[A case of familial hypokalemic periodic paralysis with hyperuricemia during paralytic attack and genetic analysis of the pedigree].

We reported a 13-year-old boy and his family with hypokalemic periodic paralysis. He showed marked hyperuricemia during his paralytic attack, although neither ischemic forearm exercise test nor bicycle-ergometer exercise test revealed myogenic hyperuricemia when he was free from paralysis. Genetic analysis was performed to the proband and his affected elder brother, mother, and, maternal grand mother. We found the Arg528His mutation of CACNL1A3 gene in all the patients examined. The severity of the attacks and the age of onset did not vary in the different generations, and male predominancy was not evident in this family.

Clinical effects of elastic bandage on neurogenic orthostatic hypotension.

Neurogenic orthostatic hypotension (OH) often causes troublesome symptoms such as dizziness, syncope and falling, interfering active daily life or various therapies in rehabilitation. Nonpharmacologic measures for treating patients with OH include wearing elastic leotard, head-up tilting at night, etc. Elastic garment or antigravity suits is certainly effective, but it may be uncomfortable and not practical. Although elastic bandage (EB) bound on the lower limbs has been thought to be useful, there is few clinical report about its beneficial evidence. We investigated short-term clinical effects of commercially available EB on OH, and estimated the mechanism of its effectiveness by measuring some blood pressure-related humoral variables in neurodegenerative patients with OH.

The protective effect of a persistent trigeminal artery on brain stem infarctions: a follow-up case report.

A persistent trigeminal artery (PTA) represents an embryonic vascular anastomosis connecting the carotid and basilar arterial systems. Little is known about its protective role in cases of basilar artery occlusion. We followed up a 63-year-old man who had suffered a brain stem infarction due to basilar artery stenosis and was found to have a PTA. Although a second brain stem infarction due to basilar artery occlusion developed, the circulation to the brain stem was well maintained via collateral flow from the PTA, and the patient demonstrated good recovery. A PTA may function as an anastomosis between the carotid and basilar systems, thus preventing a more serious infarction.

[A case of antiphospholipid syndrome associated with myasthenia gravis].

We report a 40-year-old Japanese woman with antiphospholipid antibody syndrome (APS) associated with myasthenia gravis (MG). She had a history of miscarriage at the age of 27 followed by pulmonary embolism 3 weeks later. At the age of 40, she developed diplopia, bilateral ptosis and easy fatigability. Serum anti-acetylcholine receptor antibody and tensilon test were positive. She was diagnosed as having MG. The laboratory test revealed mild thrombocytopenia, prolonged activated partial thromboplastin time (aPTT) and positive findings for both beta 2-glycoprotein I-dependent anticardiolipin antibody and lupus anticoagulant. She fulfilled the diagnostic criteria of APS, but did not the criteria proposed by American Rheumatism Association for SLE. An extended total thymectomy was performed after administration of oral prednisolone and low-dose aspirin. This is a patient who had APS associated with MGs: both are known to result from autoimmune abnormality. The clinical and laboratory manifestations of APS were ameliorated after removal of the thymus, suggesting that thymectomy alleviates APS symptoms.

Altered response in cutaneous sympathetic outflow to mental and thermal stimuli in primary palmoplantar hyperhidrosis.

Skin sympathetic nerve activities (SSNAs) were recorded simultaneously from the tibial and peroneal nerves by microneurography at an ambient temperature of 25 degrees C in five subjects with primary palmoplantar hyperhidrosis. The resting of the tibial SSNA innervating the sole (glabrous skin) increased moderately (36.5 +/- 1.5 bursts/min), while mental arithmetic provoked marked responses (1,003.3 +/- 457.4% compared with the resting level) in the hyperhidrosis group compared with the control normohidrosis group (n = 5, 25.3 +/ 4.2 bursts/min and 142.2 +/- 58.4%, respectively). Differentiation of the tibial SSNA into sudomotor (innervating sweat glands) and vasoconstrictor (innervating presphincter of skin vessels) revealed that this SSNA enhancement was attributable to not only sudomotor but also vasoconstrictor components during mental arithmetic. In contrast, the responses in the peroneal SSNA (innervating the dorsum pedis, hairy skin) of the hyperhidrosis group were only slightly changed, exhibiting no significant difference from those in the normohidrosis group. Reflex bursts elicited by sound and electric stimulation were normal in amplitude and latency. When the ambient temperature was elevated to 30 degrees C, the tibial SSNAs became more enhanced than did the peroneal SSNAs. The tibial SSNA was markedly enhanced in the hyperhidrosis group (290.0 +/- 78.5%) compared with the normohidrosis group (78.3 +/- 25.4%). We conclude that the excessive responses in SSNA to the plantar glabrous skin to both mental and thermal stimuli may be responsible for the profuse sweating in subjects with primary palmoplantar hyperhidrosis.

[A comparison of ultrasonography and cerebral angiography for the evaluation of extracranial carotid stenosis].

To investigate the usefulness of extracranial carotid ultrasonography for atherosclerotic plaque, we performed carotid ultrasonography and cerebral angiography (CAG) and classified the severity of the stenosis into 6 scores. We filmed 2-4 images (anterior, lateral, right anterior oblique and left anterior oblique views) for each vessel on CAG. There were 104 cases (169 vessels) with suspected or definite cerebrovascular disease. Both scores agreed in 67.5% of cases. In cases with over 50% stenosis on CAG, the scores agreed in 19 of 20 cases. But in cases with 50% or less stenosis on CAG, the scores agreed in only 95 of 149 cases. In most cases where scores were different, scores for ultrasonography were higher than those for angiography. The inconsistency of scores was attributed to eccentric plaque of early carotid atherosclerosis, uniform thickening of the intima-media complex and remodeling of the vessels. We filmed 4 images for 39 vessels to elevate CAG sensitivity for carotid stenosis. The results based on 4 images did not differ significantly from those based on 2 images. Carotid remodeling, or vessel enlargement in relation to the plaque area, was seen in 2 cases. Ultrasonography, which provided real-time information about both lumen and vessel wall characteristics, was necessary to make the diagnosis of carotid remodeling.

[A case of hereditary neuropathy with liability to pressure palsies (HNPP) with diabetes mellitus].

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant neuropathy recently reported to be associated with deletion of the peripheral myelin protein-22 (PMP-22) gene. We report a 39-year-old man with recurrent brachial plexopathy and foot drop complicated by uncontrolled diabetes mellitus (DM). Right foot drop occurred at 31 years of the age and the patient subsequently experienced difficulty in raising his right arm. Neurological examination revealed weakness of the right deltoid, biceps muscles and tibialis anterior muscles. Deep tendon reflexes were generally absent. Sensory nerve conduction velocities in th ulnar, median and sural nerves were prolonged. Serum glucose and HB Alc levels were elevated to 468 mg/dl and 12.5%, respectively. Initially, it was difficult to diagnose the neuropathy as HNPP because the patient had poorly controlled diabetes mellitus and was unaware of similar disease in his family. In addition, focal asymmetric motor neuropathy and good recovery can develop in diabetes mellitus, occasionally with recurrence. We were able to make a final diagnosis of HNPP by detecting deletion of the PMP-22 gene region. After the diagnosis was confirmed, we examined the patient's family and found that his father experienced recurrent episodes of bilateral foot drop. This case suggests that gene analysis is sometimes essential in the differential diagnosis of hereditary peripheral neuropathies.

Clinico-pathophysiological features of acute autonomic and sensory neuropathy: a long-term follow-up study.

We evaluated the clinico-pathophysiological features of three patients with acute autonomic and sensory neuropathy (AASN) who were followed for over 3 years. Signs of an autonomic disturbance including vomiting, anhidrosis, urinary disturbances, orthostatic hypotension and reduced coefficient of variation of the R-R interval on electrocardiography gradually improved about 1 year after onset. However, all three exhibited severe generalized sensory impairment for all modalities with the development of persistent sensory ataxia. No sensory nerve action potentials could be elicited and no somatosensory evoked potentials could be obtained. Sural nerve biopsy revealed severe axonopathy. In two patients, a high-intensity area was observed in the posterior column of the spinal cord on T2*-weighted axial magnetic resonance images. The level of neuron-specific enolase in cerebrospinal fluid was markedly elevated in two patients, indicating spinal nerve root or sensory neuron damage. Motor nerve function was well preserved in all patients. Our findings suggests that the major lesion in patients with AASN, particularly those with a sensory deficit, is present in the dorsal root ganglion neurons, that is there is a ganglioneuronopathy.

A scintigraphical qualitative analysis of peripheral vascular sympathetic function with meta-[123I]iodobenzylguanidine in neurological patients with autonomic failure.

In order to assess qualitatively the sympathetic functions of the peripheral vessels, we performed a scintigraphical study of the entire body with meta-[123I]iodobenzylguanidine (MIBG) in 13 patients with autonomic failure and 11 healthy subjects as control. The patients comprised seven with multiple system atrophy (MSA), two with pure autonomic failure (PAF), three with Parkinson's disease with autonomic failure (PD with AF) and one with familial amyloid polyneuropathy (FAP). No clinical evidence of vascular disease was noted in any of the patients and the control subjects. We investigated their autonomic functions using the head up tilt test as well as norepinephrine and isoproterenol infusion tests. We found that: (i) All of the control subjects showed satisfactory MIBG uptake; (ii) all of the patients with PAF and FAP, most of whom had postganglionic sympathetic lesions, showed supersensitivity and low MIBG uptake; (iii) almost all the patients with MSA, who were considered to have mainly preganglionic sympathetic lesions, showed supersensitivity and diminished MIBG uptake, although the patients with olivopontocerebellar atrophy showed supersensitivity but not diminished MIBG uptake. In conclusion, these results suggest that peripheral vascular scintigraphy using MIBG is useful in detecting peripheral adrenergic dysfunction.

A radiological analysis of heart sympathetic functions with meta-[123I]iodobenzylguanidine in neurological patients with autonomic failure.

Cardiac scintigraphy with meta-[123I]iodobenzylguanidine (MIBG) is used to assess cardiac sympathetic function. We performed [123I]MIBG scintigraphy in 7 patients with neurological diseases presenting orthostatic hypotension and other autonomic failures (AF), 22 neurological patients without AF, and 9 healthy subjects. Thallium scintigraphy and echocardiography were also performed in all subjects. In this series, patients with any evidence of cardiac dysfunction were excluded. No [123I]MIBG accumulation was observed in all patients with AF, and cardiac defects were noted in 7 patients (5 with Parkinson's disease [PD], 2 with spinocerebellar degenerations [SCD]), and in some patients without AF. In contrast, the distribution of [123I]MIBG was normal in all the healthy subjects. No decrease in [123I]MIBG accumulation was resulted from drug therapy (droxidopa, amezinium and thyrotropin-releasing hormone). In conclusion, reduced accumulation on [123I]MIBG scintigraphy may be due to myocardial beta-adrenoceptor dysfunction or reduced central sympathetic activity of the heart, or both.

[Double crush syndrome in patients with cervical spondylosis or ossification of posterior longitudinal ligament--a clinicophysiological study].

To clarify the clinical characteristics of double crush syndrome (DCS), we evaluated 207 patients with cervical spondylosis (CS) and 19 with ossification of posterior longitudinal ligament of the cervical spine (OPLL) clinicophysiologically. A diagnosis of DCS was based on the following criteria; 1) radiological evidence of CS or OPLL on X-ray films; 2) definite spinal cord compression on cervical magnetic resonance imaging (MRI); 3) neurological deficits in the upper extremities resulting from CS or OPLL; and 4) clinical and/or electrophysiological evidence of entrapment neuropathies in the upper extremities, namely carpal tunnel syndrome (CaTS), Guyon's tunnel syndrome (GTS), and/or cubital tunnel syndrome (CuTS). Pressure-provocative tests were used to confirm clinical entrapment neuropathies. Nerve conduction velocities were also examined. We found 28 patients with DCS (23 CS, 5 OPLL; 12.8% of all patients). There were 9 patients with clinical and electrophysiological DCS, 5 with clinical DCS, and 14 with electrophysiological DCS. Of the total number of patients with DCS, 21 proved to have CaTS, 4 had CuTS, 1 had GTS, 1 had both CaTS and CuTS, and 1 had both CaTS and GTS. Definite spinal cord compression was seen at C5/6 (23 patients), C4/5 (21), C3/4 (13) and C6/7 (10) on cervical MRI. In the majority of patients, neurological deficits of the upper extremities did not result from a single peripheral nerve lesion. It is well known that a discrepancy between neurological manifestation and neuro-imaging sometimes occurs in CS and OPLL, and circulatory disturbance in the spinal cord has been considered a possible pathogenetic mechanism of the disorder.(ABSTRACT TRUNCATED AT 250 WORDS)

[123I-MIBG myocardial scintigraphical analysis in patients with and without autonomic disorder].

We investigated cardiac sympathetic nerve abnormalities using 123I-metaiodobenzylguanidine (MIBG) in patients with and without autonomic failure (AF), presenting mainly with orthostatic hypotension. 123I-MIBG myocardial scintigraphy was performed in 7 patients with AF, in 10 patients without AF and in 5 normal subjects. Absence of myocardial damage was confirmed in all of the subjects using 210thallium scintigraphy and ultrasound. All of the patients with AF and 4 without AF showed extremely diminished MIBG uptake. 123I-MIBG myocardial scintigraphy is generally useful for detecting adrenergic nervous system dysfunction. Possible confounding factors such as drugs or myocardial beta-receptor dysfunction should be carefully eliminated in patients without AF, because false-negative uptake of MIBG may be seen in some of them.

[Common carotid artery thrombosis--clinical and radiological evaluation].

Common carotid artery thrombosis (CCAT) is not common. We studied 4 patients with CCAT to clarify the clinical and radiological features of this disorder. Case 1 had only episodes of TIA. Case 2 was diagnosed by chance as having CCAT at the time of admission due to cerebellar infarction. On the contrary, Cases 3 and 4 were admitted because of disturbance of consciousness and hemiparesis. Case 4 died soon after his stroke because of complications. We evaluated cases 1, 2 and 3 using head CT, head MRI, neck MRI, MR angiography, SPECT and cerebral angiography. Case 4, who was evaluated with head CT and cerebral angiography, was autopsied to confirm the occlusion of the common carotid artery. The clinical severity of CCAT varies from asymptomatic to severe, because each differs in the time taken for complete occlusion of the common carotid artery; the development of collateral circulation; and hemodynamics of the brain. As for the collaterals their contribution is variable; for example, the thyrocervical and other arteries function as the bypass. We can diagnose CCAT easily and noninvasively using MR angiography and neck MRI based on disappearance of the flow void in the common carotid artery or internal carotid artery. On physical examination, it is important to detect faded pulsation of the superficial temporal artery that is ipsilateral to the occluded common carotid artery.

Treatment of postprandial hypotension with selective alpha 1 and beta 1 adrenergic agonists.

In order to treat postprandial hypotension (PPH), we orally administered a combination of denopamine (10 mg, a selective beta 1-adrenergic agonist) and midodrine-HCl (4 mg, a selective alpha 1-adrenergic agonist) to eight patients with autonomic failure (AF) prior to and after eating. When the patients were given 75 g glucose with 225 ml water without drugs, blood pressure fell subsequently, cardiac output (CO) was unchanged, and vascular resistance of the lower legs (LVR) decreased. However, concomitant administration of denopamine and midodrine-HCl prevented PPH and increased CO and LVR. The portal blood flow was not indifferent to the drugs. A marked increase in heart rate after drug administration was seen in some patients with AF, which reflects the supersensitivity to denopamine. Combined oral administration of denopamine and midodrine-HCl is a safe and useful therapy for PPH in patients with AF.

[MRI findings in patients with acute autonomic and sensory neuropathy].

Acute autonomic and sensory neuropathy (AASN), characterized by acute onset of extensive autonomic dysfunction and severe sensory deficits, was first described by Colan et al. (1978). We present two female patients with AASN in whom magnetic resonance imaging (MRI) confirmed such findings in the posterior column of the spinal cord. One patient was a 44-year-old woman who developed an upper respiratory tract infection followed in 2 weeks by numbness of the limbs and gait disturbance. There was orthostatic hypotension with syncope, paretic ileus, anhidrosis and urinary retention. There was a loss of sensation over the entire body, including the face, and deep tendon reflexes were generally absent. Neurophysiologic studies showed that sensory nerve action potentials and SSEPs were not evoked in the nerves examined. Sural nerve biopsy demonstrated severe axonal degeneration of the myelinated and unmyelinated fibers. Our second patient, a 27-year-old woman, exhibited similar clinical and laboratory features. The autonomic dysfunction in both patients improved gradually without drug treatment, but the sensory deficits--predominantly a loss of deep sensation--persisted for several years. In both patients, MRI revealed the T2*-weighted high intensity area in the fasciculus gracilis of the posterior column of the spinal cord. Such high intensity areas were present in all spinal segments. The severe and persistent sensory disturbance in these patients may have been caused by a lesion of the posterior column of the spinal cord following the involvement of the dorsal root ganglion cells, or ganglioneuronopathy, as demonstrated by MRI.

Postprandial hypotension: hemodynamic differences between multiple system atrophy and peripheral autonomic neuropathy.

To clarify the mechanism of postprandial hypotension (PPH), we performed hemodynamic investigation after oral glucose ingestion in ten patients with multiple system atrophy (MSA), three patients with peripheral autonomic neuropathy (PN) and 16 normal controls. Blood pressure (BP) and heart rate (HR) were measured with an automatic sphygmomanometer; cardiac out (CO) and lower leg blood flow (LBF) with impedance plethysmography; and portal blood flow (PBF) using a B-mode pulse Doppler. In normal subjects, BP, LBF and vascular resistance of the lower leg (LVR) were not changed, but HR slightly increased, and PBF and CO significantly increased after oral ingestion of 75 g glucose. In the patients with MSA, BP fell significantly 15 min after glucose ingestion, and HR and CO did not increase. PBF and LBF increased and LVR fell significantly. In PN patients, BP decreased at 15 min after glucose ingestion, but soon recovered. Increase of PBF and decrease of LVR in them were almost similar to those in the MSA group, and increase of CO was greater than that in the controls. These results suggest that both systemic vasodilatation (presumably due to gastrointestinal vasodilatatory peptides) and lack of compensatory increase of CO and LVR play important roles in PPH.

Primary erythromelalgia: the role of skin sympathetic nerve activity.

A 54-year-old man complained of burning pain, warm skin and erythema in his extremities. A diagnosis of primary erythromelalgia was made. Microneurography was used to clarify the role of skin sympathetic nerve activity in the pathophysiology of primary erythromelalgia. The patient showed normal skin sympathetic nerve activity but no vasoconstriction response. Aspirin activated the skin sympathetic nerve activity and improved vasoconstriction producing symptomatic relief. These results suggest that the lack of vasoconstriction following vasoconstrictor activity of the skin sympathetic nerves results in increased skin blood flow and burning pain.

An autopsied case of primary epipharyngeal rhabdomyosarcoma presenting Garcin syndrome.

A 61-year-old housewife had complained of unilateral facial pain and had been treated as prolonged trigeminal neuralgia by a dentist. When she came to our clinic, the III-X cranial nerves of the right side were involved. A base view of the skull indicated destructive lesions of the right side middle cranial fossa, and a diagnosis of Garcin syndrome was made. Neurosurgical operation, X-ray radiation and chemotherapy improved to some extent the neurological condition temporarily. Postmortem examination showed an epipharyngeal rhabdomyosarcoma occupying the maxillary sinus, and extradural space of the cranial base on the right side.

Postprandial hypotension: microneurographic analysis and treatment with vasopressin.

To clarify the mechanism of postprandial hypotension (PPH), we made microneurographic analyses of patients with PPH and 10 healthy controls by recording multi-unit vasoconstrictive impulses of muscle sympathetic nerve activity (MSNA) directly from the tibial nerve fascicles during a glucose tolerance test. Oral intake of 75 grams glucose in 225 ml of water produced significant and prolonged hypotension in all patients and an increase in MSNA in all healthy subjects. Insulin and glucose responses were not significantly correlated with arterial blood pressure reduction. PPH was prevented by an infusion of vasopressin (0.3 U/min) given before glucose intake. These results suggest that PPH is caused by the lack of sympathetic compensation for the systemic hypotensive stress of splanchnic blood pooling that occurs after food ingestion, and that prior treatment with vasopressin reduces the portal venous flow by constricting the splanchnic vessels in patients with PPH.