Palatal tremor is a rare movement disorder characterized by rhythmic contractions of the soft palate. It is most often symptomatic, secondary to brainstem or cerebellar disease and, in rarer cases, is categorized as essential in the absence of documented brain lesions. There have also been reports in the literature of cases of palatal tremor described as psychogenic because they were associated with psychological or psychiatric disorders. We describe the case of a 12-year-old boy with palatal tremor presenting clinical features of symptomatic essential and psychogenic palatal tremor, thus suggesting a neuropsychopathological continuum between the different forms of disease.

BackgroundMicrophthalmia with linear skin defects (MLS) syndrome is a rare X-linked dominant male-lethal developmental disorder characterized by unilateral or bilateral microphthalmia and linear skin defects of the face and neck. Additional features affecting the eyes, heart, brain or genitourinary system can occur, corroborating the intra- and interfamilial phenotypic variability. The majority of patients display monosomy of the Xp22.2 region, where the holocytochrome c-type synthase (HCCS) gene is located.Case presentationWe describe a 15-year-old-female affected by MLS syndrome and autism spectrum disorder (ASD). ASD has not previously been reported as a component of MLS. Our patient shows a large deletion of 12.9 Mb, involving Xp22.32-p22.2, which encompasses both the HCCS gene and autism X-linked genes.ConclusionThus, patients with a large deletion at Xp22 might display MLS with ASD, due to the deletion of contiguous genes, although the highly variable phenotype of these patients could be influenced by several genetic mechanisms, including different tissue-specific X-inactivation and somatic mosaicism.