Most diagnosis occurs in the early years of life around 2 to 6 years old. There have been cases in which onset and diagnosis have occurred late into adulthood. Those with onset at this time have different signs, particularly the lack of cognitive deterioration. Overall, detection of adult forms of<unk>  is difficult as MRI was not a common tool when they were diagnosed. Common signs to look for include chronic progressive neurological deterioration with cerebellar ataxia, spasticity, mental decline, decline of vision, mild epilepsy, hand tremor, the ability to chew and swallow food becomes difficult, rapid deterioration and fibrile infections following head trauma or fright, loss of motor functions, irritability, behavioural changes, vomiting, and even coma. Those who go into coma, if they do come out usually die within a few years. The diagnosis can be difficult if the physician does not take an MRI. Case report on diagnosis of adult-onset<unk>  The individual was examined at age 32, but he stated that he started noting differences 5 years before. He noticed sexual impotency, social isolation, unexplained aggression and sadness, loss of motivation, inert laughs, auditory hallucinations, thought insertion, delusions, and imperative commenting. He showed very minimal physical impairments, commonly seen in child-onsets. However, his MRI showed characteristic signs of<unk>  disease. MRI The MRI of patients with<unk>  shows a well defined leukodystrophy. These MRIs display reversal of signal intensity of the<unk><unk>  in the brain. Recovery sequences and holes in the<unk><unk>  are also visible. Over time, the MRI is excellent at showing rarefaction and cystic degeneration of the<unk><unk>  as it is replaced by fluid. To show this change, displaying<unk><unk>  as a high signal (T2-weighted), proton density, and Fluid attenuated inversion recovery (FLAIR) images are the best approach. T2-weighted images also displaying cerebrospinal fluid and rarefied/cystic<unk><unk> . To view the remaining tissue, and get perspective on the damage done (also helpful in determining the rate of deterioration) (T1-weighted), proton density, and FLAIR images are ideal as they show radiating stripe<unk> ns in the degenerating<unk><unk> . A failure of MRI images is their ineffectiveness and difficulty in interpretation in infants since the brain has not fully developed yet. Though some<unk> ns and signs may be visible, it is still difficult to conclusively diagnose. This often leads to misdiagnosis in infants particularly if the MRI results in equivocal<unk> ns or because of the high water content in infants' brains. The easiest way to fix this problem is a follow-up MRI in the following weeks. A potentially similar appearance of MRI with<unk><unk>  abnormalities and cystic changes may be seen in some patients with hypomelanosis of Ito, some forms of Lowe's (oculocerebrorenal) disease, or some of the mucopolysaccharidoses. Common misdiagnosis Often with<unk> , the lack of knowledge of the disease causes a misdiagnosis among physicians. As<unk>  is a member of the large group of leukodystrophy syndromes, it is often misdiagnosed as another type such as metachromatic leukodystrophy. More often than not, it is simply classified as a non-specific leukodystrophy. The characteristics of the brain upon autopsy are often very similar to atypical diffuse sclerosis, such as the presence of fibrillary astrocytes and scant sudanophilic lipids. Adult-onset<unk>  disease can present with psychosis and may be hard to differentiate from schizophrenia. Common misdiagnosis from misinterpreting the MRI include asphyxia, congential infections, metabolic diseases. Multiple sclerosis is often a misdiagnosis, but only in children due to its neurological characteristics, onset in early years, and MRI abnormalities. However, there are many differences between the two diseases. The glial cells express a loss of myelin. This loss of myelin is different from that seen in other diseases where hypomyelination occurs. In<unk> , the cells never produce the normal amounts, whereas with diseases like MS, the cells' normal amounts are deteriorated. Also, with MS, the demyelination occurs due to inflammation, which is not the case in<unk> . Cell differences include a lower penetration of the macrophages and microglia, as well as the lack of T cells and B cells in<unk> . Finally, patients with MS have widespread demyelination, but those with<unk>  only express demyelination in a localized area. Some atypical forms of multiple sclerosis (multiple sclerosis with cavitary lesions) can be specially difficult to differentiate but there are some clues in MRI imaging that can help.
Leukoencephalopathy with vanishing white matter
Leukoencephalopathy with neuroaxonal spheroids
Megalencephalic leukoencephalopathy with subcortical cysts
Neurodegeneration with brain iron accumulation
Diffuse intrinsic pontine glioma
Hypertensive leukoencephalopathy
Wernicke encephalopathy
Camel spongiform encephalopathy