Unusual first instance of Cache-disappearing white matter syndrome resembling herpetic encephalitis detected in a 6-year-old child: Case study and abridged review
A six-year-old child, with no prior medical history, was recently admitted to the emergency department after a sudden loss of consciousness and focal epileptic crises. The child's symptoms, including epileptic seizures, signs of intracranial hypertension, hypotonia, and profound loss of consciousness, were indicative of Acute attacks of Vanishing White Matter (VWM) syndrome.
Upon further investigation, the child was found to have had a recent herpes virus infection, as evidenced by peribuccal skin lesions eight days prior to admission. The diagnostic tool of choice, cerebral magnetic resonance imaging (MRI), revealed the telltale signs of VWM syndrome: diffuse, symmetrical white matter involvement that did not spare U-fibers. This MRI result, combined with the identification of the EIF2B5 gene mutation, confirmed the diagnosis.
VWM syndrome is a rare leukodystrophy, primarily affecting the white matter of the central nervous system. It is caused by mutations in genes encoding subunits of the eukaryotic translation initiation factor 2B (eIF2B) complex. This condition can lead to an increased risk of visual and cognitive disorders, cerebellar ataxia, and the need for long-term monitoring.
In children, the clinical presentation of VWM syndrome is more severe than in adults, who typically experience unexplained headaches and psychiatric symptoms. In some cases, affected women may also experience a combination of leukoencephalopathy and primary amenorrhea or premature ovarian failure, giving rise to the ovario-leukodystrophy syndrome. As the disease progresses, MRI shows progressive rarefaction and cystic degeneration of the white matter.
Currently, there are no specific treatments for VWM syndrome that are widely recognized. The primary approach involves managing symptoms and supporting the patient's quality of life through physiotherapy, occupational therapy, and other supportive measures. Researchers are exploring novel therapeutic strategies, including the investigation of glial involvement and potential therapies to reverse white matter damage.
Two promising molecules for improving the quality of life and prognosis in individuals with VWM are Guanabenz and Fosigotifant. However, it is important to note that these molecules are not mentioned in the context of VWM treatment in the available literature, and their use in VWM management remains experimental.
The child's in-hospital evolution was favorable, with discharge from the ICU after ten days without sequelae and with good clinical evolution. It serves as a reminder of the importance of timely diagnosis and appropriate management of this rare but potentially debilitating condition. For accurate and up-to-date information on VWM treatment, consulting with a healthcare professional or staying updated with clinical research is recommended.
Science plays a crucial role in the diagnosis and management of neurological disorders like Acute attacks of Vanishing White Matter (VWM) syndrome, as demonstrated by the child's case. Magnetic Resonance Imaging (MRI), a diagnostic tool used in health-and-wellness, revealed the telltale signs of VWM in the child's brain. Although therapies-and-treatments for VWM are scarce, researchers are constantly exploring novel approaches, such as the investigation of glial involvement and potential therapies to reverse white matter damage. This underscores the importance of ongoing medical-conditions research and collaboration in the field of health-and-wellness.
