Alpers Syndrome Where
alpers syndrome where
Alpers | Diesease Disease
Alpers' disease:
Alpers' disease, also called Alpers' syndrome, progressive sclerosing poliodystrophy, 
and progressive infantile poliodystrophy, is a progressive degenerative disease of the central nervous system that occurs mostly in infants and children. It is an autosomal recessive disorder that is sometimes seen in siblings. Alpers' disease is caused by certain genetic mutations in the POLG gene.
What is Alpers' Disease?
Alpers' disease is a rare, genetically determined disease of the brain that causes progressive degeneration of grey matter in the cerebrum. 
The first sign of the disease usually begins early in life with convulsions. Other symptoms are developmental delay, progressive mental retardation, hypotonia (low muscle tone), spasticity (stiffness of the limbs), dementia, and liver conditions such as jaundice and cirrhosis that can lead to liver failure. Optic atrophy may also occur, often causing blindness. Researchers believe that Alper's disease is caused by an underlying metabolic defect. A number of individuals with Alper's disease have mutations in the "polymerase-gama" gene, which results in the depletion of mitochondrial DNA. Researchers suspect that Alpers' disease is sometimes misdiagnosed as childhood jaundice or liver failure, since the only method of making a definitive diagnosis is by autopsy or brain biopsy after death.
Learn more
S.S.L. Chan
Is there any treatment?
There is no 
cure for Alpers' disease and no way to slow its progression. Treatment is symptomatic and supportive. Anticonvulsants may be used to treat the seizures. Valproate should be used with caution since it can increase the risk of liver failure. Physical therapy may help to relieve spasticity and maintain or increase muscle tone.
What is the prognosis?
The prognosis for individuals with Alpers' disease is poor. Those with the disease usually die within their first decade of life. Continuous, unrelenting seizures often lead to death. Liver failure and cardiorespiratory failure may also occur.
A case of cholesterol emboli syndrome treated with iloprost/Iloprost ile tedavi edilen bir kolesterol emboli sendromu olgusu.(Case Report/Olgu Sunumu): ... of Cardiology (Anadolu Kardiyoloji Dergisi)Learn more
Berrin Karadag
Cause:
The exact cause is unknown but we believe it is due to a biochemical fault which causes damage to, and loss of, cells in the grey matter of the brain. 
The progressive damage to the brain causes epilepsy and increasing physical and mental problems. This is because of increasing blockages in the messages within the brain and from the brain to other parts of the body.
Children with Alpers' disease usually develop symptoms between the ages of three months and five years old. Initially, the first symptom early in life is seizures (convulsions). These children tend to be hypotonic (unable to achieve normal muscle tone) and their limbs seem to be stiff. This is usually followed by the failure to reach cognitive and developmental milestones. Mental retardation is progressive in these children.Among the most devastating features of this disorder is the progressive dementia. In children with Alpers' disease, mental deterioration can occur rapidly. The pathological nature of the defect involves an area of the brain called the cerebrum in which a specific part (the gray matter) is affected. Spastic quadriplegia (inability to use and control movements of the arms and legs) can develop in the later stages of the disorder. Blindness is also observed, and this is usually due to a condition called optic atrophy. In optic atrophy, the optic nerve degenerates, resulting in the inability to process visual information from the eye to the brain.The liver is also affected. Liver conditions that these children experience are jaundice or complete liver failure in more severe cases.
Diagnosed:
Alpers' disease may be suspected from your child's symptoms together with an electroencephalogram (EEG) 
which often shows a distinctive brain-wave pattern. In the later stages of the disease, examining a piece of liver (biopsy) may be helpful but, unfortunately, confirmation may not be possible until after death if a post-mortem examination of the brain is done. Alpers' disease is a rare disorder. Due to complications related to the diagnosis of Alpers' disease, it is difficult to estimate how often it occurs in the population. Both genders are affected with equal frequency.
Presentation:
First signs of the disease, which include intractable seizures and failure to meet meaningful developmental milestones, usually occur in infancy, 
after the first year of life, but sometimes as late as the fifth year. Primary symptoms of the disease are developmental delay, progressive mental retardation, hypotonia (low muscle tone), spasticity (stiffness of the limbs) possibly leading to quadriplegia, and progressive dementia. Seizures may include epilepsia partialis continua, a type of seizure that consists of repeated myoclonic (muscle) jerks. Optic atrophy may also occur, often leading to blindness. Deafness may also occur. And, although physical signs of chronic liver dysfunction may not be present, many patients suffer liver impairment leading to liver failure. While some researchers believe that Alpers' disease is caused by an underlying mitochondrial metabolic defect of POLG,[2] no consistent defect has been identified. Pathologically, there is status spongiosus of the cerebral grey matter.
Treatment:
There is no cure for Alper
s' disease and, currently, no way to slow its progression. Treatment is symptomatic and supportive. Anticonvulsants may be used to treat the seizures. However, caution should be used when selecting valproate as therapy since it may increase the risk of liver failure. Physical therapy may help to relieve spasticity and maintain or increase muscle tone.
0 コメント:
コメントを投稿