Very Late-Onset Schizophrenia-Like Psychosis: A Case Report and Critical Literature Review.

Late-life psychosis presents a challenge, wherein a wide range of differential diagnoses should be considered. Very late-onset schizophrenia-like psychosis (VLOSLP) is a nosological entity that remains a conundrum. We provide a comprehensive literature review on the neurobiological underpinnings of VLOSLP. We describe a case that typifies the clinical presentation of VLOSLP. Although not pathognomonic, certain features, namely the two-stage progression of psychotic episode, partition delusions, multimodal hallucinations, and absent formal thought disorder or negative symptoms, are quite suggestive of VLOSLP. Several medical causes that might cause late-life psychosis, including neuroinflammatory/immunology diseases, were ruled out. Neuroimaging revealed basal ganglia lacunar infarctions along with chronic white matter small-vessel ischemic disease. The diagnosis of VLOSLP is based on clinical evidence, and the aforementioned clinical features support this diagnostic hypothesis. This case adds to the growing body of evidence pertaining to the relevance of cerebrovascular risk factors in the pathophysiology of VLOSLP, alongside age-specific neurobiological processes. We hypothesized that microvascular brain lesions disrupt the frontal-subcortical circuitry and uncover other core neuropathological processes. Future research should focus on identifying a specific biomarker that would allow clinicians to more accurately diagnose VLOSLP, differentiate it from other overlapping clinical entities such as dementia or post-stroke psychosis, and provide a tailored treatment for the patient.

Postictal Psychosis: Case Report and Literature Review.

Postictal psychosis (PIP) is one of the most common types of psychosis in epileptic patients. By virtue of the paucity of research on PIP, its pathophysiology remains not completely understood. Our case report describes a clinical picture of PIP, characterized by pleomorphic features, with neither Schneider's first-rank symptoms nor negative symptoms of schizophrenia, in a longstanding epileptic female patient with a history of nonadherence to antiepileptic treatment and poorly controlled seizures. Additionally, she had previous cognitive impairment and encephalomalacia in the right parietooccipital region as a sequela of a moderate-to-severe traumatic brain injury known to precede the emergence of the epilepsy. In light of our findings, we critically reviewed the current literature on postictal psychoses providing insight into its neurobiological underpinnings.

Síndrome de Alice no país das maravilhas e reativação de infeção por Epstein-Barr / Alice in wonderland syndrome and reactivation of infection by Epstein-Barr

INTRODUÇÃO: O síndrome de Alice no País das Maravilhas (SAPM) é uma entidade rara que pode ocorre no contexto de várias condições clínicas, sendo a infeção por vírus Epstein-barr (EBV) a mais comum nas causas infeciosas. Apresenta-se um caso de SAPM associado a infeção a EBV alertando para a necessidade de investigação etiológica destes casos. RELATO DE CASO: Criança de 8 anos, com síndrome de Asperger que, no contexto de amigdalite aguda e febre, surgiu com episódios paroxísticos de alguns minutos de metamorfopsias (macro e micropsia), distorção da perceção das vozes e sensação de medo. A ressonância magnética e o eletroencefalograma foram normais, e o exame citoquímico do líquor foi normal mas a polimerase chain reaction (PCR) foi positiva para vírus EBV. As serologias para EBV, repetidas 3 e 10 semanas após a avaliação inicial, confirmaram uma reativação da infeção por este agente. O doente ficou assintomático após 2 semanas e não houve recidivas. CONCLUSÕES: A investigação de metamorfopsias ou síndrome de SAPM é mandatória pois podem indiciar patologia grave, nomeadamente lesão cerebral ou epilepsia focal. Embora a doença seja rara a etiologia infecciosa deve ser excluída mesmo em doentes com perturbação prévia do comportamento.

INTRODUCTION: Alice in wonderland syndrome (AWS) is a rare condition which may occur as a sign of multiple conditions, with the most frequent infectious etiology being Epstein-barr virus (EBV) infection. We present a case of an AWS caused by EBV infection to alert for the need to investigate these cases. CASE REPORT: 8-year-old boy with Asperger syndrome who developed, in the context of tonsillitis and fever, brief paroxystic episodes of metamorfopsias (macro and micropsia), with voice perception distortion and fear. Physical exam was otherwise normal. Brian magnetic resonance and electroencephalogram were normal, liquor cytochemical exam was normal but Epstein-barr virus (EBV) polimerase chain reaction was positive. EBV blood serologies, repeated 3 and 10 weeks after the initial evaluation, confirmed the reactivation of this agent's infection. Symptoms succumbed 2 weeks after its beginning, with no relapses. CONCLUSIONS: Metamorfopsias or AWS impose etiological investigation because they may occur due to severe disease, namely cerebral lesion or focal epilepsy. Although it is a rare disease, infectious causes should be excluded, even in patients with previous disturbed behavior.

Novel Mutation in the CASR Gene (p.Leu123Ser) in a Case of Autosomal Dominant Hypocalcemia.

Autosomal dominant hypocalcemia, caused by activating mutations of the calcium-sensing receptor (CASR) gene, is characterized by hypocalcemia with an inappropriately low concentration of parathyroid hormone (PTH). In this report, we describe the identification of a novel missense mutation in the CASR gene, in a boy with autosomal dominant hypocalcemia. Polymerase chain reaction (PCR)-single strand and DNA sequencing revealed a heterozygous mutation in CASR gene that causes a leucine substitution for serine at codon 123 (p.Leu123Ser). This mutation was absent in DNA from 50 control patients. In silico studies suggest that the identified variant was likely pathogenic. Sequencing analysis in the mother suggested mosaicism for the same variant, and she was clinically and biochemically unaffected. Clinical manifestations of the index case started with seizures at 14 months of age; cognitive impairment and several neuropsychological disabilities were noted during childhood. Extrapyramidal signs and basal ganglia calcification developed later, namely, hand tremor and rigidity at the age of 7 and 18 years, respectively. Laboratory analysis revealed hypocalcemia, hyperphosphatemia, and low-serum PTH with hypomagnesemia and mild hypercalciuria. After 2 years of treatment with calcium supplements and calcitriol, some brief periods of clinical improvement were reported; as well as an absence of nephrocalcinosis.