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Context: Familial Creutzfeldt-Jakob Disease (fCJD) represents 10 to 15% of CJD. Among its subtypes there is a mutation in codon V180I, in which, in complementary exams are observed an absence of specific findings in the electroencephalogram, low concentration of proteins in the CSF and a pattern of diffuse cortical hyperintensity (DCH) in the diffusion sequence identified by MRI. The fCJD with mutation in the V180I codon is predominant in females, presenting symptoms at an advanced age, slow progression, marked by important cognitive decline and low presence of myoclonus. Regarding therapeutic management, there is still no curative or modifying treatment, although the multidisciplinary approach plays a fundamental role in control and quality of life. Case report: A 72 years old male patient reported a history of recent progressive memory loss for three months. It evolved with difficulty in recognizing family members, repetitive behavior, global aphasia, instability when walking until reaching akinetic mutism. The diffusion sequence of MRI revealed areas of diffuse hyperintensity throughout the cerebral cortex. In view of this and after ruling out other etiologies, a mutation in the V180I codon related to fCJD was found. Conclusion: Given the rarity of this form of the disease, a rapid suspicion is essential, with imaging tests, especially skull MRI, and genetic tests, aiming at the proper diagnosis of CJD and its genetic form, with its correct therapeutic management.

Context: The literature on interstitial microtriplications at the 16p11.2 locus is scarce and unclear. We bring a rare case of microtriplications in the 16p11.2 locus associated with Syndromic Autistic Spectrum Disorder (ASD) and Intellectual Disability (ID) to stimulate discussion about this rare and complex condition. Case report: A.M.C., female, 10 years old, with history of agitation and aggression. Referred to neuropediatrician at 6 years old for behavioral change, socialization difficulties, agitation, heteroaggressiveness, developmental delay and school difficulty. She is not literate, has motor stereotypes when agitated, preferably plays with younger children, has tactile (water), taste (food) and sound sensory dysfunction, a low frustration threshold, difficulty in accepting routine changes and BMI of 14. Genetic evaluation showed interstitial triplication of 610Kb in the short arm of chromosome 16, raising diagnostic hypotheses of ASD and ID. Conclusions: Changes in microduplication in this locus are predisposing genetic factors for neurodevelopmental delays, ASD and ID. Changes in the number of 16p11.2 copies are believed to promote BMI index body change and brain changes in a dose-dependent manner on the phenotype. Brain changes include areas associated with reward, language and cognition. We bring this case to bring attention and discussion about to this rare condition.