Fluctuating Hemiparesis Secondary to Moyamoya Phenomenon in a Child with Down Syndrome: a case report

Moyamoya phenomenon is a term used to describe extensive collateralization of the circle of Willis arteries associated with severe unilateral or bilateral internal carotid artery stenosis or occlusion in the presence of certain conditions. Down syndrome is among these conditions. A case is reported of a young girl with Down syndrome who presented with fluctuating right-sided weakness and facial droop found to have cerebral ischemia. Subsequent investigations disclosed characteristic "puff of smoke" patterns on angiographic studies consistent with moyamoya phenomenon. The patient was initially treated with aspirin and eventually underwent an encephalomyosynangiosis. This young patient with Down syndrome and moyamoya phenomenon serves as a reminder of the association between these two conditions

Arachnoid cyst in a patient with psychosis: Case report

<p>Abstract</p> <p>Background</p> <p>The aetiology of a psychotic disturbance can be due to a functional or organic condition. Organic aetiologies are diverse and encompass organ failures, infections, nutritional deficiencies and space-occupying lesions. Arachnoid cysts are rare, benign space-occupying lesions formed by an arachnoid membrane containing cerebrospinal fluid (CSF). In most cases they are diagnosed by accident. Until recently, the coexistence of arachnoid cysts with psychiatric disturbances had not been closely covered in the literature. However, the appearance of some references that focus on a possible link between arachnoid cysts and psychotic symptoms has increased the interest in this subject and raised questions about the etiopathogeny and the therapeutic approach involved.</p> <p>Clinical presentation</p> <p>We present the clinical report of a 21-year-old man, characterised by the insidious development of psychotic symptoms of varying intensity, delusional ideas with hypochondriac content, complex auditory/verbal hallucinations in the second and third persons, and aggressive behaviour. The neuroimaging studies revealed a voluminous arachnoid cyst at the level of the left sylvian fissure, with a marked mass effect on the left temporal and frontal lobes and the left lateral ventricle, as well as evidence of hypoplasia of the left temporal lobe. Despite the symptoms and the size of the cyst, the neurosurgical department opted against surgical intervention. The patient began antipsychotic therapy and was discharged having shown improvement (behavioural component), but without a complete remission of the psychotic symptoms.</p> <p>Conclusion</p> <p>It is difficult to be absolutely certain whether the lesion had influence on the patient's psychiatric symptoms or not.</p> <p>However, given the anatomical and neuropsychological changes, one cannot exclude the possibility that the lesion played a significant role in this psychiatric presentation. This raises substantial problems when it comes to choosing a therapeutic strategy.</p

Cognition and Behaviour in Sotos Syndrome: A Systematic Review

BACKGROUND:Research investigating cognition and behaviour in Sotos syndrome has been sporadic and to date, there is no published overview of study findings. METHOD:A systematic review of all published literature (1964-2015) presenting empirical data on cognition and behaviour in Sotos syndrome. Thirty four journal articles met inclusion criteria. Within this literature, data relating to cognition and/or behaviour in 247 individuals with a diagnosis of Sotos syndrome were reported. Ten papers reported group data on cognition and/or behaviour. The remaining papers employed a case study design. RESULTS:Intelligence quotient (IQ) scores were reported in twenty five studies. Intellectual disability (IQ < 70) or borderline intellectual functioning (IQ 70-84) was present in the vast majority of individuals with Sotos syndrome. Seven studies reported performance on subscales of intelligence tests. Data from these studies indicate that verbal IQ scores are consistently higher than performance IQ scores. Fourteen papers provided data on behavioural features of individuals with Sotos syndrome. Key themes that emerged in the behavioural literature were overlap with ASD, ADHD, anxiety and high prevalence of aggression/tantrums. CONCLUSION:Although a range of studies have provided insight into cognition and behaviour in Sotos syndrome, specific profiles have not yet been fully specified. Recommendations for future research are provided