Background: High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a cohort of 325 Portuguese patients with intellectual disability (ID). Results: We have detected CNVs in 30.1% of the patients, of which 5.2% corresponded to novel likely pathogenic CNVs. For these 11 rare CNVs (which encompass novel ID candidate genes), we identified those most likely to be relevant, and established genotype-phenotype correlations based on detailed clinical assessment. In the case of duplications, we performed expression analysis to assess the impact of the rearrangement. Interestingly, these novel candidate genes belong to known ID-related pathways. Within the 8% of patients with CNVs in known pathogenic loci, the majority had a clinical presentation fitting the phenotype(s) described in the literature, with a few interesting exceptions that are discussed. Conclusions: Identification of such rare CNVs (some of which reported for the first time in ID patients/families) contributes to our understanding of the etiology of ID and for the ever-improving diagnosis of this group of patients.

SUMMARYSummary A neonate with a prenatal diagnosis of left renal agenesis was born at 33 weeks gestation. A postnatal abdominal ultrasound confirmed the absence of the left kidney and revealed two nondivergent hemiuteri, consistent with the diagnosis of Herlyn-Werner-Wunderlich syndrome. During admission, significant axial hypotonia was noted, warranting additional investigations. Brain ultrasounds and MRI were normal, as were a preliminary metabolic study and comparative genomic hybridisation array. DNA methylation testing confirmed the diagnosis of PraderWilli syndrome. The baby was discharged after 70 days, breast feeding and with modest hypotonia improvement. BACKGROUND

SUMMARYA 22-month-old girl with a history of a congenital occipital cutaneous cyst was brought to the paediatric emergency department for lethargy and occipital headache. She had been discharged 5 days before for acute meningitis without bacterial isolates. At physical observation, she presented with irritability and neck hyperextension, with negative meningeal signs. CT scan revealed a vermian cyst and hydrocephalus. She was submitted to neurosurgery with removal of an infected midline dermoid cyst with a fistulous track to the skin. Surgery was successful and without complications. During follow-up, the child was asymptomatic with normal psychomotor development. BACKGROUND

No presente artigo, analisar-se-á a relação entre literatura e ilustração no conto História do Capuchinho Vermelho contada a crianças e nem por isso, de Manuel António Pina, que inclui seis pinturas a pastel da artista plástica Paula Rego. Analisaremos algumas das semelhanças e diferenças entre o conto do autor português e as versões anteriores, de Perrault e dos Irmãos Grimm. Destacaremos, sobretudo, a importância das ilustrações nos contos infantis, realçando a necessidade de aliar dois tipos de texto — o pictórico e o verbal —, podendo o primeiro auxiliar na descodificação do segundo. Torna-se também necessário pensar em conceitos como “belo” e “grotesco”, tão presentes na obra de Paula Rego.