What is Fibrinoid Leukodystrophy?
Fibrinoid Leukodystrophy which is also known by the name of Alexander Disease is an passing rare but potentially fateful disorder of the mental capacity in which there is extremely depressed production of myelin which is an out layer that protect the spunk fibre which result in the nerve fiber getting exposed affecting their power to transmit signals to and from the brain normally .
antecedently , only infants and young children were given this diagnosis but with the advancement of medical applied science this disease has been found to hap in somebody among all age groups .
The deficit in myelin output in individual with Fibrinoid Leukodystrophy is seen in the cerebrum in majority of the eccentric , although in some cases the bloodless matter may not be severely move due to Fibrinoid Leukodystrophy especially in patients who develop this disease at a much late leg in life sentence .
The primary presenting characteristic in almost all the casing of Fibrinoid Leukodystrophy is the presence of Rosenthal Fibers in sure areas of the brain and spinal cord which almost clinch the diagnosing of Fibrinoid Leukodystrophy .
What are the Causes of Fibrinoid Leukodystrophy?
Majority of the cases of Fibrinoid Leukodystrophy is caused due to sport in cistron GFAP . This gene encodes a protein called glial fibrillary acidic protein which is found in the astrocyte within the primal nervous scheme .
This follow an autosomal dominant pattern of inheritance meaning that one copy of the wrong gene is enough for a child or an soul to develop Fibrinoid Leukodystrophy . In some cases , a de novo mutation can also cause Fibrinoid Leukodystrophy .
In some case the cause of the condition is not known but the genetic mutation is trust to occur during embryonal development causing the shaver to have Fibrinoid Leukodystrophy .
What are the Symptoms of Fibrinoid Leukodystrophy?
Fibrinoid Leukodystrophy was antecedently subdivide into three figure which were the childish , juvenile , and adult but now it is part into two subdivisions which are type I and type II .
The case I build of Fibrinoid Leukodystrophy occurs in tike with onset of symptom by the age of 4 and type II with symptom onset at any eld in spirit after the historic period of 4 .
For type I form of Fibrinoid Leukodystrophy , the symptom include nonstarter to thrive , developmental delays , behavioural abnormalities , psychomotor impairment , and capture . to boot , the child may show macrocephaly , inordinate muscle clumsiness , ataxia , dysphagia , problems with breathing and talking .
For case II Fibrinoid Leukodystrophy , there will be simple regression of development , adult onset seizures , and gradual mental decline in some cases . Gait ataxia may also be control in some individuals with type II Fibrinoid Leukodystrophy .
How is Fibrinoid Leukodystrophy Diagnosed?
In the previous times , the presence of Rosenthal Fibers in the mentality was clear cut grounds that the patient was suffering from Fibrinoid Leukodystrophy but that theory has been put to rest as there are many other brain and neurological disorders where there is mien of Rosenthal Fibers on mentality biopsy .
As of now , MRIevidence is taken for the diagnosing of case I Fibrinoid Leukodystrophy in which the MRI will show clear damage to the white matter but this psychometric test is not so positive for case II Fibrinoid Leukodystrophy as in such sheath there is short to no modification in the white matter of the encephalon even though there may be changes get wind in the cerebellum and brain-stem .
The best way to diagnose this condition is through a genic test which will clearly show mutation in GFAP gene which will virtually confirm the diagnosis of Fibrinoid Leukodystrophy .
How is Fibrinoid Leukodystrophy Treated?
The discourse for Fibrinoid Leukodystrophy is diagnostic and supportive . seizure can be treated by anticonvulsants . Walking care may be utile for individuals with ambulant dysfunction . Apart from this , the discourse is purely supportive for patient with Fibrinoid Leukodystrophy .
