Urinary retention and sympathetic sphincter obstruction in axonal Guillain-Barré syndrome

A 62-year-old woman with axonal Guillain-Barré syndrome developed weakness and urinary retention simultaneously. The retention failed to recover for 10 months even after she regained the ability to walk. The patient exhibited no postural hypotension. Videourodynamics showed that the retention was caused not by the bladder paralysis but rather by internal (sympathetic) sphincter obstruction, which is extremely uncommon in peripheral neuropathies. We started the patient on an alpha-adrenergic antagonist, urapidil, at 30 mg/day, and this led to successful relaxation of the urethra and reduced the postvoid residual from 200 ml to less than 30 ml. The underlying mechanisms of urinary retention in our patient appeared to involve hyperactive lumbosacral sympathetic nerves. Urinary retention and sympathetic sphincter obstruction can thus be features of axonal Guillain-Barré syndrome.     

Aseptic meningo–radiculo–encephalitis presenting initially with urinary retention

We report three male patients with aseptic meningoencephalo– radiculitis presenting with acute urinary retention.Viral antibody titers for herpes types I and II and the PCR studies were negative. The cerebrospinal fluid revealed elevated myelin basic protein.The serum antibodies against a panel of gangliosides, some of which are known to be associated with acquired demyelinating neuropathies, were all negative.The magnetic resonance imaging (MRI) studies revealed spotty T2 high intensities in the basal ganglia, thalamus and brainstem in two patients. In one patient,meningeal gadolinium enhancement of the conus and cauda equina of the spinal cord was recognized. On urodynamic studies, all patients showed features of atonic bladder with or without detrusor hyperactivity. They were treated conservatively without using steroids or immunoglobulins, and made a remarkable functional recovery with the disappearance of abnormal MRI findings.However, all three were left with erectile dysfunction, and two continued to use self–intermittent catheterization at more than 3–year follow–up.There was no recurrence of symptoms. The underlying causes remain unclear, though they may represent a variant of acute disseminated encephalomyelitis.     

The opsoclonus–myoclonus syndrome

The opsoclonus–myoclonus syndrome is a rare and distinct neurological disorder characterised by rapid multidirectional conjugate eye movements (opsoclonus), myoclonus and ataxia, along with behavioural changes in adults and irritability in children. Sometimes it is due to a self-limiting presumed para-infectious brainstem encephalitis but it may also represent a non-metastatic manifestation of neuroblastoma in children and small cell carcinoma of the lung in adults. In this article, we will describe the clinical features, diagnosis, pathogenesis and management.     

Opsoclonus–myoclonus–ataxia syndrome in children

Journal of Neurology - Opsoclonus–myoclonus–ataxia syndrome is a rare neuroimmunologic disorder typically presenting in previously healthy infants and toddlers. It is characterized by a...     

Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome

We report on 2 brothers (aged 19 and 12 years) with Marinesco-Sj?gren syndrome who also had very low serum vitamin E concentrations with an absence of postprandial chylomicrons. The molecular study ruled out ataxia with isolated vitamin E deficiency, abetalipoproteinemia, and hypobetalipoproteinemia. The electron microscopy of the intestinal mucosa was consistent with a chylomicron retention disease. We speculate that both chylomicron retention disease and Marinesco-Sj?gren syndrome are related to defects in a gene crucial for the assembly or secretion of the chylomicron particles, leading to very low serum levels of vitamin E.     

Opsoclonus–myoclonus–ataxia syndrome and HIV seroconversion

Journal of Neurology -     

Radiological imaging findings of Dyke–Davidoff–Masson syndrome

Radiological findings of Dyke–Davidoff–Masson syndrome (DDMS) in patients with different etiologies are presented in our study. The study included 12 patients (seven females, five males) for whom radiological examinations were requested due to reasons such as epilepsy, mental retardation, and/or hemiplegia. CT was performed in 12, MRI in 6, MRA in 1, and DSA in 1 patient. Following imaging findings were evaluated: cerebral and cerebellar involvement (laterality, encephalomalacia), affected territories, ventricular enlargement, sulcal enlargement, calvarial thickening, and paranasal sinus enlargement hyperaeration. Age range of the patients was 5–62 (mean 34.1 ± 21.7). Left hemicrania was affected in eight patients, right hemicrania in four. Ipsilateral calvarial thickening and lateral ventricular dilatation were observed in all patients. 11 patients had ipsilateral frontal sinus hyperaeration, sulcal enlargement and encephalomalacia. Wallerian degeneration of the mesencephalon and middle fossa hypoplasia was seen in ten patients, mastoid hyperaeration, third ventricular enlargement and thalamic involvement in nine, and corpus callosum, basal ganglion injury, and sphenoid sinus hyperaeration in eight. MCA, ACA, and PCA territories were involved in six patients. Only MCA territory involvement was seen in four patients. Cerebellar atrophy was contralateral in two patients. Symmetric bilateral atrophy was observed in one patient. DDMS can be encountered with different radiological findings based on cerebral damage formation process and the extent of damage. Patients may have different levels of cerebral hemiatrophy, ipsilateral carvarial thickening, and lateral ventricular dilatation.     

Guillain–Barré syndrome in children

Guillain–Barré syndrome (GBS) is one of the reasons of acute polyneuropathy causing severe morbidity and mortality. Forty-six patients with GBS were included in our study. Clinical, laboratory, electrophysiological and prognostic features of the patients were evaluated retrospectively. Patients were divided into two groups. Group A consisted of children who attained a full recovery within 2 months from onset of the disease; group B consisted of children who experienced complete or partial recovery beyond 2 months from onset of the disease. Acute inflammatory demyelinating polyradiculoneuropathy was found in 56.5% of patients and axonal form in 43.5% patients. Antecedent events were found in 28 (60.9%) patients. Five patients (10.8%) needed mechanical ventilation and one patient (2.1%) died. Poor outcome was related with clinic stage and electrophysiological subtypes (axonal form). In our study, poor prognostic factors were related with clinic stage and electrophysiological subtypes (axonal form).     

Kleine–Levin syndrome with brain atrophy

Kleine–Levin syndrome (KLS) is commonly described as a self-limiting disorder exhibiting episodes of hypersomnia and psychiatric symptoms, but without any enduring disabilities. Recently, reports have shown that persistent or even progressive memory deficits can also be associated with the disorder. Nevertheless, little has been reported about cognitive disturbances in KLS. Our report describes a rare patient with KLS and prominent brain atrophy. A 24-year-old woman developed severe neurological and psychiatric features 12 years previously, 2 weeks after she was hit in the head. Although she has had no recurrence of the primary KLS symptoms, she continues to have a cognitive disorder, verbal disability, and whole brain atrophy.     

A fatal case of Churg–Strauss syndrome presenting with acute polyneuropathy mimicking Guillain–Barré syndrome

A 64-year-old woman, with asthma and sinusal polyposis in her history, suddenly developed a painful polyneuropathy with diplopia. Nerve conduction studies, performed at the very onset of the neuropathy, could not definitely rule out a Guillain–Barré syndrome (GBS) and high-dose i.v. immunoglobulins were administered. Clinical and laboratory findings subsequently supported the diagnosis of Churg–Strauss syndrome; corticosteroid therapy was started and clinical stabilisation of neuropathy was apparently achieved. No indicators of unfavourable outcome were present at that time. Nevertheless, 30 days after the onset the patient acutely worsened with severe polyneuropathy relapse and fatal systemic diffusion to heart, kidney and mesenteric district, which a single cyclophosphamide pulse failed to control. This case highlights the possibility that a GBS-like onset of Churg–Strauss syndrome neuropathy should be regarded as a part of multiorgan, severe or even life-threatening vasculitic involvement, requiring the most aggressive treatments, regardless of the presence of recognised factors of poor outcome.     

Neural correlates of recovery from Foix–Chavany–Marie syndrome

Cerebral reorganization during recovery after stroke has been investigated using functional imaging in patients with subcortical motor stroke. The functional correlates of recovery from anarthria, however, are yet unknown. A 48-year-old male patient recovering from complete anarthria after unilateral right-sided subcortical hemorrhagic stroke is described. The main outcome measures included clinical and neuroimaging data at three different time points (at the onset of symptoms, after 6 weeks and after 6 months). At 6 weeks, increased activations in the right and left frontal operculum were found and were followed by a trend towards normalization of the activation pattern at 6 months. These results suggest a role of anterior opercular regions in recovery from anarthria after subcortical stroke. Moreover, complete recovery is possible after such lesions.     

Entrapment neuropathies and polyneuropathies in joint hypermobility syndrome/Ehlers–Danlos syndrome

ObjectiveThis study aims to investigate the involvement of the peripheral nervous system in Ehlers–Danlos syndromes/hypermobility type patients with particular attention to entrapment syndromes.MethodsWe consecutively enrolled Ehlers–Danlos syndromes/hypermobility type patients. Patients underwent clinical, neurophysiological and ultrasound evaluations. Dynamic ultrasound evaluation was also performed in healthy subjects as control group.ResultsFifteen Ehlers–Danlos syndromes/hypermobility type patients and fifteen healthy subjects were enrolled. Most of patients presented tingling, numbness, cramps in their hands or feet. Clinical evaluation was normal in all patients. One patient was affected with carpal tunnel syndrome and one with ulnar nerve entrapment at elbow. One patient had an increased and hypoechoic ulnar nerve at elbow at ultrasound evaluation. Dynamic ultrasound evaluation of ulnar nerve at elbow showed, in patients, twelve subluxations and three luxations. In the control group dynamic evaluation showed one case of ulnar nerve luxation.ConclusionStatistical analysis showed a significant difference in the occurrence of ulnar nerve subluxation and luxation between patients and control subjects.SignificanceThe study shows an inconsistency between symptoms and neurophysiological and ultrasound evidences of focal or diffuse nerve involvement. The high prevalence of ulnar nerve subluxation/luxation at elbow in Ehlers–Danlos syndromes/hypermobility type patients could be explained by the presence of Osborne ligament laxity.     

Bilateral anterior opercular (Foix–Chavany–Marie) syndrome

The bilateral anterior opercular (Foix–Chavany–Marie) syndrome is a rare condition most commonly encountered after bilateral middle cerebral artery stroke. Clinically, the syndrome is characterised by a loss of voluntary control of the facio-pharyngeo-glosso-masticatory muscles, while reflex movements and limb strength are preserved. We report the clinical presentation of a patient with anterior biopercular syndrome due to a bilateral middle cerebral artery stroke.     

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