1/18. Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism.We report a novel inborn error of metabolism identified in a child with an unusual neurodegenerative disease. The male patient was born at term and recovered well from a postnatal episode of metabolic decompensation and lactic acidosis. Psychomotor development in the first year of life was only moderately delayed. After 14 mo of age, there was progressive loss of mental and motor skills; at 2 years of age, he was severely retarded with marked restlessness, choreoathetoid movements, absence of directed hand movements, marked hypotonia and little reaction to external stimuli. Notable laboratory findings included marked elevations of urinary 2-methyl-3-hydroxybutyrate and tiglylglycine without elevation of 2-methylacetoacetate, mild elevations of lactate in CSF and blood, and a slightly abnormal acylcarnitine profile. These abnormalities became more apparent after isoleucine challenge. Enzyme studies showed absent activity of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) in the mitochondrial oxidation of 2-methyl branched-chain fatty acids and isoleucine. Under dietary isoleucine restriction, neurologic symptoms stabilized over the next 7 months.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
2/18. ketamine-fentanyl-midazolam infusion for the control of symptoms in terminal life care.In this report, we describe nine terminally ill patients with metastatic cancer who were treated with an intravenous infusion consisting of ketamine (2 mg/ml)/fentanyl (5 micrograms/ml)/midazolam (0.1 mg/ml) (K/F/M) to control pain after traditional analgesic therapies were unsuccessful. In addition to pain, all patients exhibited some symptoms of cognitive compromise and agitation. After initiation of the K/F/M infusion, all patients exhibited some degree of qualitative improvement in these symptoms as well as in overall pain control. We feel that these observations warrant reporting of the efficacy of this infusion for the treatment of uncontrolled pain and agitation in terminally ill patients when the traditional methods of pain control are inadequate.- - - - - - - - - - ranking = 4keywords = life (Clic here for more details about this article) |
3/18. Treatment of agitation and aggression in four demented patients using ECT.electroconvulsive therapy (ECT) has been shown to be effective in treating the behavioral symptoms associated with psychiatric disorders in demented patients. Four case studies are presented that show its efficacy in treating behavioral symptoms in demented patients. We suggest that ECT is beneficial in these potentially life-threatening behavioral disturbances.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
4/18. Failed challenge with quetiapine after neuroleptic malignant syndrome with conventional antipsychotics.neuroleptic malignant syndrome (NMS) is an uncommon but potentially life-threatening adverse effect associated with conventional antipsychotic agents. The syndrome is characterized by muscular rigidity, hyperpyrexia, altered consciousness, and autonomic dysfunction. Few cases of quetiapine-induced NMS have been reported. A 54-year-old man was unsuccessfully challenged with quetiapine after conventional antipsychotic-induced NMS.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
5/18. Dementia with lewy bodies treated with rivastigmine: effects on cognition, neuropsychiatric symptoms, and sleep.Dementia with lewy bodies (DLB) is a common cause of the dementia syndrome. Symptomatic treatment of the fluctuating cognition, visual hallucinations, and sleep disturbance that characterize this condition is challenging; neuroleptics are relatively contraindicated. We describe eight patients fulfilling the consensus diagnostic criteria for probable DLB who were treated with rivastigmine. Clinical features rated were: cognition by the Modified Mini-Mental State Examination (3MS); and behavioral and psychiatric symptoms by the Neuropsychiatric Inventory (NPI). Additional information was obtained from family and nursing reports. Seven patients showed resolution or improvement in cognition and neuropsychiatric symptoms as demonstrated by improvement in their 3MS and NPI scores. They also became more independent in mobility and activities of daily living, and the majority returned to live in their own home. Of the seven patients with sleep disruption, six improved. One case had no improvement in his symptomatology and the rivastigmine was stopped. Outcomes in this case series suggest that rivastigmine is well tolerated in clinical practice.- - - - - - - - - - ranking = 36.250086084014keywords = family (Clic here for more details about this article) |
6/18. Early recognition of neuroleptic malignant syndrome during traumatic brain injury rehabilitation.neuroleptic malignant syndrome is a rare disorder that manifests with hyperthermia, muscle rigidity and autonomic instability. Presented is a case series of individuals with traumatic brain injury and agitation who, when treated with neuroleptics, developed neuroleptic malignant syndrome. Although the incidence of this syndrome is rare, it is associated with significant morbidity and mortality. The onset of symptoms inconsistent with the patient's current level of recovery should alert the clinician to consider other possible diagnosis and failure to distinguish the features of neuroleptic malignant syndrome from post-traumatic agitation will delay appropriate intervention for this potentially life-threatening disorder.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
7/18. Irukandji-like syndrome in South florida divers.Irukandji syndrome is a constellation of delayed severe local and systemic symptoms occurring after a Carukia barnesi box jellyfish sting involving any exposed skin. These cases are limited to australia, the habitat of that animal. Numerous other cases of an Irukandji-like syndrome after other small Carybdeid genus envenomations have been reported elsewhere in the world. There have yet been no reports of Irukandji-like syndrome occurring in continental US coastal waters. We describe 3 cases of marine envenomation causing such a symptom complex in US military combat divers off Key West, FL. It is unclear what species caused the injuries, but a member of the Carybdeid genus seems most likely.- - - - - - - - - - ranking = 1.3284081094027keywords = member (Clic here for more details about this article) |
8/18. autopsy proven sporadic frontotemporal dementia due to microvacuolar-type histology, with onset at 21 years of age.We describe the clinical, neuropsychological, and neuropathological features of a 21 year old woman with frontotemporal dementia (FTD). The early presentation was of florid behavioural change involving hyperactivity and disinhibition. Magnetic resonance imaging and single photon emission computed tomography of the brain revealed atrophy and severe functional abnormalities of the frontal and temporal lobes, respectively. Electroencephalogram was normal. At autopsy, there was gross frontotemporal brain atrophy and the underlying histology was of a microvacuolar-type degeneration; no tau or ubiquitin immunoreactive, intraneuronal inclusions were seen. There was no family history of dementia and no mutation in the tau gene. We believe this patient represents the youngest (so far) recorded case of FTD associated with this particular histological form of the disorder.- - - - - - - - - - ranking = 36.250086084014keywords = family (Clic here for more details about this article) |
9/18. neuroleptic malignant syndrome and clozapine withdrawal at the same time?The authors report a case of a patient, who in a few days after an abrupt discontinuation of clozapine and haloperidol developed agitated and confused state resembling neuroleptic malignant syndrome (NMS) and clozapine withdrawal symptoms at the same time. Data obtained from family members led to gradual reintroduction of clozapine and to subsequent recovery. The case illustrates the importance for clinicians to be familiar with the variety of discontinuation symptoms, so they can recognize them and offer effective treatment.- - - - - - - - - - ranking = 37.578494193417keywords = family, member (Clic here for more details about this article) |
10/18. Alcohol withdrawal as an underrated cause of agitated delirium and terminal restlessness in patients with advanced malignancy.A significant number of patients with terminal cancer experience terminal restlessness or an agitated delirium in the final days of life. Multifactorial etiologies may contribute to agitation and restlessness for any one patient; alcohol withdrawal may be underrated as a contributing factor. The symptoms and signs of alcohol withdrawal--autonomic dysfunction, tremor, anxiety, sleep disturbances, insomnia, and abnormal vital signs--may continue for 6 to 12 months after the cessation of alcohol. We report four patients with terminal restlessness in whom we believe alcohol withdrawal to be a significant causal factor and a fifth patient who subsequently benefited from our team's increased awareness of this clinical problem. Formal assessment of alcohol withdrawal may be of more value in the palliative setting than using the currently accepted assessment instruments. Many of the medications utilized for the treatment of agitated delirium and terminal restlessness in the palliative care setting are effective therapies for alcohol withdrawal.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
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