Acute bulbar palsy as a variant of Guillain-Barré syndrome.

OBJECTIVE: To categorize a syndrome manifesting as prominent acute bulbar palsy (ABP) without limb motor weakness as a variant form of Guillain-Barré syndrome (GBS) and differentiate it from Miller Fisher syndrome (MFS) and pharyngeal-cervical-brachial (PCB) variants. METHODS: We analyzed cases of ABP without limb motor weakness based on a dataset containing clinical information and the results of antiganglioside antibodies assays for acute immune-mediated neuropathies. RESULTS: Eleven cases with an age at onset ranging from 18 to 65 years (mean 33.8 years) were identified as ABP-plus syndrome. All of the enrolled cases manifested with ABP as the predominant symptom, and with no limb weakness. The following features accompanied ABP in order of decreasing frequency: ophthalmoplegia (n = 9, 82%), ataxia (n = 9, 82%), and facial palsy (n = 6, 55%). An enzyme-linked immunosorbent assay study disclosed that immunoglobulin G (IgG) anti-GT1a antibodies were the most frequent (n = 11), followed by IgG anti-GQ1b antibodies (n = 6). CONCLUSIONS: We propose that ABP-plus syndrome without neck or limb weakness is a variant of GBS that is distinct from the MFS and PCB variants. The presence of IgG anti-GT1a antibodies can explain the relationships between the distinct clinical characteristics and the underlying pathomechanisms.

The clinical course of progressive bulbar palsy.

Our objective was to study the clinical course of patients diagnosed with progressive bulbar palsy (PBP). We reviewed all 392 medical records of ALS patients seen between 1 January 2000 and 31 July 2007. Patients with isolated PBP at presentation were selected and classified into those with normal EMG of the limbs (PBP-N) and those with active denervation on EMG (PBP-A). We studied the time to progression of these patients to ALS. We compared patients with PBP-N to patients with PBP-A. Fifteen patients were diagnosed with PBP-N. The remaining 17 had PBP-A. Thirteen of the 15 patients with PBP-N (87%) progressed to definite ALS. The two patients who did not progress to ALS died at 22 and 60 months, respectively. The median survival time was 35 months for the PBP-N group and 40 months for the PBP-A group (p = 0.92). Except for the rate of depression, patients with PBP-N did not differ from patients with PBP-A in the basic demographics, time of presentation, clinical course, survival and treatment received. All patients with FTD died within 40 months of onset of symptoms. In conclusion, almost all PBP patients progress to ALS regardless of the presence of upper motor signs or generalized denervation on EMG of the limbs.

Worster-Drought and congenital perisylvian syndromes-a continuum?

A 5-year-old female was evaluated because of severe speech and expressive language delay. On examination, she could hardly speak and communicated through gestures. She manifested severe dysarthria and difficulty in protruding and moving her tongue laterally. She lacked coordination of the swallowing process, with drooling and an increased mental reflex. Her cognitive development was normal, and no associated neurologic dysfunction of the limbs was noted. On follow-up, the child experienced two episodes of seizures at 6 years of age. Magnetic resonance imaging of the brain demonstrated perisylvian and frontal polymicrogyria. Clinical and radiologic findings demonstrated a similarity and continuum between congenital suprabulbar paresis (Worster-Drought syndrome) and perisylvian syndrome.

Worster-Drought syndrome, a mild tetraplegic perisylvian cerebral palsy. Review of 47 cases.

A retrospective case-note analysis was undertaken of 47 children with a congenital upper motor neurone bulbar palsy (excluding pure speech dyspraxia) to clarify the phenotype of Worster-Drought syndrome (WDS) and to record its associated features and complications. The results revealed that the study children had significant bulbar problems (with 80% still needing a modified diet and a similar number using augmentative communication methods at last review). There were also high rates of predictable bulbar complications (86% had dribbling, 60% had glue ear, gastro-oesophageal reflux in 40%, history of poor nutrition in 40% and aspiration in 40%). Most of the children had additional complex impairments (91% had mild pyramidal tetraplegia, 81% learning difficulties, 60% congenital defects, 41% neuropsychiatric problems and 28% epilepsy). Over half of the children had significant medical problems in the first year, but mean age at diagnosis was 6 years. There were no obvious causes in pregnancy or birth. Six children had a family history of WDS and 32% (12/37) had abnormal neuroimaging including five with bilateral perisylvian polymicrogyria. In our experience, WDS is not uncommon, is relatively easily diagnosed and is crucial not to miss as the management of these children's multiple impairments is complex and requires a careful team approach. WDS falls clearly within the cerebral palsies as a syndrome that includes motor impairment arising from static damage to the brain in early life. The common presence of cognitive, behavioural and seizure impairments strongly supports the cerebral cortical (presumably perisylvian) localization. Its core elements are a suprabulbar paresis, a mild spastic tetraplegia and a significant excess of cognitive and behavioural impairments and epilepsy. The complete overlap in phenotype between WDS and the bilateral perisylvian syndrome leads us to propose that they are the same condition. WDS is startlingly absent from epidemiological studies of the cerebral palsies and rarely diagnosed, presumably because of lack of clinical awareness of the condition and lack of major gross motor impairments.

Motor neuron disease: classification and nomenclature.

The classification and nomenclature of motor neuron disease, whether sporadic or familial, is confused. For example, both the sporadic and familial motor neuron diseases are phenotypically heterogeneous and, in familial ALS, phenotypic heterogeneity correlates only weakly with different underlying mutations in the SOD1 gene. We propose a classification which is based on underlying causative mechanisms, where these are known, but which also recognizes different clinical phenotypes when the cause is unknown. This classification is flexible, and allows reattribution of clinical syndromes when their causation is understood. Currently uncertain associations--for example, a possible association of ALS with cancer--are given tentative recognition in this classification. In addition, this new classification recognizes geographical clustering and descriptions of unusual motor neuron disorder phenotypes of unknown origin in different parts of the world.

The Scottish Motor Neuron Disease Register: a prospective study of adult onset motor neuron disease in Scotland. Methodology, demography and clinical features of incident cases in 1989.

The Scottish Motor Neuron Disease Register (SMNDR) is a prospective, collaborative, population based study of motor neuron disease (MND) in Scotland. The register started in January 1989 with the aim of studying the clinical and epidemiological features of MND by prospectively identifying incident patients. It is based on a system of registration by recruitment from multiple sources, followed by the collection of complete clinical data and follow up, mainly through general practitioners. In this report the register's methodology and the demography and incidence data for the first year of study are presented. One hundred and fourteen newly diagnosed patients were identified in 1989 giving a crude incidence for Scotland of 2.24/100,000/year. Standardised incidence ratios showed a non-significant trend towards lower rates in north eastern regions and island areas.

[Nosologic classification of Fazio-Londe disease]. / Uber die nosologische Einordnung der Fazio-Londe-Krankheit.

The observation of a progressive bulbar paralysis with lethal exit in a 20 years old patient, whose mother had died in the age of 29 years after a similar course of disease, is coordinated as Fazio: Londe-disease. But peculiarities are mentioned, that refer to traits of the special form of progressive bulbar paralysis described by Kennedy and of Kugelberg-Welander-disease. A genetic basis of variability is supposed.

[Progressive bulbar paralysis. Report of a juvenile case (author's transl)]. / Les paralysies bulbaires progressives juvéniles. A propos d'une observation.

The authors report the case of a 16 year-old girl with the following features: clinically, a progressive bulbar paralysis, a weakness and wasting of muscles predominantly in the upper limbs; pathologically, a severe neuronal loss in the motor nuclei of the VIIth, IXth, XIIth cranial nerves and in the anterior horns of the cervical and thoracic spinal cord, a demyelinisation of the corticospinal tracts. A classification of progressive bulbar paralysies in infants and children is proposed. In the first group, the peripheral motoneuron is the only involved. Such cases are often called Fazio-Londe disease and can be related to those cases of infantile spinal amyotrophy either of the Werdnig-Hoffmann type or, most often, of the Wolfhardt-Kugelberg type. In the second group, the corticospinal tract is also involved. Some of these cases can be included in the spinocerebellar degenerations but others, such as the case reported here, are strongly reminiscent of the adult amyotrophic lateral sclerosis.