Autonomic dysreflexia: a cardiovascular disorder following spinal cord injury

Autonomic dysreflexia(AD) is a serious cardiovascular disorder in patients with spinal cord injury(SCI). The primary underlying cause of AD is loss of supraspinal control over sympathetic preganglionic neurons(SPNs) caudal to the injury, which renders the SPNs hyper-responsive to stimulation. Central maladaptive plasticity, including C-fiber sprouting and propriospinal fiber proliferation exaggerates noxious afferent transmission to the SPNs, causing them to release massive sympathetic discharges that result in severe hypertensive episodes. In parallel, upregulated peripheral vascular sensitivity following SCI exacerbates the hypertensive response by augmenting gastric and pelvic vasoconstriction. Currently, the majority of clinically employed treatments for AD involve anti-hypertensive medications and Botox injections to the bladder. Although these approaches mitigate the severity of AD, they only yield transient effects and target the effector organs, rather than addressing the primary issue of central sympathetic dysregulation. As such, strategies that aim to restore supraspinal reinnervation of SPNs to improve cardiovascular sympathetic regulation are likely more effective for AD. Recent pre-clinical investigations show that cell transplantation therapy is efficacious in reestablishing spinal sympathetic connections and improving hemodynamic performance, which holds promise as a potential therapeutic approach.     

Autonomic dysfunction due to lead poisoning

We present a case history of a 24 years old male who developed autonomic dysfunction, intestinal pseudo-obstruction and anemia due to lead poisoning. Concomitant recording of blood levels of lead and autonomic function showed a gradual decline in blood lead level (98.8 microg/dL at week 0, 56 microg/dL at week 6, and 40 microg/dL at week 52) and gradual improvement in autonomic functions. Decrease in blood lead levels with DMSA (Meso-2, 3-dimercaptosuccinic acid) therapy showed improvement in autonomic functions. At week 0, the patient had severe loss of autonomic tone and autonomic reactivity which improved at week 6. At the 52nd week, most of the autonomic parameters had normalized except for the persistence of mild loss of parasympathetic reactivity.     

Autonomic control of the heart and renal vascular bed during autonomic dysreflexia in high spinal cord injury

Autonomic function and hemodynamics were studied in nine spinal cord injured (SCI) subjects, at rest and during peripheral afferent stimulation, bladder percussion. Nine able-bodied subjects were studied for comparison during unstimulated conditions. Spontaneous baroreceptor reflex sensitivity was calculated from recordings of ECG and intraarterial blood pressure. An index of sympathetic activity was provided by measuring total body noradrenaline (NA) spillover by isotope dilution technique. Renal vascular resistance was calculated from PAH-clearance. SCI subjects had lower total body NA spillover (1011 ± 193 vs 2261 ± 328 pmol/min, P < 0.01), but similar baroreceptor reflex sensitivity and hemodynamics compared to able-bodied subjects at rest. In SCI group, during bladder percussion, mean arterial pressure increased (79 ± 5 vs 113 ± 8 mm Hg, P < 0.01), whereas heart rate was reduced during the first minute of the manoeuvre (62 ± 2 vs 56 ± 2 bpm, P < 0.05). Baroreceptor reflex sensitivity remained unchanged. Total body NA spillover and renal vascular resistance increased by 332 % (from 1004 ± 218 pmol/min, P < 0.05) and 55 % (from 0.078 ± 0.011 mmHg/ml/min, P < 0.05), respectively. SCI subjects demonstrated lower total body sympathetic outflow but normal baroreceptor reflex sensitivity at rest, suggesting a balanced autonomic output to the heart. Bladder percussion caused a substantial increase in renal vascular resistance and blood pressure, which was partly due to marked generalised sympathetic activation. This activation was counterbalanced by an increased vagal activity as evidenced by reduction of the heart rate. Received: 6 March 2002, Accepted: 28 August 2002 Correspondence to Sinsia A. Gao, MD     

Autonomic dysfunction in multiple sclerosis: cervical spinal cord atrophy correlates

Autonomic dysfunction has rarely been studied in patients suffering from multiple sclerosis (MS). Some hypotheses have concerned the pathophysiology, especially with regard to a possible spinal cord origin. However, there have been no previous studies on autonomic dysfunction in MS and spinal cord lesions. This study assessed the frequency of autonomic dysfunction (AD) in MS and the correlation to spinal cord magnetic resonance imaging (MRI) findings. We prospectively studied 75 MS patients (25 with relapsing-remitting forms, 25 with secondary progressive forms and 25 with primary progressive forms). We performed sympathetic skin response, R-R interval variability and orthostatic hypotension testing. Spinal cord MRI was performed to detect demyelinating lesions (sagittal and axial plane) or spinal cord atrophy. Clinical and laboratory evidence of AD was found in 84 % and 56 % of MS patients, respectively. The correlation of the latter with disability was evaluated using the Extended Disability Status Scale. AD was more frequent in primary progressive MS than in the other two forms. AD was correlated with spinal cord cross-sectional area reduction but not with spinal cord hyperintensities. This study confirms that the frequency of AD in MS, especially in primary progressive forms, has until now been underestimated. Furthermore, AD appears to be more closely related to axonal loss, as demonstrated by spinal cord atrophy, than to demyelinating lesions. Received: 20 March 2000, Received in revised form: 13 October 2000, Accepted: 29 October 2000     

Lateral medullary infarction with cardiovascular autonomic dysfunction: an unusual presentation with review of the literature

Purpose

We report an unusual case of lateral medullary infarction presenting with orthostatic hypotension with pre-syncope without vertigo or Horner’s syndrome.

Methods

Case report with review of the literature.

Results

A 67-year-old man presented with pre-syncope and ataxia without vertigo. Initial brain CT and MRI were normal. Neurological evaluation revealed right-beating nystagmus with left gaze, vertical binocular diplopia, right upper-extremity dysmetria, truncal ataxia with right axial lateropulsion, and right-facial and lower extremity hypoesthesia. Bedside blood pressure measurements disclosed orthostatic hypotension. He had normal sinus rhythm on telemetry and normal ejection fraction on echocardiogram. A repeat brain MRI disclosed an acute right dorsolateral medullary infarct. Autonomic testing showed reduced heart rate variability during paced deep breathing, attenuated late phase II and phase IV overshoot on Valsalva maneuver, and a fall of 25 mmHg of blood pressure at the end of a 10-min head-up tilt with no significant change in heart rate. These results were consistent with impaired sympathetic and parasympathetic cardiovascular reflexes. He was discharged to acute rehabilitation a week later with residual right dysmetria and ataxia.

Conclusion

Lateral medullary infarctions are usually reported as partial presentations of classical lateral medullary syndrome with accompanying unusual symptoms ranging from trigeminal neuralgias to hiccups. Pre-syncope from orthostatic hypotension is a rare presentation. In the first 3–4 days, absence of early DWI MRI findings is possible in small, dorsolateral medullary infarcts with sensory disturbances. Physicians should be aware of this presentation, as early diagnosis and optimal therapy are associated with good prognosis.

     

Myelopathy: an unusual presentation of toxoplasmosis

Central nervous system toxoplasmosis is a well known disease of immunocompromised patients. Neuropathologic examinations have only rarely demonstrated spinal cord involvement. This report describes a fatal case of toxoplasmosis that presented with a subacute myelopathy. Toxoplasmosis should be considered in immuno-compromised patients, including patients with the acquired immune deficiency syndrome, that develop intramedullary lesions of the spinal cord.     

Autonomic studies in hypertensive patient with unusual sexual dysfunction: response to reserpine

The authors examined a 48-year-old man with a history of hypertension (6 years) and a history of erection and ejaculation during cold exposure and confrontation with fear (20 years). Exposing the foot to cold water induced ejaculation in 10 seconds. A variety of antihypertensive medications resulted in control of hypertension, without improvement in ejaculatory dysfunction. Similarly, prazosin controlled the blood pressure, but not the episodes of ejaculation. Treatment with reserpine resulted in gradual reduction in blood pressure and an improvement in ejaculatory dysfunction.     

Subclavian steal syndrome with an unusual presentation

Steal syndrome has been known since 1960 in the medical literature. It is the pathological process in which blood flows in reverse direction and if vessels supplying the intracranial structures are involved, a variety of neurological symptoms may develop. In this paper, we report a case with left subclavian steal syndrome that presented solely by paroxysmal numbness on the right side of the lip and tongue and discuss the clinical importance from the neurological point of view.     

Palatal myoclonus: an unusual presentation.

We describe a 16-year-old woman with an unusual clinical presentation of palatal myoclonus after a severe upper respiratory infection. Besides the postinfectious onset, this case is unique in that the rhythmical contractions of her oropharynx, larynx, and esophagus occur in couplets rather than single contractions of typical essential palatal myoclonus. Additionally, these contractions are present only during the inspiratory phase of respiration. Imaging and other diagnostic studies show no evidence of cerebellar or brainstem pathology. This case broadens the phenomenology of palatal myoclonus and illustrates the occasional overlap in clinical features between essential and symptomatic palatal myoclonus.     

Frontal intraparenchymal schwannoma: an unusual presentation

Case report A 13-year-old male with an 11-year history of a seizure disorder presented with recent onset raised intracranial pressure symptoms and no obvious phakomatosis. CT revealed a heterogeneous, frontal, intra-axial, densely enhancing, solid lesion with intense perilesional oedema and mass effect. Total microsurgical excision resulted in cure. Histopathological examination showed characteristic Antoni A and B areas and occasional Verocay bodies consistent with the diagnosis of an intraparenchymal schwannoma.Discussion The authors present a very rare, entirely solid manifestation of this highly uncommon lesion seen mostly in young adults and children with symptoms suggestive of raised intracranial pressure and associated seizure disorders. The possible developmental origins are discussed.     

Intracranial hypertension as an unusual presentation of adrenoleukodystrophy

A 19-year-old man with a history of adrenal insufficiency and epilepsy for several years presented with headache, obtundation, status epilepticus and papilloedema. A computed tomography-scan was consistent with a fronto-collosal glioma. However, this patient's condition spontaneously improved after a brain biopsy. Therefore, the diagnosis of adrenoleukodystrophy (ALD) was established, based on histological findings, positive family history and plasma fatty acid analysis. In ALD, an acute and reversible worsening of brain demyelination with increased intracranial pressure may be evocative of a cerebral neoplasm.     

Intracerebral hemorrhage: an unusual presentation of neurosarcoidosis

Neurosarcoidosis has a variety of clinical presentations. Common manifestations include leptomeningeal inflammation with seizures, headache, cranial nerve palsies, hydrocephalus, or focal neurological deficits with white matter lesions or mass lesions. Stroke is relatively rare, and hemorrhage is much less common than ischemia due to vasculitis. We present a patient with histopathologically confirmed neurosarcoidosis presenting with headache, seizures, and cognitive decline with multiple recurrent primary intracerebral hemorrhages.     

Danon disease: an unusual presentation of autism

Danon disease is an X-linked cardioskeletal myopathy, originally reported as "lysosomal glycogen storage disease with normal acid maltase," resulting from a primary deficiency of lysosome-associated membrane protein-2 because of mutations in the lysosome-associated membrane protein-2 gene. Classic clinical features in males include cardiomyopathy (100%, eventually), myopathy (90%), and mental retardation (70%), but mostly of a mild degree. We report on an unusual presentation in a patient with autism, motor delay, and a normal cardiac evaluation. The presence of multiorgan involvement, including elevated liver enzymes, abnormal cranial magnetic resonance imaging, and diffuse hypotonia with swallowing difficulties, prompted a muscle biopsy. A quadriceps muscle biopsy was performed, and the findings were most suspicious for a glycogen storage-type disease. Subsequently, a pathogenic lysosome-associated membrane protein-2 mutation was found. To our knowledge, there are no previous clinical reports of autism in children with Danon disease.     

Autonomic dysfunction in cases of spinal muscular atrophy type 1 with long survival

In Japan, quite a few patients with spinal muscular atrophy type 1 (SMA type 1) survive with mechanical ventilation. Since a patient with SMA type 1 and continuous artificial ventilation exhibited excessive perspiration and tachycardia, we examined the autonomic functions in three cases of SMA type 1, undergoing mechanical ventilation. Two cases exhibited the common sympathetic-vagal imbalance on R–R interval analysis involving 24-h Holter ECG recordings in addition to an abnormality in finger cold-induced vasodilatation. Furthermore, one case showed blood pressure and heart rate fluctuation with the paroxysmal elevation, and a high plasma concentration of norepinephrine during tachycardia. These findings suggest that autonomic dysfunction should be examined in SMA type 1 patients with long survival, although the pathogenesis remains to be clarified.     

Neuroblastoma: an unusual presentation with bilateral ptosis

Neuroblastoma, a common tumor of neural crest origin, demonstrates an extremely variable clinical presentation and behavior. Paraspinal tumors may occur anywhere along the spinal column where they may invade the intervertebral foramina and produce cord compression. Cervical involvement may produce Horner's syndrome. Opsoclonus-myoclonus syndrome is also a well-known neuroimmunologic finding of neuroblastoma. We report a 28-month-old female presenting with ptosis and muscle weakness, diagnosed as having a neuroblastoma.     

Polyglucosan body disease myopathy: an unusual presentation

Polyglucosan body disease (PBD) is a slowly progressive adult-onset glycogen storage disorder that typically affects upper and lower neurons. Myopathy, as a complication of PBD has been reported rarely and clinically manifests as chronic limb-girdle muscle weakness. We report an unusual case of PBD myopathy presenting as an asymmetric motor syndrome that clinically overlapped with amyotrophic lateral sclerosis, further expanding the phenotype of this disorder.     

EEG-mediated diagnosis of an unusual presentation of SSPE.

OBJECTIVE: To highlight the role of EEG in the diagnosis of SSPE. METHODS: EEG was performed in an 18 month old girl who had a 1 week history of repeated episodes of sudden flexion of the head and trunk and frequent falls. RESULTS: EEG abnormalities consisted of stereotyped, generalized and synchronous high amplitude periodic complexes. These abnormalities correlated with brief episodes of axial and upper limb atonia on electromyogram examination. They persisted during sleep although abnormal movements disappeared. Biological results and cerebral MRI confirmed the diagnosis of subacute sclerosing panencephalitis. CONCLUSIONS: This case is exceptional because of the age of the patient, the clinical presentation and the mode of contamination and it highlights the role of EEG in this diagnosis.