Multiphasic disseminated encephalomyelitis associated with herpes virus infection in a patient with TLR3 deficiency.

We report a case of a 14-year-old girl that presented headache, amaurosis, drowsiness, fever, vomiting and diffuse reduction of muscle strength. She had been diagnosed with ADEM one year before and had a previous diagnosis of Toll-Like 3 receptor deficiency. Cerebrospinal fluid analysis revealed pleocytosis (28/mm3, 12/mm3 red blood cells, 70% lymphocytes cells, 2% monocytes cells, 28% neutrophils), normal total protein (38 pg/mL) and normal glucose level (53/mm3). Studies for CSF oligoclonal bands and serum anti-MOG were negative but polymerase chain reaction (PCR) testing was positive for herpes virus 1. In the first ADEM episode, PCR for herpes virus was also positive. Magnetic resonance imaging (MRI) of the brain revealed disseminated hyperintense lesions on T2-weighted and FLAIR images in the white matter of frontal, parietal and temporal lobes, corresponding to extensive asymmetric areas of demyelination that produced mass effect and gadolinium enhancement. Electroencephalography demonstrated irregular diffuse and generalized slow-wave activity with predominance in frontal region. The diagnosis of multiphasic disseminated encephalomyelitis (MDEM) triggered by herpes simplex virus was made. Herpes virus is a neurotropic virus that can cause a wide variety of neurological infection-triggered autoimmune disorders and that is particularly damaging to the central nervous system in situations of impaired immune system. TLR3 is expressed in astrocytes and dendritic cells of the central nervous system and is essential for natural immunity to herpes simplex. TLR3-deficient patients have already been described with herpes simplex encephalitis. TLR3 deficiency may predispose and explain autoimmune and demyelinating manifestations induced by herpes virus. The association of multiphasic disseminated encephalomyelitis triggered by herpes virus in a patient with TLR3 deficiency has not been previously reported in the literature.

Leukoencephalopathy with vanishing white matter: report of four cases from three unrelated Brazilian families.

Four patients with leukoencephalopathy with vanishing white matter from three unrelated Brazilian families are reported. In all cases the initial symptoms occurred in the three first years of life. In three cases the onset was acute and at least in two patients the involvement of the white matter preceded the clinical symptoms. Only cerebellar and pyramidal signs were present and persisted throughout the evolution. An episodic course with worsening of the symptoms during febrile illnesses was noted in one patient. In three patients a significant deceleration of the head growth was noted. In one family, brother and sister were affected but the twin brother of the boy was free from the disease. In another family, the patient had a sister who died at 13 years of age from an identical disease not diagnosed at that time. In one family, the parents were first cousins. In all patients, serial magnetic resonance imaging and magnetic resonance spectroscopy showed the characteristic picture of the involvement of the white matter with increasing signal intensity close to that of the cerebrospinal fluid.