0000000000112553
AUTHOR
R. Nardello
Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants.
Mowat-Wilson syndrome is a genetic disorder associated with a variable phenotype including peculiar facial features associated with intellectual disability, epilepsy, language impairment, and multiple congenital anomalies caused by heterozygous mutation of the ZEB2 gene. The ZEB2 protein is a complex transcription factor that encompasses multiple functional domains that interact with the regulatory regions of target genes including those involved in brain development. Recently, it has been documented that ZEB2 regulates the differentiation of interneuron progenitors migrating from the medial ganglionic eminence to cortical layers by repression of the Nkx2-1 homeobox transcription factor. It…
Child abuse in a medical setting: Case illustrations of two variants of munchausen sindrome by proxy
Munchausen syndrome is a complex type of abuse, which is often underdiagnosed or misdiagnosed in clinical practice, and has harmful consequences for children. Its relationship with child abuse, of which it is a variety, must be recognized in clinical and forensic practice. The authors report herein two observed cases of different types of Münchausen syndrome by proxy (MSbP). The first, is the most severe form of MSbP, with induced, true illness and related pathological symptoms into victim. The second case is a moderate form, much more complex to detect, in which a perpetrator parent simulates and aggravates the childâs illness. Adequate training of health professionals and investigators…
Autism spectrum disorder in Italy: demand for an integrated epidemiological surveillance system.
Autism spectrum disorder (ASD) is a complex neurodevelopmental syndrome of emerging public health concern, according to a documented significant increase of diagnosed cases of ASD in Europe and USA. In Italy, actually, it is not possible to estimate at national level a reliable ASD occurrence by using existing health and scholastic data flows. The lack of information has implications on social and healthcare services dedicated to subjects affected by ADS. The database of the Italian institute in charge of social and security assistance was accessed at the provincial level to investigate the ASD cases occurred in the Palermo province. The official reports of all subjects visited in 2013 by I…
The hairy elbows syndrome: clinical and neuroradiological findings.
The hairy elbows syndrome (HES) is a rare congenital phenotype characterized by an abnormal increase in long hairs localized on the upper limbs extensor surfaces. This feature is often associated with short stature, facial asymmetry, dysmorphisms, intrauterine growth retardation (IUGR), and mental and speech delay. We report a case with hypertricosis cubiti associated with infantile spasms, behaviour disorders and cerebral hemisphere asymmetry. Although these findings have not been previously described we are uncertain whether they are unusual or underestimated. However, it is likely that these neurological findings are strongly interrelated leading to a more severe phenotype of the syndrom…