Association of sleep‐disordered breathing with decreased cognitive function among patients with dementia

Sleep is known to be essential for proper cognitive functioning. Sleep disturbance, especially respiratory disturbance during sleep, is a risk factor for the development of dementia. However, it is not known whether hypopnoea during sleep is related to severity of cognitive function in patients already diagnosed with dementia. Considering the high prevalence of sleep problems in aged people, it is important to determine if hypopnoea during sleep contributes to dementia. In addition, it would be desirable to develop a feasible method for objectively evaluating sleep in patients with dementia. For this purpose, a simple sleep recorder that employs single or dual bioparameter recording, which is defined as a type‐4 portable monitor, is suitable. In this study, a type‐4 sleep recorder was used to evaluate respiratory function during sleep in 111 patients with dementia, and data suggesting a possible relationship with cognitive function levels were examined. Multivariate logistic regression was used to investigate the association of severity of dementia with sleep‐disordered breathing, age, diabetes, dyslipidaemia and hypertension. It was found that the respiratory disturbance index was associated with severity of cognitive dysfunction in our subjects. Furthermore, patients younger than 80 years were more susceptible to lower cognitive function associated with sleep‐disordered breathing than patients 80 years old or over, because an increase in the respiratory disturbance index was associated with deteriorated cognitive function only in the former age group. These results suggest that proper treatment of sleep apnea is important for the preservation of cognitive function, especially in patients with early‐stage dementia.     

Acute limbic encephalitis with focal hyperperfusion on single photon emission computed tomography

Here we report an 11-year-old boy with acute encephalopathy with neuropsychiatric symptoms. The patient had mildly decreased consciousness, delirious behavior, and affective changes next day of fever onset. Hematologic, biochemical, and metabolic examinations were unremarkable. CSF analysis revealed cell counts of 278 cells/mm³ and a protein level of 87 mg/dL. Although MRI revealed no abnormal findings, an increase in regional cerebral blood flow was present in the bilateral frontal lobes, mesial temporal lobes, and basal ganglia on single photon emission computed tomography. The measurement of the concentrations of biomarkers such as cytokines in the patient’s serum and cerebrospinal fluid revealed elevated levels of IL-4 and TNF-α in the cerebrospinal fluid. Immunohistochemical studies applying control human brain sections did not demonstrate the presence of autoantibodies. We considered that innate immunity rather than autoantibody response may have contributed to the neuropsychiatric symptoms of our patient. These results suggest heterogeneity of patients with acute encephalopathy with neuropsychiatric symptoms.     

Whole‐exome sequencing of a unique brain malformation with periventricular heterotopia,cingulate polymicrogyria and midbrain tectal hyperplasia

We report a case of an infant with unique and unreported combinations of brain anomalies. The patient showed distinctive facial findings, severe delay in psychomotor development, cranial nerve palsy and seizures. Brain magnetic resonance imaging performed at 5 days of age revealed complex brain malformations, including heterotopia around the mesial wall of lateral ventricles, dysmorphic cingulate gyrus, and enlarged midbrain tectum. The patient unexpectedly died at 13 months of age. Postmortem pathological findings included a polymicrogyric cingulate cortex, periventricular nodular heterotopia, basal ganglia and thalamic anomalies, and dysmorphic midbrain tectum. Potential candidate genes showed no abnormalities by traditional PCR‐based sequencing. Whole‐exome sequencing confirmed the presence of novel gene variants for filamin B (FLNB), guanylate binding protein family member 6, and chromosome X open reading frame 59, which adapt to the autosomal recessive mode or X‐linked recessive mode. Although immunohistochemical analysis confirmed the expression of FLNB protein in the vessel walls and white matter in autopsied specimens, there may be functional relevance of the compound heterozygous FLNB variants during brain development.