What is Subacute Necrotizing Encephalopathy?
Subacute Necrotizing Encephalopathy which is also known by the name of Leigh Syndrome is an extremely rare inherited experimental condition which is characterized by gradual degeneration of the central nervous system meaning that there is gradual and progressive deterioration in function of the encephalon , spinal corduroy , and the visual nerves .
The other symptoms of Subacute Necrotizing Encephalopathy may gift themselves by the clock time the tike is three calendar month of age and pass on step by step . In some case , symptom of Subacute Necrotizing Encephalopathy may not appear until the kid is two to three years of age or even more .
The first presenting symptom of Subacute Necrotizing Encephalopathy is gradual deterioration of the neurologic operation of the nipper with psychomotor lag where the child tends to suffer the antecedently produce motor skills before the onset of symptom .
to boot , he child suffering from Subacute Necrotizing Encephalopathy will lose interestingness in consume due to piteous appetence and as the disease shape advances the minor starts to go through bouts of seizures , generalized weakness , hypotonicity , and most significantly lactic acidosis which tends to vitiate the kidney and respiratory function .
The source cause of Subacute Necrotizing Encephalopathy is a deficiency in the mitochondrial enzymes which is responsible for Department of Energy production namely enzymes of mitochondrial respiratory chain complex or the pyruvate dehydrogenase coordination compound .
Subacute Necrotizing Encephalopathy is an autosomal recessive upset intend that two copy of the defective factor from each parent is required for the exploitation of Subacute Necrotizing Encephalopathy .
What are the Causes of Subacute Necrotizing Encephalopathy?
As submit above , the root cause for Subacute Necrotizing Encephalopathy is the deficiency of enzymes creditworthy for energy production namely the mitochondrial respiratory chain enzymes or the enzyme components of the pyruvate dehydrogenase coordination compound .
The main grounds for the deficiency of these enzyme is mutation in sure factor . The mutations of these defective genes are also term as genetic heterogenicity . Subacute Necrotizing Encephalopathy follows an autosomal recessive trait think of that copies of the defective gene one from each parent is required for a small fry to inherit Subacute Necrotizing Encephalopathy , although there have been some pillow slip where no genetic cause has been found for the maturation of Subacute Necrotizing Encephalopathy .
In Subacute Necrotizing Encephalopathy , the genetical genetic mutation in mitochondrial desoxyribonucleic acid start out to interfere with the energy source in the mental capacity cell which are responsible for motor function . As a result of this hindrance , there is harm in the power of the cadre to perform their procedure fully result in gradual degeneration of the brain cell resulting in development of Subacute Necrotizing Encephalopathy .
What are the Symptoms of Subacute Necrotizing Encephalopathy?
The symptoms of Subacute Necrotizing Encephalopathy ordinarily start out by the metre the child get through the third calendar month of life although in some showcase symptoms may not appear even after the child reaches 2 to 3 eld of old age but once the symptoms appear they tend to progress rapidly .
The first sign of the zodiac of Subacute Necrotizing Encephalopathy is the loss of the ability of the child to give suck or what is called as a poor sucking response . This is then followed by red of motor skills and question control .
As the condition advances , there is gradual loss of appetite , persistent vomiting , and neurologic disorders in the form of seizures and loss of muscle shade or hypotonicity . The most important symptom of Subacute Necrotizing Encephalopathy is the ontogenesis of lactic acidosis which results in respiratory and kidney abnormality which may lead to potentially serious tortuousness .
How is Subacute Necrotizing Encephalopathy Diagnosed?
There are various test available which can corroborate the diagnosis of Subacute Necrotizing Encephalopathy . The diagnosis starts with a clinical valuation of the patient and chronicle take to set as to when the symptoms started and the severity of the symptom .
The doc will also inquire about any regression of milepost that the fry may have achieved before the onset of symptoms . Once Subacute Necrotizing Encephalopathy is suspected , then advanced radiological studies of the brain will be recommended which in casing of Subacute Necrotizing Encephalopathy will clear show mental defectiveness in sure expanse of the brain like the basal ganglion or brainstem . This will further fortify a diagnosis of Subacute Necrotizing Encephalopathy .
Laboratory investigation and blood studies will support the presence of lactic acidosis which is a classic mark of Subacute Necrotizing Encephalopathy . An enzyme assay will be then done which will distinctly show a deficiency in the enzymes pyruvate dehydrogenase complex confirming the diagnosis of Subacute Necrotizing Encephalopathy .
How is Subacute Necrotizing Encephalopathy Treated?
There is no clear-cut cut treatment for Subacute Necrotizing Encephalopathy and treatment is purely supportive and symptomatic . The treatment for this experimental condition requires a multidisciplinary plan of attack from unlike specialties include baby doctor , neurologists , cardiologist , neurosurgeons , physical and occupational therapists .
The most favorite handling for Subacute Necrotizing Encephalopathy by far is thiamine disposal . This may provide temporary advance in symptom and may slow down the progression of disease summons .
to boot , since Subacute Necrotizing Encephalopathy is caused due to a lack in pyruvate dehydrogenase enzyme complex , thus a diet fat in fat and down saccharide may also be urge as an option to address some of the symptoms of Subacute Necrotizing Encephalopathy .
forcible and occupational therapy may also be utilitarian for strengthening the muscles and improving the tone of the muscles . Apart from this , only supportive intervention is available for Subacute Necrotizing Encephalopathy .
What is the Prognosis of Subacute Necrotizing Encephalopathy?
regrettably , the overall prognosis for children with Subacute Necrotizing Encephalopathy is extremely pitiful . youngster who have deficiency in pyruvate dehydrogenase deficiency and have impaired mitochondrial complex IV unremarkably yield within three to four years as a upshot of Subacute Necrotizing Encephalopathy .
