis, sick sinus syndrome, left ventricular aneurysm or akinesia after acute myocardial infarction [stroke.ahajournals.org]

• Delayed Speech and Language Development

  speech and language development Renal tubular acidosis Tics Hypoventilation Hyperkalemia Dementia Synophrys Renal cyst Hepatic steatosis Respiratory failure Failure to thrive in infancy Chronic kidney disease Hyperactivity Hyponatremia Increased CSF [mendelian.co]

• Neonatal Hypotonia

  hypotonia and lactic acidosis. [mendelian.co]

RESULTS: Average age of the group of patients studied was 48 /-9.7 years, and average duration of psychiatric treatment was 6 /-7.3 years. [ncbi.nlm.nih.gov]

Replacement therapy with vitamin B12 resulted in marked improvement of psychomotor status, and cranial MRI performed 7 months following the diagnosis and treatment initiation revealed resolution of cortical atrophy. [scopemed.org]

Addison's disease or other causes of dehydration and abnormal fluid balance occasionally present with cerebral cortical atrophy on CT and may be reversible with treatment. [neuroradiologycases.com]

Pulmonary arteriovenous malformations: evaluation with CT of the chest before and after treatment. ‎ 233 ページ - Magnetic resonance imaging in planning limb-salvage surgery for primary malignant tumors of bone. [books.google.com]

Treatment Treatment Options: No treatment is available. [disorders.eyes.arizona.edu]

Disorders such as stroke can affect a person's quality of life and lifespan. x Prognosis Cerebral atrophy can affect a person's lifespan. [ninds.nih.gov]

Prognosis is poor with a median survival of 6-9 years. The documents contained in this web site are presented for information purposes only. [orpha.net]

Therapy and prognosis. Am J Med 1975;58:644-654 2. Abel T, Gladman D, Urowitz M. Neuropsychiatric lupus. J Rheumatol 1980;7:325-333 3. Hughes G. Central nervous system lupus-diagnosis and treatcment. J Rheumatol 1980;7:405-41 1 4. [rheum-care.com]

Although high doses of steroids may have been responsible for some of the lesions, alternate etiologies are required to explain the abnormality in others cases. [ncbi.nlm.nih.gov]

The ischemic stroke subtypes were classified into 5 core etiologic groupings: large vessel atherosclerosis; small vessel (lacunar); cardioembolic infarction; stroke of other etiology; and stroke of undetermined etiology or competing causes determined [stroke.ahajournals.org]

Etiology Etiology of MSA is unknown but presence of cytoplasmic aggregates of α-synuclein, primarily in oligodendroglia, in combination with neurodegeneration in striatonigral and olivopontocerebellar structures are the pathological hallmark features. [orpha.net]

The clinical cerebral manifestations of SLE were termed ”cerebritis” and included any abnormality of central neurologic function with a change from the prior state in the absence of other possible etiologies. [rheum-care.com]

Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability. Hum Mutat. 2017 Jun;38(6):621-636. [disorders.eyes.arizona.edu]

Annals of Epidemiology, 7, 219 – 224. Biessels, G. J., De Leeuw, F. E., Lindeboom, J., Barkhof, F. and Scheltens, P. ( 2006 ). Increased cortical atrophy in patients with Alzheimer's disease and type 2 diabetes mellitus. [cambridge.org]

Summary Epidemiology Prevalence ranges from 1/50,000-1/20,000. MSA-parkinsonian type (MSA-p) predominates in the Western Hemisphere and MSA-cerebellar type (MSA-c) predominates in the Eastern Hemisphere. Genders are equally distributed. [orpha.net]

In addition, epidemiological studies do not have detailed MRI phenotypic assessment so that differences between cortical and subcortical cerebral atrophy cannot be fully investigated in population-based studies. [stroke.ahajournals.org]

Retinal microvascular signs: a key to understanding the underlying pathophysiology of different stroke subtypes? Int J Stroke. 2008 ; 3 : 297–305. [stroke.ahajournals.org]

Although the study was not powered to assess the role of T2DM, the results suggested that glucose dysregulation may contribute to the pathophysiology of Alzheimer disease ( 32 ). [care.diabetesjournals.org]

In addition, studies of atrophy in different brain regions, and in patients with different MS phenotypes, are providing important new insights into the pathophysiology of the degenerative processes occurring in MS. [smw.ch]

Experts are still trying to figure out the answers to this question, and research into the prevention of cerebral SVD is ongoing. [betterhealthwhileaging.net]

This type of atrophy is preventable and often reversible if steps to improve B12 levels are implemented. [livestrong.com]

All parties must be educated about this fact and aggressively attempt to prevent brain atrophy in chronic pain patients. [practicalpainmanagement.com]

Regular practice of pranayama can prevent further degenerative process. It is better to consult an Ayurvedic doctor personally and undergo proper therapies. You may find some positive changes within 6 months to 1 year. Subscribe to our newsletter! [nirogam.com]

"Currently there are no treatments that will prevent or cure Alzheimer's disease, but information about risk of rapid decline may help patients with MCI and their families plan for the future," Dr. McEvoy said. [sciencedaily.com]