Bipolar disorder with Melnick-Needles syndrome and periventricular nodular heterotopia: two case reports and a review of the literature.

BACKGROUND: Melnick-Needles syndrome and periventricular nodular heterotopia are two usually mutually exclusive phenotypes of F-actin-binding cytoskeletal phosphoprotein Filamin-A mutations. Melnick-Needles syndrome is a rare X-linked condition that is lethal in males and shows great phenotypic variability in affected females. It is caused by mutations in Filamin-A gene, which encodes the protein Filamin A. Defects of the human Filamin-A gene also cause X-linked periventricular nodular heterotopia, a malformation of neuronal migration characterized by nodules of neurons in inappropriate location adjacent to the walls of the lateral ventricles. CASE PRESENTATION: We report on two Caucasian adolescent females, sisters, diagnosed with Melnick-Needles syndrome and bilateral periventricular nodular heterotopia, who developed bipolar disorder and somatic symptoms disorder at a young age. We also present a review of the literature about mental disorders associated with periventricular nodular heterotopia. Our report shows that patients presenting with atypical and heterogeneous psychiatric disease may have an underrecognized anatomical brain abnormality on genetic basis. CONCLUSIONS: We found records of psychiatric disorders associated with periventricular nodular heterotopia; nevertheless, this is the first report of bipolar disorder occurring in individuals with periventricular nodular heterotopia, and the first report of any psychiatric disorder in individuals affected by Melnick-Needles syndrome. In conclusion, this case report may contribute to characterizing the phenotype of this very rare syndrome.

Vitamin D deficiency is not related to eating habits in children with Autistic Spectrum Disorder.

BACKGROUND AND AIMS: Autism Spectrum Disorder (ASD) is characterized by the impairment of communication and social interaction and by repetitive, restricted and stereotyped interests. ASD is often accompanied by comorbidities; eating disorders are frequent and imply important nutritional deficits (i.e. deficiencies of vitamins, minerals and fatty acids). Vitamin D has a critical role in neurodevelopment and serum levels in ASD are reported inadequate. A useful reference for setting up a correct diet in childhood is the food pyramid, which is inspired by the Mediterranean Diet (MD). The MD guarantees an intake of nutrients, considered optimal to maintain an adequate nutritional status. The aim of this study is to explore serum levels of Vitamin D and food habits (through MD adherence) in a sample of children with ASD and evaluate a possible correlation between these factors. METHODS: study participants include 91 children 47 presenting ASD and 44 healthy typically-developing (TD) subjects, as control group. We evaluated serum level of Vitamin D in both group; anthropometric parameters (weight, height, body mass index-BMI-and growth percentile) and MD adherence have been explored, in order to investigate the correlation among those data and level of Vitamin D in children with ASD. Lastly, the association between Vitamin D levels and severity of ASD symptoms has been analysed. RESULTS AND CONCLUSION: 74% of ASD group presented blood levels of Vitamin D under 30 ng/ml (normal range 30-100 ng/ml). The analysis performed showed that the two groups were significant different regards Vitamin D levels (t = 2.24, p < 0.05), according to literature. 31.9% of children with ASD presented a condition of overweight and 12.6% a condition of obesity. Adherence to the MD was low in 25.5% of cases. No significant statistical correlation has been found between Vitamin D serum levels, anthropometric parameters and the adherence to MD in the ASD group.