1/4. Stimulus-induced drop episodes in coffin-lowry syndrome.OBJECTIVE: coffin-lowry syndrome (CLS) is a rare disorder characterized by moderate to severe mental retardation, facial dysmorphism, tapering digits, and skeletal deformity. Paroxysmal drop attacks occur in patients with CLS, characterized by sudden loss of muscle tone induced by unexpected tactile or auditory stimuli. Our objective is to characterize these attacks better using neurophysiologic studies. methods: We report 2 teenage boys with CLS and stimulus-induced drop episodes (SIDEs). Simultaneous surface electromyogram (EMG) and video electroencephalogram were performed during SIDEs on our 2 patients. RESULTS: Both patients had SIDEs stimulated by a loud noise, unexpected light touch stimulation, or visual threat that were characterized by abrupt episodes of complete or partial loss of lower extremity tone. These events were not associated with impairment of consciousness, and immediate recovery was noted. Simultaneous surface EMG and video electroencephalogram revealed no epileptiform discharges in either patient. In the first patient, after unexpected tactile or auditory stimulation, tonic EMG activity in paraspinal muscles was lost briefly, similar to that seen in cataplexy. In the second patient, at 6 years of age, sudden nonepileptic drop episodes were induced by an unexpected tactile, auditory, or visual stimulation. At 11 years of age, his episodes had changed to brief myoclonic jerk and tonic spasm that were triggered by unexpected tactile and auditory stimuli. An increase in tonic EMG activity occurred during the attacks, consistent with hyperekplexia. CONCLUSIONS: Our data suggest that SIDEs in CLS are a heterogeneous group of nonepileptic events that may manifest features of both cataplexy and hyperekplexia, even in the same patient.- - - - - - - - - - ranking = 1keywords = consciousness (Clic here for more details about this article) |
2/4. Diagnostic ambiguities in a case of post-traumatic narcolepsy with cataplexy.narcolepsy arising from trauma can present particular problems of differential diagnosis. In this case study presentation the patient suffered a head trauma, without unconsciousness, and began to experience unusual episodic behaviours. Symptom presentation differed from the typical clinical manifestations of idiopathic narcolepsy leading to an 8-year search for a definitive diagnosis. Key relevant aspects that led to diagnostic ambiguities were the order of symptom development, negative for the antigen HLA DR2, significance of the Multiple sleep Latency Test (MSLT) mean sleep latency versus number of sleep onset rapid eye movement periods, the somewhat atypical features of cataplexy, the coexistence of sleep apnoea, and the mildness of the original head injury. It is argued that cases of post-traumatic narcolepsy should be considered in the context of their clinical development over time and that practitioners should be aware that this form of narcolepsy can differ from the typical clinical history of idiopathic narcolepsy.- - - - - - - - - - ranking = 1keywords = consciousness (Clic here for more details about this article) |
3/4. cataplexy leading to the diagnosis of Niemann-Pick disease type C.cataplexy in childhood is a rare and often misdiagnosed symptom. It is described as a brief episode of bilateral loss of muscle tone with intact consciousness, triggered by a variety of strong emotions and in particular with unexpected laughter. This report presents a 9-year old male with progressive cerebellar and pyramidal symptoms and a cognitive decline since the age of 4. His recently developed "drop attacks" on laughter were recognized as cataplexy and led to the diagnosis of Niemann-Pick type C disease. With biochemical studies this diagnosis, a lysosomal storage disease, was confirmed. With cataplexy narcolepsy, Niemann-Pick type C disease, Norrie disease, prader-willi syndrome, and coffin-lowry syndrome are associated disorders. Recognition of cataplexy in children with concomitant neurologic symptoms may lead to an early and straight diagnosis of one of these disorders.- - - - - - - - - - ranking = 1keywords = consciousness (Clic here for more details about this article) |
4/4. Resolution of partial cataplexy in multiple sclerosis by treatment with weak electromagnetic fields.cataplexy, an ancillary symptom of narcolepsy, involves the sudden loss of muscle tone without altered consciousness usually brought on by sudden excitement or emotional influence and extreme exertions (Guilleminault et al., 1974; Parks et al., 1974; Guilleminault, 1976; Aldrich, 1992; 1993; Scrima, 1981; Baker, 1985). Attacks of generalized cataplexy produce complete atonic, areflexic partial or complete paralysis of striated muscles commonly involving the leg muscles resulting in collapse of the knees and falling while milder forms often termed partial cataplexy may manifest by sagging of the face, eyelid, or jaw, dysarthria, blurred vision, drooping of the head, weakness of an arm or leg, buckling at the knees, or simply a momentary sensation of weakness that is imperceptible to observers (Guilleminault, 1976; Aldrich, 1993). The duration of cataplexy is usually a few seconds, although severe episodes can last several minutes and rarely several hours or days in the case of "status cataplecticus" (Parkes et al., 1974; Guilleminault, 1976; Billiard & Cadilhac, 1985; Aldrich, 1992; 1993). This report concerns a 51 year old man with chronic progressive multiple sclerosis who exhibited daily episodes of partial cataplexy which resolved within 3 weeks after he received treatment with picotesla electromagnetic fields.- - - - - - - - - - ranking = 1keywords = consciousness (Clic here for more details about this article) |