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/mm, 12/mm red blood cells, 70% lymphocytes cells, 2% monocytes cells, 28% neutrophils), normal total protein (38 pg/mL) and normal glucose level (53/mm).

Proton MR spectroscopy and imaging of a galactosemic patient before and after dietary treatment.

We describe how proton MR spectroscopy ((1)H-MR spectroscopy) was useful in elucidating the diagnosis of galactosemia in an undiagnosed 6-month-old infant. In vivo (1)H-MR spectroscopy of the brain showed a doublet at 3.7 parts per million, which was identified as galactitol (Gal-ol) by in vitro (1)H-MR spectroscopy of the urine.

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.