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Alexander disease MRI

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Filter By Location, Date & Price. No GP Referral Needed. No Waiting Lists. Rated 5 Stars. Owned & Run By Medical Practitioners. We Endeavour To Scan & Report In 7 Days Or Less fig 1.. Early MR imaging study at the age of 4 months in a patient with autopsy-proved infantile Alexander disease. A-D, T2-weighted images show abnormally high signal in the medulla (A), the hilus of the dentate nucleus (arrows, A), the entire midbrain except for the red nuclei (B), the basal ganglia, and the thalamus (C).The frontal white matter has a slightly higher signal intensity than. Alexander disease, also known as fibrinoid leukodystrophy, is a rare fatal leukodystrophy, which usually becomes clinically evident in the infantile period, although neonatal, juvenile and even adult variants are recognized

Alexander disease (AD) is a rare, progressive, autosomal dominant leukodystrophy affecting the central nervous system (CNS) white matter with frontal lobe preponderance. It was first described in 1949 by W. Stewart Alexander. But the first genetically proved case of AD was reported by Brenner's group in 2001 BACKGROUND AND PURPOSE: In recent years, the discovery that mutations in the glial fibrillary acidic protein gene (GFAP) were responsible for Alexander disease (AD) brought recognition of adult cases Alexander disease (fibrinoid leucodystrophy; originally described by Alexander in 1949) is a rare, fatal, nonfamilial leucoencephalopathy caused by astrocyte dysfunction characterised by missense mutation in the genes coding for glial fibrillary acidic protein (GFAP) Background: Alexander disease is most commonly associated with macrocephaly and, on MRI, a leukoencephalopathy with frontal preponderance. The disease is caused by mutation of the GFAP gene. Clinical and MRI phenotypic variation have been increasingly recognized

Childhood-onset Alexander disease is sporadic and typically presents with macrocephaly, rapid neurological deterioration, seizures and spasticity, and retarded psychomotor development. In some cases, the gene for glial fibrillary acidic protein (GFAP) has been implicated Diagnosis of Alexander disease is made based on the physical symptoms, imaging of the brain and the results of genetic tests. Magnetic resonance imaging (MRI) of the brain is a key diagnostic tool, as it can detect patterns in brain tissue that are characteristic of Alexander disease Alexander disease is one of a group of neurological conditions known as the leukodystrophies. Leukodystrophies are disorders that result from abnormalities in myelin, the white matter that protects nerve fibers in the brain

Alexander disease is a type of leukodystrophy characterized by the destruction of the myelin sheath (the fatty covering that acts as an insulator around nerve fiber) and abnormal protein deposits known as Rosenthal fibers. Most cases of Alexander disease begin before age 2 years (the infantile form) Therefore, sequential MRI in juvenile Alexander disease provides strong evidence against active demyelination as sole pathophysiological mechanism, although, of course, we cannot exclude the possibility of low-grade myelin loss as part of the pathology. The question is what the alternative explanation could be for our spectroscopic findings MRI revealed the presence of a periventricular rim, extensive frontal white matter abnormalities, abnormalities of the basal ganglia and thalami and contrast enhancement involving optic chiasm, fornix, hypothalamus and mamillary bodies, corresponding to four of the five reported MRI criteria for Alexander disease Recent reports have described the neuroradiologic findings in the early stages of Alexander disease as increased attenuation and contrast enhancement on computed tomography (CT) and demyelination, prominently in the frontal lobes, on magnetic resonance imaging (MRI) and CT [3-5] A brain MRI done in the neonatal period showed two of the five MRI criteria for Alexander disease diagnosis (frontal white matter abnormalities and periventricular rim); at 3 months of age the MRI showed four of the five criteria (abnormalities of basal ganglia and thalami and brain stem abnormalities were present, in addition to the previous findings)

Alexander Disease has been divided into three forms based on age of onset and type of symptoms: infantile, juvenile, and adult forms. All of the forms are rare, although adult onset Alexander disease is the most rare of the group. The combined use of the often characteristic MRI pattern and DNA analysis has greatly improved the diagnosis of. Histologically, Alexander disease is characterized by Rosenthal fibers, homogeneous eosinophilic masses which form elongated tapered rods up to 30 microns in length, which are scattered throughout the cortex and white matter and are most numerous in the subpial, perivascular and subependymal regions Background: Alexander disease is most commonly associated with macrocephaly and, on MRI, a leukoencephalopathy with frontal preponderance. The disease is caused by mutation of the GFAP gene. Clinical and MRI phenotypic variation have been increasingly recognized. Methods: The authors studied seven patients with Alexander disease, diagnosed based on mutations in the GFAP gene, who presented. Alexander disease (AD) in its typical form is an infantile lethal leucodystrophy, characterized pathologically by Rosenthal fibre accumulation. Following the identification of glial fibrillary acidic protein (GFAP) gene as the causative gene, cases of adult-onset AD (AOAD) are being described with increasing frequency Alexander disease has historically been included among the leukodystrophies-diseases of the white matter of the brain. These diseases affect the fatty material (myelin) that forms an insulating wrapping (sheath) around certain nerve fibers (axons)

Alexander disease is caused by a defect in the glial fibrillary acidic protein (GFAP) gene in around 90 percent of cases, according to the Genetic and Rare Diseases Information Center. The GFAP.. Detecting the signs of Alexander disease is possible with magnetic resonance imaging (MRI), which looks for specific changes in the brain that may be tell-tale signs for the disease. It is even possible to detect adult-onset Alexander disease with MRI. Alexander disease may also be revealed by genetic testing for its known cause Alexander disease (AxD) is a rare neurological disease, especially in adults. It shows variable clinical and radiological features. We diagnosed a female with AxD presenting with paroxysmal numbness of the limbs at the onset age of 28-year-old, progressing gradually to spastic paraparesis at age 30. One year later, she had ataxia, bulbar paralysis, bowel and bladder urgency Alexander disease (ALX) is a rare neurological disorder characterized by white matter degeneration and cytoplasmic inclusions in astrocytes called Rosenthal fibers, labeled by antibodies against glial fibrillary acidic protein (GFAP) Radiological findings in Alexander disease. MRI on a 2.5-month-old child with Alexander disease (confirmed by biopsy) that shows extensive loss of frontal and temporal cerebral tissue with some cystic changes and a periventricular rim of abnormal signal intensit

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Introduction. Alexander disease (AD) is an infantile leucodystrophy first described in 1949 and characterized by macrocephaly, psychomotor regression, spasticity, ataxia and seizures leading to death in a few years (Li et al., 2005; Quinlan et al., 2007).Rosenthal fibres, eosinophylic inclusions localized in astrocyte cytoplasm, are the pathologic hallmark of the disease and are mainly found. Owned & Run By Medical Practitioners. We Endeavour To Scan & Report In 7 Days Or Less. Instantly Refer Yourself For A Private Mri Scan Today Using Our Online Booking System A diagnosis of Alexander Disease is strongly considered for children who experience one or more of the symptoms listed above, especially megalencephaly, as well as leukodystrophy once other types are ruled out. Magnetic Resonance Imaging (MRI) is suggested in order to gain a clear picture of whether or not Alexander Disease is the cause MRI has proven to be a useful tool for diagnosing AD, and often shows high signal intensity of white matter in the frontal area and basal ganglia. Alexander disease is usually sporadic and is most often caused by de novo heterozygous mutations in the GFAP gene. The recurrence risk, even when both parents are negative for GFAP mutations, is.

MRI findings in patients who develop Alexander disease in adulthood differ substantially from those of the early-onset form of the disease . White matter signal intensity abnormalities (increased signal intensity on T2-weighted and FLAIR MR images) and mild to severe atrophy of the medulla oblongata extending caudally to the upper cervical. Alexander disease as a gain-of-function disorder of GFAP. Alexander disease is considered a gain-of-function disorder in the sense that the GFAP mutations produce consequences that differ dramatically from those caused by the absence of GFAP (for review, see Brenner et al., 2009).There are three observations that indicate that the primary effect of the GFAP mutations is a gain of function: (1. Severity and variety of clinical presentations differ within AOAD patients. 3 As in our case, MRI should be a good method to suspect these patients. 1 Previous reports have shown that AOAD may be diagnosed incidentally by imaging. 4 Since Alexander disease is caused by genetic mutation, diagnosed patients need to be guided for genetic.

Alexander Disease: Diagnosis with MR Imaging American

Alexander disease is diagnosed based on radiological findings such as MRI and CT scan, and head ultrasound. Genetic test is also usually ordered if the symptoms are present. The disease is incurable but the treatment is systematic and supportive. That includes antibiotic therapy, anti-epileptic therapy, surgical treatment and physical. The news that was most hard to hear came Thursday, 23 August 2012, that the follow up MRI results show Daniel possibly has Alexanders Disease. So, yet again, another blood test and 'hurry up and wait' for another 6 - 8 weeks for the results

A year ago, Grayson was diagnosed with Alexander disease, an extremely rare type of leukodystrophy that destroys the white matter that protects the nerve fibers in the brain, resulting in. Alexander Disease (ALX) What is Alexander disease? Alexander disease (ALX) is a form of leukodystrophy that is characterized by deposits of abnormal proteins called Rosenthal fibers, along with damage to the myelin sheath.. There are four forms of this disease: neonatal, infantile (onset within the first two years of life), juvenile (onset between ages two and 13), and adult (onset from late. magnetic resonance imaging findings are compatible with Alexander disease, then DNA analysis of the GFAP gene should be performed even if the full criteria for a neuroradiological diagnosis are not met. Alexander disease is a rare and slowly progressive leucoence-phalopathy caused by de novo mutations in the GFAP gene

MRI is a crucial examination in the diagnosis and observation of Alexander disease. Under the MRI-based diagnostic criteria proposed by van der Knaap , at least four of the five imaging findings below must be present for the diagnosis: 1) white matter abnormalities (swelling, signal change, atrophy, cysts) with frontal preponderance, 2. Canavan disease is fatal condition; death occurs around 5 years of age. No definite treatment is available for the disease [2]. Generic therapy is being tried [3]. Take home message: Imaging with MRI and MR spectroscopy individually or in conjunction with each other leads to diagnosis of canavan disease in almost all instances Alexander disease is a fatal neurological disorder that causes progressive deterioration of the brain's white matter. The disorder usually affects children under two years, but it can occur in older children or adults. When it begins in infancy, Alexander disease usually causes severe physical and intellectual impairments Specific Imaging Findings. The most common infantile form of Alexander disease (AD) is characterized by frontotemporal white matter abnormalities (CT hypodense, low T1 and high T2 signal) with typical anteroposterior progression pattern, involvement of U-fibers and possible cystic degeneration Alexander disease is most commonly associated with macrocephaly and, on MRI, a leukoencephalopathy with frontal preponderance. The disease is caused by mutation of the GFAP gene

Alexander disease is an autosomal dominant hereditary disease characterized by progressive spastic paraplegia, ataxia, and bulbar symptoms caused by mutations in the glial fibrillary acidic protein ( GFAP ) gene. Previous nation-wide surveillance revealed that the prevalence rate in Japan is estimated at 1 in 2.7 million people.1 Meanwhile, SCA6 is an autosomal dominant spinocerebellar ataxia. Alexander disease (AxD) is a rare, but devastating disease that affects neural development and causes ataxia, seizures, mental retardation, and many more. Previous studies have shown that specific nervous system cells called astrocytes are abnormal in AxD patients, which is caused by a mutation of glial fibrillary acidic protein (GFAP), a. Alexander disease is a rare disorder of the nervous system. It is one of a group of disorders, called leukodystrophies, that involve the destruction of myelin. Myelin is the fatty covering that insulates nerve fibers and promotes the rapid transmission of nerve impulses. If myelin is not properly maintained, the transmission of nerve impulses.

Alexander disease Radiology Reference Article

MRI revealed abnormalities of the medulla and cervical spinal cord typical of adult-onset Alexander disease, and genetic testing showed homozygosity for the p.D295N polymorphic allele in the gene encoding the glial fibrillary acidic protein Alexander disease (ALX) is one of a group of neurological conditions known as the leukodystrophies, disorders that are the result of abnormalities in myelin, the white matter that protects nerve fibers in the brain. ALX is a progressive and usually fatal disease. The destruction of white matter is accompanied by the formation of Rosenthal.

Alexander Disease-an MRI Diagnosis - New Indian Journal of

  1. MRI has been proven to have high sensitivity and specificity in making the diagnosis [1,4,8,9], and is also crucial in the observation of patients with Alexander disease [1,2,9]. It demonstrates diffuse T2W hyperintense white matter signal in the frontal lobes, initially affecting the subcortical white matter, which later progresses posteriorly.
  2. Alexander disease is an extremely rare type of leukodystrophy that results in debilitating mental and physical delays, and in most cases, death by age 10. Two days later Grayson had an MRI.
  3. Alexander Disease This disease belongs to a group of disorders known as the leukodystrophies, which are characterised by the loss of the fatty insulation coverings (myelin sheaths) that surround the nerves in the brain. These fatty coverings are important in allowing nerve impulses to transfer effectively
  4. antly affect the white matter of the CNS. It represents the only known example of a genetic disorder affecting astrocyte cells. This rare disease has multiple clinical forms spanning from newborn to adult
  5. 207 The first Korean case of adult-onset Alexander disease 1,2Yu Jin Jung, 2-3Beom S Jeon 1Department of Neurology, Kyung Hee University Hospital at Gangdong, Seoul; 2Parkinson's Disease Study Group and 3Department of Neurology and Movement Disorder Center, Seoul National University College of Medicine, Seoul, Korea Abstract Alexander disease (AxD) is a progressive neurodegenerative disorder.
  6. Cranial ultrasound (US) findings and magnetic resonance imaging (MRI) are presented in an infant with Alexander's disease. Both methods may help the clinician with the early diagnosis of this rare disease
  7. Magnetic resonance imaging (MRI) of the brain T2 axial image (PMD), and Alexander disease. Both metachromatic leukodystrophy and adrenoleukodystrophy cause bilateral symmetric white matter hyperintensity on T2-weighted MRI with sparing of the subcortical white matter. In addition, adrenoleukodystrophy tends to progress in an orderly fashion.

Magnetic resonance imaging of the brain in affected individuals also revealed striking differences between the infantile and adult forms of Alexander disease. Thus, in contrast to the infantile and juvenile forms of Alexander disease, MRI did not show demyelination of cerebral white matter. In older patients, MRI showed a marked bulbar and. The clinical spectrum of late-onset Alexander disease: a systematic literature review. Download. Related Papers. Adult-onset Alexander disease with typical tadpole brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature

Although recent reports adult-onset Alexander disease by brain have shown that AOAD has a wide clinical variability [3], asymptomatic magnetic resonance imaging for cases incidentally diagnosed by MRI have been rarely reported. preoperative evaluation 1.1 Although adult Alexander disease shows a wide clinical variability, a more frequent pattern can be identified characterized by bulbar or pseudo-bulbar signs, gait ataxia, and spasticity, and including on MRI medulla and cervical cord atrophy If Alexander Disease (AxD) is suspected based on symptoms, patients may have blood tests to rule out other conditions, a magnetic resonance imgaging(MRI) scanto look for the specific pattern of myelin deterioration, and agenetic testto look at the GFAP gene, using a blood or saliva sample

Can MR Imaging Diagnose Adult-Onset Alexander Disease

November Featured Alexander Disease Patient. At 9 months old, Meris White was gagging and retching when her parents attempted to feed her pureed baby foods. Still, at her 9 month doctor visit, pediatricians didn't seem concerned. Meris' parents, Qwynn and Brandon White, weren't convinced that this was a typical delay, so they continued to press. Alexander disease is a very rare, progressively fatal disorder of the central nervous system due to severe astrocytic dysfunction as a result of cytoskeletal protein mutations. Infantile, juvenile and adult forms are described and clinical presentation varies amongst the patients in these three groups. However, growth, psychomotor retardation, and seizures are common features of all three groups

MRI in evaluation of white matter diseases like multiple sclerosis, leukodystrophies, demyelination, dysmyelination, ADEM, leukoencephalopathies, van der knaap disease, ALD, MLD, Krabbes disease, Leighs disease, Vanishing white matter disease, Canavan disease, Alexander disease. Inferior cerebellar peduncles are bright on Tl images, but middle. Objective: To characterize Alexander disease (A×D) phenotypes and determine correlations with age at onset (AAO) and genetic mutation. A×D is an astrogliopathy usually characterized on MRI by leukodystrophy and caused by glial fibrillary acidic protein (GFAP) mutations Alexander disease is a rare neurodegenerative disorder that has not often been described in dogs. None of the existing descriptions include electrodiagnostic or magnetic resonance imaging workup. This is the first presentation of the results of an electrodiagnostic evaluation including electromyography, motor nerve conduction velocity, F-wave, the brainstem auditory evoked response and.

Alexander disease (AxD) is a rare neurodegenerative disorder characterized by white matter degeneration and formation of cytoplasmic inclusions. Glial fibrillary acidic protein (GFAP) mutations have been reported in various forms of AxD since 2001. However, a definitive diagnosis remains difficult because of uncertain prevalence, and different clinical features seen in infantile AxD and adult. Alexander disease Alexander disease is a rare, progressive, leukodystrophy that usually becomes apparent during infancy or early childhood but juvenile and adult onset forms have also been reported. Alexander disease is characterized by degenerative changes of the white matter of the brain caused by a lack of normal amounts of myelin Magnetic resonance imaging (MRI) demonstrated diffuse, confluent high signal predominantly in frontal white matter. These imaging modalities, particularly cranial ultrasound and MRI, may be useful tools in the diagnostic evaluation of children with degenerative neurologic disease, megalencephaly, and suspected Alexander's disease Alexander disease (AD) is a rare leukodystrophy of the central nervous system of unknown etiology. AD is characterized by progressive failure of central myelination and the accumulation of Rosenthal fibers in astrocytes, and is inevitably lethal in nature. Symptomatically, AD is associated with leukoencephalopathy with macrocephaly, seizures, and psychomotor retardation in infants, and usually.

Roentgen Ray Reader: Dysmyelinating Disorders

MRI diagnosis of Alexander disease Muralidharan South

Pareyson D et al: Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature. Brain. 131 (Pt 9):2321-31, 2008. Tang G et al: Adaptive autophagy in Alexander disease-affected astrocytes. Autophagy. 4 (5):701-3, 2008 Alexander's disease is a leucodystrophy that usually presents in early childhood, but can infrequently arise in adults. It is characterised pathologically by megalencephaly, demyelination, and the presence of numerous Rosenthal fibres. Most cases have been shown to be due to mutations in the gene encoding glial fibrillary acidic protein. In rare instances, numerous Rosenthal fibres have been. Background Alexander disease, an autosomal dominant leukodystrophy, is caused by missense mutations in GFAP . Although mostly diagnosed in children, associated with severe leukoencephalopathy, milder adult forms also exist. Methods A family affected by adult-onset spastic paraplegia underwent neurological examination and cerebral MRI. Two patients were sequenced by whole exome sequencing (WES) J. R. Gorospe, S. Naidu, A. B. Johnson, V. Puri, G. V. Raymond, S. D. Jenkins, R. C. Pedersen, D. Lewis, P. Knowles, R. Fernandez, D. De Vivo, M. S. Van der Knaap, A.

Atypical MRI features in familial adult onset Alexander

Video: Alexander disease: ventricular garlands and abnormalities

MRI is also useful in detecting and quantifying liver disease, as it may detect cirrhotic changes with fibrosis, regenerative nodules, portal hypertension, and fatty changes. 8 One study identified three MRI findings that reliably distinguished CFLD patients from a control group Maria Callas Commendatore OMRI (December 2, 1923 - September 16, 1977) was an American-born Greek soprano who was one of the most renowned and influential opera singers of the 20th century. Many critics praised her bel canto technique, wide-ranging voice and dramatic interpretations. Her repertoire ranged from classical opera seria to the bel canto operas of Donizetti, Bellini and Rossini. I went to the neurosurgeon yesterday. I have been experiencing more and more pain in my lower back and legs. After an MRI and a CT scan these are my options. My L2/3, L3/4 and L5/S1 are degenerating... Adult-onset Alexander's disease is a rare leukodystrophy that can present later in life in a variety of ways, often mimicking more common neurodegenerative conditions. We present two cases with novel mutations, diagnosed from their characteristic MR scan findings. Even in much older people, clinicians should have a high clinical suspicion if there are typical imaging findings Alexander disease (AD) is an autosomal dominant progressive astrogliopathy caused by pathogenic variants in glial fibrillary acidic protein (GFAP).1 Clinical presentation of AD includes infantile AD, characterized by psychomotor retardation, seizures, pyramidal signs, and megalencephaly; juvenile AD, characterized by bulbar/pseudobulbar signs, hyperreflexia, lower limb spasticity, ataxia, loss.

Neuroglial cyst: MRI demonstrates a cystic lesion in theMri evaluation of pediatric white matter lesions

A diagnosis of Alexander disease is usually based on radiologic findings and/or genetic test results in an individual who has symptoms suggestive of this condition. Radiologic studies that may aid in diagnosis include magnetic resonance imaging (MRI), a computerized tomography (CT) scan, or a head ultrasound A diagnosis of Alexander disease is usually based on radiologic studies including MRI, CT scan or Ultrasound. An MRI of an individual with the infantile form typically reveals white matter loss that involves the frontal lobes of the brain, abnormalities of the basal ganglia and thalamus, possibly, enlargement of the ventricles

An MRI (magnetic resonance imaging) Leukodystrophy Center is actively studying disease progression and outcomes of patients with leukodystrophies such as Alexander disease in order to better understand the course of these diseases and identify new treatment options Alexander disease is a fatal neurological illness characterized by white-matter degeneration and formation of Rosenthal fibers, which contain glial fibrillary acidic protein as astrocytic inclusion. Alexander disease is mainly caused by a gene mutation encoding glial fibrillary acidic protein, although the underlying pathomechanism remains unclear Alexander Disease - 2 min. Adrenoleukodystrophy - 3 min. Leukoencephalopathy with Cysts and Calcification - 3 min. MRI Online is a premium online continuing education resource for practicing radiologists to expand their radiology expertise across all modalities, read a wide variety of cases, and become a more accurate, confident, and. The symptoms and the MRi lead him to suggest that maybe it was Alexander's Disease. He wanted to be sure so he suggest I had blood drawn and sent to Maryland to a lab to confirm it. We were told that there would be a wait. Two months later the phone rang and it was the lab and sure enough, it was Alexander's disease

Magnetic resonance imaging (MRI) of the brain showed tadpole-like atrophy of the brainstem, as a result of a marked thinning of the medulla oblongata, cervical spinal cord, and midbrain tegmentum with preserved pontine base . Based on the clinical and MRI findings, a diagnosis of adult-onset Alexander disease (AOAD) was considered The first test performed for the diagnosis of Alexander disease is often an MRI. An MRI is an imaging technique that uses magnetic fields and radio waves to visualize internal organs of the body including the brain. Healthcare professionals may use an MRI to identify damage to the white matter or other structures of the brain which can be. servation of Alexander disease. Under the MRI-based diagnostic criteria proposed by van der Knaap [2], at least four of the five imaging findings below must be present for the diagnosis: 1) white matter abnormalities (swelling, signal change, atrophy, cysts) with frontal pre Other signs suggestive include hyperintensities on T2-weighted images and postcontrast enhancement particularly in patients aged less than 40 years.70 The MRI findings in adult onset Alexander disease differ from those in the infantile/juvenile form which include: extensive white matter change with frontal predominance, a periventricular rim.

E. MRI of brain also shows caudate atrophy ( D ) 20. Which one of the following diseases has the characteristic MRI image as shown in the figure below? A. Spinocerebellar ataxia type 2 B. Multiple system atrophy C. Ataxia telangiectasia D. Alexander disease E. Friedreich Ataxia ( A ) 21 A search of the glial fibrillary acidic protein gene revealed the previously unreported mutation Y242N. The same MRI findings and genetic mutation were confirmed in her 38-year-old son. Adult onset Alexander disease is a rare condition with very few reported familial cases. We hereby report this case with a discussion of the literature Alexander disease is a progressive neurological disease that is genetically transmitted. It almost exclusively affects infants and children. Because of a faulty gene, the tissue of the cerebellum becomes replaced by eosinophilic fibres. It is very rare, with about 500 reported cases. Patients with the condition start by losing motor function and, eventually, even the ability to speak. It can.

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There is no sparing of the subcortical U fibers in Alexander disease. The cerebellum is less often affected than in other leukodystrophies. MR findings classically demonstrate increased signal intensity on the T2-weighted images in the frontal white matter .The occipital white matter and cerebellum are usually spared alexander disease Alexander Disease (AD) is a rare leukodystrophy, which is characterized by accumulation of Rosenthal fibers (RF) in astrocytes. Patients with the more common infantile form of AD present in the first 2 years of life with psychomotor retardation, megalencephaly , spasticity and seizures The case describes a 25-year-old Caucasian female diagnosed with Alexander's disease (AxD) as an outpatient after extensive inpatient workup. Her presenting complaints included incontinence, clumsiness, seizures, dysphagia, and dysarthria. She was also found to have pancytopenia and dysautonomia. A full neurologic and hematologic workup yielded very little results, until a thorough. The periventricular and brainstem white matter T2 signal hyperintensities are consistent with expected MRI findings in Alexander's disease. (1) It was of interest to note that while her clinical symptoms have continued to worsen since onset, albeit slowly, the extent of the characteristic white matter hyperintensities on MRI has remained.