DIAGNOSIS
Numerous countries include globoid cell leukoencephalopathy screening as part of the standard newborn screening. A blood examination is utilized to screen for this disease. Imaging studies are another common approach to identifying globoid cell leukoencephalopathy. An MRI scan may assist in detecting changes in your child’s brain that indicate globoid cell leukoencephalopathy. MRI is beneficial in detecting brain lesions in this disease. These tests may also assist in diagnosing the illness in its juvenile and adult stages.
The medical practitioner will also do a physical test and ask about the signs and symptoms.
The following tests might be performed:
- Nerve conduction velocity
- Testing for the GALC gene deficiency genetically
- Total protein in CSF
TREATMENT
Unluckily, there is no treatment for globoid cell leukoencephalopathy, which is typically fatal. Hematopoietic stem cell transplant (HSCT) is one therapy that may decrease the course of this disease.
A stem cell transplant enables your system to replace diseased cells with healthy or normal ones. Hematopoietic cells are baby cells that have the potential to grow into all kinds of blood cells, like red blood cells, platelets, and white blood cells.
HSCT involves transplanting hematopoietic cells from a healthy donor to a youngster with globoid cell leukoencephalopathy. HSCT assists your kid’s body in populating their brain with healthy cells and high GALC enzyme activity. However, HSCT functions best if administered before the onset of symptoms.
