Utility of a patient survey in identifying fluctuations in early stage Parkinson's disease.

Motor and non-motor fluctuations are well known sequelae of dopaminergic therapies for Parkinson's disease (PD), particularly during the advanced stages. However, the prevalence of fluctuations early in the treatment course has been less well recognised and may be missed clinically if not specifically probed. We examined the used of a survey for this purpose. Patients to be surveyed were recruited by neurologists and geriatricians at 20 Australian centres. Patients had a diagnosis of idiopathic PD with a duration of fewer than 5 years and were considered by their treating physician to be non-fluctuating or had no change in their treatment plan in the prior 6 months. Patients, with or without assistance, completed a 19-item wearing-off questionnaire to assess the presence of motor and non-motor fluctuations that indicated early wearing-off. Investigators assessed the usefulness of the questionnaire in detecting fluctuations and guiding PD treatment. Of 105 patients recruited, 92 were eligible for analysis. There were 56 (61%) identified as having fluctuations. Patients with wearing-off were younger (mean 67 vs 72 years), and more likely to have had PD for more than 3 years. About half the patients (49%) were able to complete the questionnaire independently. Clinicians perceived the questionnaire as useful for detecting fluctuations and adjusting treatment. A simple and easily administered wearing-off questionnaire may be useful in the early detection of fluctuations in PD patients and assist in guiding therapy.

Rasmussen's syndrome in a 54 year old female: more support for an adult variant.

Rasmussen's syndrome, a syndrome of chronic focal encephalitis, is usually considered to be a disease of childhood. Typical features include intractable focal seizures and progressive unilateral neurological deficits with radiological evidence of focal cortical atrophy. This report documents the case of the oldest patient yet described in the literature with Rasmussen's syndrome. Magnetic resonance imaging revealed gadolinium enhancing tissue, not previously described in this condition.

Cerebral histoplasmosis in an Australian patient with systemic lupus erythematosus.

A 39-year-old woman with systemic lupus erythematosus suffered a prolonged neurological illness associated with very low levels of glucose in her cerebrospinal fluid (CSF). Six months later, and after numerous CSF investigations, Histoplasma capsulatum was cultured. To our knowledge, this is the first report of cerebral histoplasmosis in Australia in a patient who is not HIV positive.

Charcot-Marie-Tooth disease and Noonan syndrome with giant proximal nerve hypertrophy.

We report a family with Noonan syndrome (NS), giant proximal nerve hypertrophy, and hereditary motor sensory neuropathy type 1A (HMSN1A). Five members of a family were found to have clinical features of NS. In all cases, NS was associated with giant hypertrophy of proximal nerves and two individuals also exhibited café-au-lait spots. In one case, an 8-to-10-cm diameter pelvic mass was shown to be a grossly hypertrophied nerve, with histologic features of demyelination and remyelination. In addition, four of five family members affected with NS were found to have HMSN1A clinically and by demonstration of constitutional HMSN1A duplication on DNA testing. Linkage analysis for NS ruled out the involvement of the neurofibromatosis type 1 gene and the known NS locus in chromosome 12, supporting the existence of an additional NS locus.

Deep cerebral venous thrombosis presenting as an encephalitic illness.

Three cases of deep cerebral vein thrombosis presenting as encephalitic illnesses are described. Thyrotoxicosis was present in one case, ulcerative colitis in one case and an anticardiolipin antibody was detected in two cases. All three patients were on oestrogen and progesterone. Magnetic resonance imaging and angiography allowed rapid confirmation of the diagnosis and permitted non-invasive follow up of this condition. The first two patients made complete clinical recoveries despite having thalamic infarction, in one case bilaterally, demonstrable radiologically.

Gram-negative meningitis and chronic constipation: an unusual presentation of caudal regression syndrome.

Congenital malformations may present as meningitis caused by enteric organisms, but this is extremely rare and occurs almost exclusively in the paediatric population. We report an unusual case of a young man with chronic constipation presenting with spontaneous Gram-negative meningitis due to an underlying congenital spinal malformation known as the caudal regression syndrome.

Severe botulism after eating home-preserved asparagus.

OBJECTIVE: To present a case of adult botulism acquired in Queensland. CLINICAL FEATURES: After eating home-preserved asparagus, a 33-year-old man presented with internal and external ophthalmoplegia, bilateral facial nerve palsies, and descending muscle weakness culminating in a sudden respiratory arrest. Electrophysiological testing demonstrated normal nerve conduction velocities and an incremental response of evoked motor potentials on repetitive stimulation, confirming the clinical diagnosis of botulism. INTERVENTION AND OUTCOME: Treatment with trivalent antitoxin, oral treatment with vancomycin and supportive mechanical ventilation for four weeks resulted in complete clinical recovery. Plasmapheresis was also used but its contribution to the patient's improvement is dubious. CONCLUSIONS: Although botulism is rare in Australia, clinicians should be aware of the clinical presentation and the rapidity of confirmation of the diagnosis by electrophysiological testing. Patients should be nursed in an intensive care setting. Regular testing of vital capacity should be performed to determine the need for mechanical ventilation.

Status epilepticus.

Status epilepticus, especially the convulsive type, is a medical emergency. Initial treatments include clearing the airway and giving diazepam intravenously (preferably) or rectally. Clonazepam is equally effective. A loading dose of phenytoin should be given to maintain seizure control.

Onset of dialysis encephalopathy in cyclosporine-treated renal allograft recipients.

Three patients who developed typical features of dialysis encephalopathy following renal transplantation are presented. No patient had evidence of overt neurological dysfunction pretransplantation. All patients were taking cyclosporine at the time of onset of neurological disease. Two patients died as a result of their neurological condition. The third patient made a satisfactory recovery. Factors responsible for the onset of dialysis encephalopathy in the renal posttransplantation period are discussed. We propose that cyclosporine may have been an important precipitating factor of the neurological syndrome of these patients.

Paroxysmal cerebellar ataxia.

This report describes the clinical features of 13 cases of periodic, paroxysmal cerebellar ataxia. A family history suggestive of an autosomal dominant disorder was present in 10 cases, the first two reported Australian families involved with this disorder. Variation in the age of onset, frequency of attacks and the presence of distinct symptom complexes within one kindred confirm the heterogeneous nature of this disorder. CT head scans were performed on nine cases and were normal in eight. EEG findings were abnormal in six of nine performed. Treatment with acetazolamide resulted in abolition of paroxysms in nine of the 10 treated cases. In addition, two children had dramatic improvement in previously impaired gross and fine motor skills.

Posterior cortical atrophy.

Two patients had a steadily progressive disorder of higher cortical function dominated by the early development of cortical visual deficits. In one, a right visual inattention progressed over a period of 2 years to a complete right homonymous hemianopia and relative left inferior quadrantanopia. In the second case, blind in the left eye for unrelated reasons, a temporal field loss was noted at presentation in the right eye, with the subsequent development of field loss in the inferior nasal quadrant on that side. Features of Balint's syndrome developed in both patients, with sticky fixation, ocular dysmetria and simultanagnosia. Prominent associated features were progressive dysmnesia, dyscalculia, ideomotor apraxia and spatial disorientation. Abstract reasoning, speech function and insight were all well preserved. MRI and CT scans revealed no focal abnormalities. These cases are similar to the 5 recently described by Benson et al. The pathological basis is unknown but may be an atypical form of Alzheimer's disease.

Traumatic hypoglossal nerve palsy.

Isolated fracture through the atlanto-occipital region is not common and can easily be missed, clinically and radiologically. The long-term outlook from an isolated twelveth nerve palsy has been good in our experience of two cases.

Language disorders in dementia of the Alzheimer type.

The language profile of a group of 18 Alzheimer patients is documented and their performance on a standard aphasia test battery compared to a group of institutionalized, nonneurologically impaired control subjects matched for age, sex, and educational level. The Alzheimer patients scored significantly lower than the controls in the areas of verbal expression, auditory comprehension, repetition, reading, and writing. Articulation abilities were the same in each group. A language deficit was evident in all Alzheimer patients. The language disorder exhibited resembled a transcortical sensory aphasia. Syntax and phonology remained relatively intact but semantic abilities were impaired. The results support the inclusion of a language deficit as a diagnostic criterion of Alzheimer's disease.

Sneddon's syndrome.

A 24 year old woman presented with generalised livedo reticularis and progressive intellectual decline. A CT scan of her head showed multifocal low density areas, consistent with cerebral infarction. Cerebral angiography revealed occlusive disease of major vessels, an arteriovenous malformation, and moya-moya type anastomoses. There was no other associated systemic illness. Sneddon's syndrome was the provisional diagnosis. Her older brother had the same skin condition and was also shown to have occlusive cerebrovascular disease. The pathogenesis and natural history of this uncommon disease are highlighted.

Carotid sinus hypersensitivity in elderly nursing home patients.

Fourteen of 100 geriatric nursing home patients were shown to have evidence of carotid sinus hypersensitivity. The incidence of syncope and falls was noted in prospective follow-up over 33 months. Falls were classified as either simple or complicated by laceration or fracture. Patients experienced simple falls at similar rates whether carotid sinus hypersensitivity was present or absent. For patients with carotid sinus hypersensitivity, the risk of a laceration was increased more than twofold, that of fracture more than threefold, and that of syncope tenfold. Carotid sinus hypersensitivity warrants greater attention as a contributory factor to serious falls and syncope in the elderly; and its importance may have been underestimated in the past.