Hypophosphatemia-induced neuropathy: clinical and electrophysiologic findings

Severe hypophosphatemia has rarely been reported as a cause of acute paralysis. We present the clinical and electrophysiological findings on a patient who developed quadriparesis following several surgeries for complicated cholecystectomy. The paralysis was most likely the result of severe hypophosphatemia causing a neuropathy which improved readily after proper phosphate replacement. The possible pathogenic mechanisms of hypophosphatemic neuropathy are discussed.     

Autonomic neuropathy in diabetic children

OBJECTIVE: Evaluate the presence of cardiovascular autonomic nerve dysfunction in children and adolescents with insulin-dependent diabetes mellitus. METHODOLOGY: We studied 110 patients (54 male, 56 female) and 100 healthy sex and age-matched children. Autonomic nerve function was assessed by standard cardiovascular reflex tests: (1) Fall in systolic blood pressure in response to standing. (2) Heart rate in response to standing. (3) Beat-to-beat rate variation during deep breathing. (4) Quotient of heart rate during and after Valsalva manoeuvre. (5) Change in blood pressure response to sustained handgrip. The coefficient of variation of heart rate was determined from 150 systoles using a microcomputer-based technique. The lower limits of normal were defined according to statistical analysis taking into account the relationship between heart rate variability and age. RESULTS: Forty-seven of the 110 diabetic children and adolescents studied showed one or more abnormal tests for cardiovascular autonomic dysfunction; many patients had an abnormality in more than one test. Twenty-two patients showed early involvement, 18 patients had definite and 7 severe involvement. No correlation was found between sex, glycaemic control, duration of diabetes or presence of retinopathy and persistent microalbuminuria and the autonomic nerve function. CONCLUSIONS: In the paediatric age group also, autonomic nerve dysfunction can be present in asymptomatic diabetic patients. Heart rate variation during Valsalva manoeuvre and maximum/minimum 30:15 ratio are the most sensitive indices to detect autonomic abnormalities in children.     

Autonomic neuropathy in the trembler mouse

There is little detailed histological information concerning the autonomic nervous system in hereditary demyelinating neuropathies in man. An opportunity was therefore taken to study the autonomic nervous system of the trembler mouse which suffers from a dominantly inherited peripheral neuropathy. Schwann cell myelination in trembler vagus and splanchnic nerves was abnormal. Morphometric analysis of myelinated and unmyelinated fibres in these nerves showed a marked reduction in myelinated fibre density distribution, whilst unmyelinated fibre densities were within the control range. The trembler vagus contained increased numbers of large diameter unmyelinated fibres probably as a result of trembler Schwann cell failure to form myelin around axons of the appropriate diameter for myelination. The trembler splanchnic nerve, however, contained increased numbers of small diameter unmyelinated fibres, possibly postganglionic fibres which fail to achieve their expected diameters.     

Diabetic neuropathy: clinical aspects

The importance of diabetic neuropathy derives from its remarkable frequency and its clinical impact. In view of the varying underlying pathogenetic mechanisms and the resulting diversity of clinical representations, it becomes apparent that there are diabetic neuropathies, rather than a single entity of diabetic neuropathy. The scope of involvement is widespread with virtually every system at risk. Although peripheral neuropathy is by far the most common expression, visceral neuropathy is also highly significant. It may affect every part of the gastrointestinal tract, the genitourinary tract, and sexual function, as well as direct autonomic nerve pathology. Clearly, neuropathy in diabetes offers a specific and important diagnostic challenge to the clinician and plays a definitive role in differential diagnosis. The problem is heightened by the fact that any and all of the diabetic neuropathic syndromes may be the initial clinical manifestation of diabetes in the absence of covert manifestations of carbohydrate metabolic disorder. It is to be stressed that the diagnosis is more than an academic exercise, since each diabetic neuropathic syndrome carries with it some beneficial therapeutic modality to aid the patient.     

Painful trigeminal neuropathy: clinical and pharmacological observations

A 74-year-old woman had a 5-year history of constant burning pain and numbness of the central face of subacute onset. The central region of the face, oral cavity, and nose lacked all sensation. Corneal reflexes and the jaw jerk were absent. Blood tests, rectal biopsy, neurodiagnostic studies, and surgical exploration of the trigeminal nerve were normal. Blink reflexes were absent. Facial nerve motor latencies and EMG of the facial and masseter muscles were normal. Responses to the thermoregulatory sweat test, intradermal histamine, and simulated diving were present. Oral administration of 500 mg L-dopa aggravated her pain and produced transient hypalgesia in the C2 through C6 dermatomes. Infraorbital nerve biopsy demonstrated loss of large myelinated fibers. In conclusion: (1) Only the central region of the face is exclusively supplied by the trigeminal nerves. (2) Somato-autonomic reflexes coupled with electrophysiological studies localized the lesion to the large fibers. (3) Large fiber loss and central brain stem reorganization may explain the burning pain. (4) Dopamine may modulate trigeminal nociception.     

Electrophysiologic findings in multifocal motor neuropathy

We performed detailed electrophysiologic studies on 16 patients with clinically defined multifocal motor neuropathy and found a wide spectrum of demyelinating features. Only five patients (31%) had conduction block in one or more nerves. However, in 15 patients (94%) at least one nerve showed other features of demyelination. We also noted a significant degree of superimposed axonal degeneration in 15 patients. Eight patients (50%) had individual nerves with pure axonal injury, despite the presence of demyelinating features in other nerves. Antiganglioside antibodies were elevated in four of five patients with conduction block and five of 11 patients without conduction block. We conclude that multifocal motor neuropathy is characterized electrophysiologically by a wide spectrum of axonal and demyelinating features. Diagnostic criteria requiring conduction block may lead to underdiagnosis of this potentially treatable neuropathy.     

Hemifacial spasm: clinical findings and treatment

Hemifacial spasm (HFS) is a peripherally induced movement disorder characterized by involuntary, unilateral, intermittent, irregular, tonic or clonic contractions of muscles innervated by the ipsilateral facial nerve. We reviewed the clinical features and response to different treatments in 158 patients (61% women) with HFS evaluated at our Movement Disorders Clinic. The mean age at onset was 48.5+/-14.1 years (range: 15-87) and the mean duration of symptoms was 11.4+/-8.5 (range: 0.5-53) years. The left side was affected in 56% instances; 5 patients had bilateral HFS. The lower lid was the most common site of the initial involvement followed by cheek and perioral region. Involuntary eye closure which interfered with vision and social embarrassment were the most common complaints. HFS was associated with trigeminal neuralgia in 5.1% of the cases and 5.7% had prior history of Bell's palsy. Although vascular abnormalities, facial nerve injury, and intracranial tumor were responsible for symptoms in some patients, most patients had no apparent etiology. Botulinum toxin type A (BTX-A) injections, used in 110 patients, provided marked to moderate improvement in 95% of patients. Seven of the 25 (28%) patients who had microvascular decompression reported permanent complications and the HFS recurred in 5 (20%). Although occasionally troublesome, HFS is generally a benign disorder that can be treated effectively with either BTX-A or microvascular decompression.     

Frontal and temporal onset of brain atrophy. Clinical and instrumental findings

We report the cases of a 70-year old man with left temporal brain atrophy and of a 39-year-old man with neuropathologically verified frontal lobe degeneration (FLD) of Non-Alzheimer type. 10 patients with FLD collected during a prospective study on degenerative dementia had more severe volumetric brain changes and less severe quantitative band power changes than a group of matched patients with clinically diagnosed Alzheimer's disease.     

Autonomic control of cardiovascular function: clinical evaluation in health and disease

The high- and low-pressure baroreceptor reflexes are integral to the control of blood pressure by the autonomic nervous system. Tests of the integrity of these baroreflexes make it possible to identify the site of autonomic dysfunction in patients with orthostatic hypotension. Clinical characteristics and typical results of autonomic testing in patients with autonomic failure, with carotid sinus hypersensitivity, and with hyperadrenergic autonomic dysfunction are described in this review.     

Autonomic cardiovascular neuropathy in Sj?gren's syndrome. A controlled study

OBJECTIVE: To test patients with primary Sj?gren's syndrome (SS) for evidence of autonomic neuropathy. METHODS: Thirty-two patients with primary SS and 22 age and sex matched healthy individuals were asked specific questions about symptoms suggestive of autonomic neuropathy, and were subjected to a battery of 5 cardiovascular tests: response of blood pressure to sustained hand grip, Valsalva maneuver, heart rate response to deep breathing, and heart rate and blood pressure response to standing up. The chi-squared test with Yates' correction and 95% confidence intervals were used for statistical analysis of the results. RESULTS: Sixteen patients (50%) had symptoms of autonomic neuropathy when specifically asked versus none of the controls (p < 0.0005). The frequency of abnormal responses to the tests was 68.8% in patients and 12.7% in controls (p < 0.0001). Severe autonomic cardiovascular neuropathy was found in 87.5% of the patients but in none of the healthy individuals (p < 0.0001). CONCLUSION: Our results suggest that autonomic neuropathy is a feature of a significant portion of the SS population, and such patients should have appropriate evaluation. Similarly, patients with unexplained autonomic neuropathy should be investigated for evidence of SS.     

The instrumental and clinical laboratory follow-up of congenital hypothyroidism

Early diagnosis, L-tiroxine therapy and adequate follow-up are determinant to remove the damages resulting from hormone deficiency in congenital hypothyroidism (CH). In order to achieve a better intellectual development, the authors suggest some guidelines for a correct follow-up on the basis of their personal experience on a population of 160 children with CH. These guidelines include monitored therapy, biochemical controls, instrumental investigations, clinical and auxological serial examinations. To better predict the mental outcome of these patients as adults, the authors propose a longer follow-up till adolescents, especially in the children with more severe hypothyroidism at diagnosis.     

Primary muscle lymphoma: clinical and imaging findings

PURPOSE: To assess the clinical and imaging findings in primary muscle lymphoma. MATERIALS AND METHODS: Seven patients with biopsy-proved primary muscle lymphoma without evidence of systemic disease underwent imaging with plain radiography or computed tomography (CT) and magnetic resonance (MR) imaging. Four underwent bone scintigraphy, and two underwent gallium scintigraphy and fluorine-18 fluorodeoxyglucose (FDG) positron emission tomography (PET) before and after therapy. RESULTS: Plain radiographs at initial examination (n = 5) showed no bone abnormalities. Soft-tissue masses and bone marrow involvement showed isoattenuation at CT (n = 3), but at MR imaging (n = 7), all masses demonstrated increased signal intensity on T2-weighted images that involved multiple muscle compartments and typically spanned a long segment of the extremity. Adjacent bone disease was less extensive than muscle disease, and, in most cases, subcutaneous stranding or extension was observed adjacent to the masses. Good size correlation was observed between findings at MR imaging, gallium scintigraphy, and FDG PET. Two patients developed recurrent multifocal muscle lymphoma several years after initial examination. CONCLUSION: The presence of an extensive soft-tissue mass with infiltration of adjacent subcutaneous fat and minimal or no extension into the bone marrow cavity at MR imaging and normal plain radiographic findings may suggest primary muscle lymphoma.     

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.     

Spontaneous bacterial peritonitis: clinical study, microbiological findings and clinical course

One hundred and forty-four episodes of spontaneous bacterial peritonitis (SBP) treated in our service between July 1988 and September 1995 were studied retrospectively to assess the clinical presentation, microbiological findings, possible pathogens, treatment and course. Ascites, abdominal pain and fever were the most common symptoms. Only 3.5% of cases were asymptomatic. The outcome was fatal in 12 (8.33%). Among the factors analyzed, only a prothrombin time of less than 35% correlated significantly with a higher mortality rate (60% and 8.33%, respectively; p < 0.01). Ascitic fluid culture was positive in 43.05% of cases; significant differences existed between these patients and those with negative ascitic fluid culture with respect to clinical findings or course. Gram-negative microorganisms were those most frequently isolated (48.38%). Treatment was initiated within 12 hours in 77.7% of the patients, between 12 and 72 hours in 11.8% and later in 10.41%. Intravenous cefotaxime was administered in 86.1% of cases and other drugs or drug combinations in only 13.9%; the mortality rate was much lower with cefotaxime (2.4% vs 45%; p < 0.01).     

Bronchopulmonary dysplasia: correlation of radiographic and clinical findings

BACKGROUND AND PURPOSE: Abnormalities of the chest wall have been described in bronchopulmonary dysplasia (BPD). Clinical, radiographic and pulmonary function variables were evaluated in 1-year-old children ventilated because of neonatal lung disease in order to quantify these thoracic changes and to evaluate the lung disease. METHODS: The pulmonary status of 51 infants with neonatal lung disease requiring artificial ventilation was reevaluated clinically and radiographically at the age of 1 year. Twenty-two of these infants had developed BPD. Thoracic depth and width were measured clinically and on chest X-ray. The Toce score evaluated the presence of cardiomegaly, hyperinflation, emphysema and interstitial lung disease. Lung function was measured after sedation using previously reported methods. In BPD patients, Toce score and lung function were determined and compared at 1 month and at 1 year of age. RESULTS: In BPD patients, chest depth was significantly smaller when measured clinically as well as on chest radiograph (P < 0.05; Mann-Whitney U-test). There was a statistically significant correlation between chest depth measured clinically and on chest X-ray. Toce score was significantly higher in BPD patients (P < 0.05). In BPD patients intersitial abnormalities and decreased lung compliance were more frequent at the age of 1 month than at the age of 1 year. At the age of 1 year, hyperinflation was more frequent and at that time increased airway resistance was still noted. Thus the type of X-ray abnormality reflects the type of lung function disturbance. CONCLUSION: The flatness of the chest is most likely a consequence of the long-standing lung function abnormalities.     

Development of instrumental and technical measurement aspects for clinical capillary microscopy

Clinically oriented investigation in microcirculation was stimulated by the internist O. Müller. After the second World War new electronic methods were established and later converted into clinical techniques. Therefore it became possible to measure capillary blood cell velocity, dynamic capillary blood pressure and transcapillary diffusion of fluorescent tracers in human skin. For many years vital capillaroscopy has been successfully used to study the microcirculation of human skin capillaries. Capillary video-microscopy at the finger nailfold in connection with local cold exposure test are presented as a method with clinical applicability in vasopastic disease.