Journal of the neurological sciences
-
Case Reports
Spinocerebellar ataxia type 7 mimicking Kearns-Sayre syndrome: a clinical diagnosis is desirable.
Spinocerebellar ataxias are a group of autosomal dominant cerebellar degenerative disorders, which are characterized by clinical and genetic variability. Spinocerebellar ataxia type 7 (SCA7) is less variable in clinical presentation than other SCAs. ⋯ We review the differential diagnosis of cerebellar ataxia with vision loss secondary to retinal pigmentary dystrophy. This paper supports concept of a desirable clinical diagnosis to avoid multiple genetic or invasive testing in children with neurodegenerative disorders.
-
Charles Bonnet syndrome is characterised by the occurrence of complex visual hallucinations in the presence of normal cognition in elderly individuals. It commonly happens following conditions where there has been a profound loss of vision or interruption of visual input into the occipital cortex. It is important to distinguish this largely innocuous condition from psychiatric conditions that exist in the same age group. ⋯ The article details the various conditions where this phenomenon has been experienced; the theories that have been postulated for its aetiology and the treatment options. The variations of this case from the commonly observed scenarios are highlighted questioning previously held convictions as well as providing an insight into the widening spectrum of the phenomenon as more cases are described. The article hopes to raise awareness of this condition, which is much commoner than perceived by healthcare practitioners, as most patients in that age group are reluctant to be forthcoming with their symptoms for fear of being diagnosed with a psychiatric disorder.
-
To evaluate the subjective sleep quality, the prevalence of daytime sleepiness and the risk of sleep-related upper airways obstruction in patients with genetically proven Facioscapulohumeral muscular dystrophy (FSHD). FSHD is an autosomal dominant myopathy, characterized by an early involvement of facial and scapular muscles with eventual spreading to pelvic and lower limb muscles. ⋯ Our data support the hypothesis that patients with FSHD have an impaired sleep quality, and that this impairment is directly related to the severity of the disease. A systematic polysomnographic evaluation of these patients will be necessary to confirm the presence of sleep disruption and to clarify its pathogenesis.
-
Carbon monoxide (CO), a highly toxic gas produced by incomplete combustion of hydrocarbons, is a relatively common cause of human injury. Human toxicity is often overlooked because CO is tasteless and odorless and its clinical symptoms and signs are non specific. The brain and the heart may be severely affected after CO exposure with carboxyhemoglobin (COHb) levels exceeding 20%. ⋯ Diagnosis requires clinical acumen and a high index of suspicion, combined with epidemiological data, clinical examination, analysis of ambient air CO and patient COHb levels; also required are cardiology evaluation including ECG as well as neurological evaluation including brain imaging (CT and/or MRI, MR spectroscopy), and neuropsychological testing. Although immediate O(2) breathing is sometimes an adequate treatment, hyperbaric oxygen therapy (HBO) is favored. Subsequently, only symptomatic therapy is available for the long-term sequelae of CO poisoning.
-
This article highlights the experimental and clinical data, controversies and postulated mechanisms surrounding osmotherapy with hypertonic saline (HS) solutions in the neurocritical care arena and builds on previous reviews on the subject. Special attention is focused on HS therapy on commonly encountered clinical paradigms of acute brain injury including traumatic brain injury (TBI), post-operative "retraction edema", intracranial hemorrhage (ICH), tumor-associated cerebral edema, and ischemia associated with ischemic stroke.