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Childhood leukoencephalopathies are a broad class of diseases, which are extremely rare. The treatment and classification of these disorders are both challenging. Nearly half of children presenting with a leukoencephalopathy remain without a specific diagnosis. Leukoencephalopathy with thalamus and brain stem involvement and high lactate (LTBL) is a newly described childhood leukoencephalopathy caused by mutations in the gene encoding a mitochondrial aminoacyl-tRNA synthetase specific for glutamate, EARS2 Magnetic resonance images show a characteristic leukoencephalopathy with thalamic and brain stem involvement. Here, we report a different clinical course of LTBL supported by typical MRI features in a Turkish patient who presented with a history of failure to walk. The EARS2 gene mutation analysis identified a c.322C>T transition, predicting a p.R108W change. This is the first reported early-onset mild type LTBL caused by a homozygous EARS2 mutation case in the literature.

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Although the common clinical findings of viral infections are fever and various skin rashes (maculopapular, vesicular petechial etc.), they may cause alterations in peripheric blood cell counts such as bicytopenia, pancytopenia. Especialy in recent years, Crimean-Congo hemorrhagic fever (CCHF) has started to be considered primarily in patients with complaints of fever, petechia and bicytopenia in Turkey. However, some rare viral agents may also cause the same findings. In this case, we reported a patient with sandfly fever, initially misdiagnosed as CCHF because of the clinical and laboratory findings mentioned above.