ADULT ONSET HEREDITARY DIFFUSE LEUCOENCEPHALOPATHY WITH AXONAL SPHEROIDS (HDLS): FIRST CASE REPORT IN SOUTH AMERICA

Objective: To report a case of an adult onset patient with HDLS, with rapidly progressive evolution. Background: Hereditary autosomal dominant as well as sporadic inheritance disorder, age of onset: 39+-15 years. Clinical manifestations: cognitive impairment, motor dysfunction, parkinsonism, seizures. In 2011, the colony-stimulating factor 1 receptor gene (CSF1R) was identified as the mutated gene. MRI (Magnetic Resonance Imaging) show periventricular subcortical white matter damage, predominantly frontal and parietal, bilateral, asymmetrical. Corpus Callosum is involved, as well as corticospinal tract, atrophy and restriction in DWI (Diffusion Weighted Imaging). The histopathological features are notable loss of myelin, axonal damage and presence of axonal spheroids. Design/Methods: Male, 28 years, began with gait disturbance and progressive left-sided hemiplegia. Then, right moderate hemiparesis. Dysarthria, desorientation and cognitive decline along one year. Results: Normal results in serum tests. Cerebrospinal fluid: 330 cells, lymphocytic preponderance, protein level 77mg/dl, viral tests and OCB (oligoclonal bands): negative. Brain MRI: extensive, confluent, bilateral T2 and FLAIR hyperintensities in subcortical frontal and parietal white matter, no gadolinium enhance, restriction in DWI, cortical atrophy. MMSE (Mini Mental State Examination) : 21/30, neurocognitive test: low performance in attention, episodic verbal memory, executive functions and abstract reasoning. Moderate depression. Brain biopsy with optic and electron microscopy: presence of axonal spheroids. Genetic testing: mutation in gene CSF1R: c.2442+1Gu003eT. Conclusions: Hereditary Diffuse Leucoenephalopathy with axonal Spheroids is an autosomal dominant entity that we must suspect when there is cognitive impairment or motor symptoms, familiar history, MRI with hyperintensities in white matter in T2 and FLAIR, predominantly bilateral, frontal, sometimes restriction in DWI. Neuropathology shows presence of axonal spheroids, and genetic testing with mutations in CSF1R gene. It is important to advise genetic counseling for asymptomatic adult relatives. Disclosure: Dr. TKACHUK has nothing to disclose. Dr. Pacio has nothing to disclose. Dr. BUSTOS has nothing to disclose. Dr. CRESPO ARIZMENDI has nothing to disclose. Dr. TONEGUZZO has nothing to disclose. Dr. Paviolo has nothing to disclose. Dr. Calandra has nothing to disclose. Dr. TORANZO has nothing to disclose. Dr. SACCOLITI has nothing to disclose. Dr. Taratuto has nothing to disclose. Dr. Kauffman has nothing to disclose.