Angelman syndrome has been suggested as a disease model of neurogenetic developmental condition with a specific behavioral phenotype. It is due to lack of expression of the UBE3A gene, an imprinted gene located on chromosome 15q. Here we review the main features of this phenotype, characterized by happy demeanor with prominent smiling, poorly specific laughing and general exuberance, associated...

OBJECTIVE To characterize neurological involvement in juvenile systemic lupus erythe-matosus. METHOD The charts of all patients with the diagnosis of systemic lupus erythematosus before the age of 16 years, followed at the Rheumatology Unit of Pequeno Príncipe Hospital, from January 1992 to January 2006, were retrospectively reviewed, highlighting neuropsychiatric aspects. RESULTS Forty-sev...

A case of basal ganglia calcification (diagnosed in vivo) and schizophreniform psychosis occurring in a young adult with Down's syndrome is reported. A stress-vulnerability model is suggested. Because of the relatively high prevalence of basal ganglia calcification to Down's syndrome, this population appears well suited for systematic study of the neuropsychiatric aspects associated with this n...

For those facing progressive life limiting disease, symptoms across a range of systems can be problematic. Clinicians may find themselves prescribing from several classes of drugs to alleviate distressing problems and to maximise quality of life for patients. Many drugs used for symptom control in palliative care give rise to neuropsychiatric side effects as they affect the central nervous syst...

Post viral fatigue syndrome (PVFS) is a long-standing in which patients suffer from the following conditions: low-grade fever, headache, weakness, impaired thinking, and neuropsychiatric symptoms such as depression [1]. Particular signs, including respiratory distress, malaise, olfactory taste disturbance, hair loss, poor concentration, may persist for several months or longer after COVID-19 in...

Nasu-Hakola syndrome is a hereditary cause of pathological fractures. Uniquely, patients also develop neuropsychiatric symptoms and signs. The disease is ultimately fatal. We propose a management strategy for pathological fractures in sufferers based on the stage of the disease.

Wernicke-Korsakoff syndrome is a neuropsychiatric disorder resulting from thiamine deficiency and commonly associated with chronic alcoholism, but we describe the first case report resulting from self-neglect associated with depression.