[Three infants with constipation and muscular weakness: infantile botulism]. / 3 zuigelingen met obstipatie en hypotonie: infantiel botulisme.

Two previously healthy infants, a boy of 10 weeks and a girl of 4 months presented with apathy and muscle weakness. A third previously healthy child, a girl of 6 weeks old was admitted with respiratory insufficiency. None of the three had had a bowel movement for a number of days. After extensive investigations which revealed few abnormalities Clostridium botulinum toxin was obtained in serum from all three children. Type-B-toxin was shown in the faeces of the older girl and boy; both recovered quickly. The other girl had type-A toxin; she died. Two of the three children were given honey to comfort them. Infantile botulism must be considered in every infant with symptoms of constipation and hypotonia. The diagnosis can quickly be confirmed by electromyography with repetitive 50-Hz-stimulation. Honey is a well-known source of the C. botulinum spore and should not be given to children under the age of 12 months. These three children are the first cases to be described in the Netherlands.

Relaxation time of the adductor pollicis muscle in Duchenne muscular dystrophy carriers: a new method for detecting carriers.

The half relaxation time (T1/2R) of adductor pollicis muscle contraction after supramaximal ulnar nerve stimulation was measured in normal women and carriers of Duchenne muscular dystrophy. The T1/2R after a single stimulus did not differ in these two groups. The decrease of T1/2R after 2-per-second stimulations, however, was significantly greater in the carriers. The percentage of the T1/2R decrease after 2-per-second stimulations in all of the carriers was below the mean -2 SD value for the controls. These findings suggest that determination of the decrease of the T1/2R of the adductor pollicis muscle with 2-per-second stimulations of the ulnar nerve may be a reliable method for detecting Duchenne muscular dystrophy carriers.

Infantile and adult-onset acid maltase deficiency occurring in the same family.

A 16-week-old girl died from the infantile form of acid maltase deficiency (Pompe disease, acid alpha-glucosidase deficiency). Her paternal grandfather was well until the age of 53 years, when he started to suffer from the adult-onset form of the same enzyme deficiency. This observation suggests that the infantile and adult-onset forms of acid maltase deficiency are genetically related.

Polyneuropathy after massive exposure to parathion.

Many organophosphorus compounds, including the organophosphate insecticides, may cause polyneuropathy of delayed onset. An exception is parathion, which has been considered the prototype of nonneurotoxic cholinesterase inhibitors. Nevertheless, we describe a patient with delayed polyneuropathy after suicidal ingestion of parathion.

Botulinum toxin versus trihexyphenidyl in cervical dystonia: a prospective, randomized, double-blind controlled trial.

BACKGROUND: Botulinum toxin type A (BTA) is replacing trihexyphenidyl as the treatment of choice for idiopathic cervical dystonia (ICD), but there has never been a direct comparative study. METHODS: This trial compares the effectiveness of BTA with that of trihexyphenidyl in a prospective, randomized, double-blind design. Sixty-six consecutive patients with ICD were randomized to treatment with trihexyphenidyl tablets plus placebo injection or placebo tablets plus BTA injections. Tablets were administered daily according to a fixed schedule. Dysport or saline was injected under EMG guidance at study entry and again after 8 weeks. Patients were assessed for efficacy at baseline and after 12 weeks by different clinical rating scales. RESULTS: Sixty-four patients completed the study, 32 in each group. Mean dose of BTA was 292 mouse units (first session) and 262 mouse units (second session). Mean dose of trihexyphenidyl was 16.25 mg. The changes on the Disability section of the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS-Disability) (primary outcome), Tsui Scale, and the General Health Perception Subscale were significantly in favor of BTA. More patients treated with BTA had an improvement of at least three points on the TWSTRS-Disability (14 versus 6) and on the Tsui Scale (23 versus 12). Adverse effects were significantly less frequent in the BTA group. CONCLUSION: BTA is significantly more effective in the treatment of ICD, with less adverse effects.

Inferior and superior gluteal nerve paresis and femur neck fracture after spondylolisthesis and lysis: a case report.

A 33-year-old woman is presented with spondylolisthesis of L4 on L5 with osteolysis of the L4 vertebra, left-sided superior and inferior gluteal nerve paresis and a fracture of the neck of the left femur. The gluteal muscle paresis was thought to be caused by an entrapment of the gluteal nerves through the piriformis muscle, as a consequence of the lumbar lordosis and inadequate stabilization of the back. The femoral fracture was explained by lack of the compensating action of the paretic gluteal muscles, through which an abnormal strain on the femoral neck occurred while climbing a staircase. Innervation disturbance of the superior part of the femoral neck, which is normally innervated by the superior gluteal nerve, might also be a causative factor in the occurrence of this fracture.

Dominant inherited distal spinal muscular atrophy with atrophic and hypertrophic calves.

The clinical, electrophysiological, radiological and morphological data of 3 members of a family with autosomal dominant distal spinal muscular atrophy (DSMA) are reported. One patient has the clinical picture of peroneal muscular atrophy with atrophic calves. His father and sister suffer from cramps and fasciculations of the calves with true neurogenic muscular hypertrophy of the calves. The electromyogram and the biopsy specimen are conclusive for motor neuron disease in this family. These findings suggest that the DSMA variant as described by D'Alessandro et al. (Arch. Neurol. (1982) 39: 657-660), concerning benign spinal muscular atrophy with hypertrophy of the calves, has to be considered as a mild manifestation of DSMA.

Glycogenosis type II: the infantile- and late-onset acid maltase deficiency observed in one family.

The concurrence of the infantile and adult form of acid maltase deficiency in one family is presented. The muscle of both cases possesses residual activity. The glycogen amount in the infantile form is increased tremendously, while in the late-onset the amount of glycogen is normal.

Hemifacial spasm: intraoperative electromyographic monitoring as a guide for microvascular decompression.

OBJECTIVE: Microvascular decompression is the logical and well-accepted treatment of choice for hemifacial spasm (HFS). In experienced hands, good to excellent results can be obtained. However, sometimes the exact site of the vascular compression is unclear. The aim of this study was to analyze whether intraoperative monitoring by stimulated electromyography of the facial nerve may help to improve the results of vascular decompression for HFS. METHODS: In a series of 74 patients operated for HFS, the impact of intraoperative facial nerve monitoring on the surgical procedure was analyzed by use of the clinical and operative patient records. The role of this type of monitoring, with assessment of the so-called abnormal muscle response, was broken down into four categories: a guiding, a confirming, an indirect confirming, or an inconclusive role. The relationship between abnormal muscle response monitoring results and final surgical outcome was analyzed. RESULTS: The overall cure rate was 87.8%, including patients who had previously undergone unsuccessful operations. Complications were minor, and hearing impairment was found in 2.7% of patients. A guiding role of intraoperative monitoring was apparent in 33.8% of patients, and a confirming role was demonstrated in 52.7% of patients, which resulted in a positive contribution of approximately 87% for intraoperative facial monitoring in microvascular decompression for HFS. In patients defined as guiding cases, the cure rate was 92%. CONCLUSION: This study demonstrates the applicability and usefulness of intraoperative facial nerve monitoring in microvascular decompression operations for HFS.

P300 component identification using source analysis techniques: reduced latency variability.

P300 latency variability in normal subjects is a complicating factor in clinical event-related potential studies because it limits diagnostic applicability. The current study was conducted to determine whether identification of P300 (P3A and P3B) components using source analysis techniques can reduce variability in P300 parameters. Data were recorded with a 128-channel EEG system in 18 healthy subjects. The authors used a standard, auditory two-tone oddball paradigm with targets of 2000 Hz and standards of 1000 Hz. Two simple source analysis models with one or two rotating dipoles were applied to grand average data and individual data. Dipole time courses were combined with mapping results to extract P3A and P3B component latencies. Latencies obtained with conventional P300 analysis were compared with source analysis results. The source analysis method identified both P3A and P3B components in a substantially larger percentage of subjects (88% vs. 33%) than the conventional method. The source analysis method yielded a later mean P3B latency (357 msec vs. 323 msec, P < 0,001) with a smaller standard deviation (9 msec vs. 23 msec, P = 0,003) than the conventional P300 method. The relative contribution of the temporally separate P3A and P3B components to the P300 complex amplitude is highly variable. This explains the larger latency standard deviation in conventional P300 analysis. The source analysis method was able to identify P300 components in a large percentage of the cases. The result is a considerable reduction of P300 latency variability in normal subjects. This could have important consequences for clinical event-related potential research, because diagnostic sensitivity and specificity of P300 latency may improve with this method.

Opsoclonus-induced occipital deactivation with a region-specific distribution.

The cerebral distribution of 2-[18F]fluoro 2-deoxy-D-glucose (FDG) uptake in a patient with opsoclonus was measured by positron emission tomography (PET) and subsequently compared with the distribution in ten normal subjects. Statistical parametric mapping (SPM) revealed a decreased occipital FDG uptake in the patient, particularly at the posterior bank of the parieto-occipital sulcus (putative visual area PO/V6), in the region ventrally bordering V5, and anterolaterally in the calcarine sulcus. Such a specific pattern of occipital deactivation may indicate that opsoclonus suppresses the processing of visual motion along the magnocellular pathway. This is in agreement with normal saccadic suppression which has been proposed to contribute to the perception of a stable visual space.

Hyperthermic isolated regional perfusion of the limb with carboplatin.

AIMS: To investigate the feasibility of hyperthermic isolated regional perfusion (HIRP) with carboplatin in the management of locally recurrent and/or intransit metastases of melanoma or locally advanced soft tissue sarcoma. METHODS: Three patients, two with locally advanced melanoma and one with a low-grade liposarcoma of the lower extremity, were treated with HIRP under mild hyperthermia (39-40 degrees C) with 125 mg carboplatin/l perfused limb volume. RESULTS: No systemic toxicity was observed. Local toxicity consisted of post-perfusion oedema present in all three patients which resolved within 2 weeks. Clinically, a persistent local neuropathy was observed in all three patients, two of which were confirmed by electromyogram and nerve conduction study. Severe motor-sensory neuropathy was located mainly in the peroneal and sural nerves of the perfused limbs. Pharmacokinetic parameters of the carboplatin showed a higher concentration of carboplatin in the skin compared to the muscle. The two melanoma patients showed a complete response but developed local recurrences within 1.5 years after perfusion. The third patient underwent a delayed excision of the sarcoma 8 weeks after perfusion which revealed 50% viable tumour. One of the melanoma patients and the sarcoma patient died from lung metastases 56 and 31 months post-perfusion treatment, respectively. The other melanoma patient is alive 95+ months post-perfusion treatment. CONCLUSIONS: The local neurotoxicity observed did not warrant further research of carboplatin in HIRP.

The prognostic value of serial EEG recordings following acute neonatal asphyxia in full-term infants.

Perinatal asphyxia is one of the major causes of non-progressive neurological deficits seen in children. It is reported that currently no set of parameters allowing for accurate prediction of prognosis following severe perinatal asphyxia is available. Even electroencephalogram (EEG) recordings, which are known to give a fairly good prediction of long-term outcome, have their flaws. The aim of this prospective study was to evaluate the additional value of serial EEGs in full-term infants. In all, 36 infants were enrolled. All met strict entrance criteria, received standard treatment and underwent two EEGs according to a pre-set protocol: the first between 12 and 36 hours post-partum, the second between 7 and 9 days post-partum. It is clearly demonstrated that serial EEG recordings do enhance the prognostic value of the EEG. Moreover, distinct progression seen in serial EEGs is highly prognostic for a normal outcome and has even more prognostic value than one single severely abnormal EEG. A better indication of future outcome is obtained from serial EEGs.

Mild axonal neuropathy of children during treatment for acute lymphoblastic leukaemia.

Neurophysiological functioning was studied prospectively in children treated for acute lymphoblastic leukaemia with a low dose vincristine regime (8 x 1.5 mg/m2/dose), to obtain more insight into vincristine neuropathy. A WHO neurotoxicity score was estimated and vibration sense and electrophysiological measurements were taken at standardized times during vincristine treatment. The WHO neurotoxicity score showed decreased or disappearance of Achilles tendon reflexes, and mild sensory disturbances, but a grade 3-4 neurotoxicity was not demonstrated by any of the children. Vibration perception thresholds increased progressively during treatment and amplitudes of action potentials of peroneal and sensory ulnar and median nerves decreased, whereas nerve conduction velocities stayed unchanged. Both vibration perception thresholds and the electrophysiological findings hardly exceeded the limits of normality. We conclude that children treated for acute lymphoblastic leukaemia with a low dose vincristine regimen have mild axonal neuropathy which may be responsible for the motor problems in these children.

Ocular dipping.

Ocular dipping consists of cycles of eye movements occurring spontaneously, which are characterized by a slow conjugated downward deviation followed after a delay by a quick return to mid position. Ocular dipping is only described in unconscious patients, especially in anoxic comata. Three new patients with this syndrome are described. Electronystagmographic registrations are shown.

Saccadic oscillations associated with the quick phases of caloric nystagmus in severe diffuse brain damage.

Caloric nystagmus patterns associated with ocular dysmetria, ocular flutter or flutter dysmetria were studied in ten patients being in a vegetative state, among whom were 9 patients with head injury and 1 with complications caused by a grand mal status. Brain damage was complicated by hypoxemia and especially by brain stem herniation. It was more often observed in very young children and appears to be associated with a poor clinical course. Physostigmine seems to have an activating and provocating effect on these saccadic oscillations. In view of Zee and Robinson's hypothesis on the pathophysiology of saccadic oscillations, it is suggested that these nystagmus patterns may reflect a disturbance of brain stem midline structures (pausing neurons) or an abnormal supranuclear (cerebellum) control.

Axial apraxia, a distinct phenomenon.

Three Parkinson patients who continued to have difficulties with turning in the horizontal plane despite adequate and therapeutically effective levodopa treatment are presented. The handicap of the disordered axial rotation, to be considered an elementary displacement of the body, could be alleviated by alternative motor strategies or overcome by specific extra stimuli or tactile guidance but not physiotherapeutically restored. On the basis of these clinical observations it is argued that these axial movement abnormalities are apraxic.

Electro-oculographic study of caloric vestibular reactions in patients with severe head injuries.

In this study electro-oculographic recordings were made after caloric vestibular stimulation (C.O.G.) in 42 patients with severe head-injuries. The curves with eyes open and the changes when eyes were closed were evaluated and scored. A correlation was found between the C.O.G. and the state of consciousness but only the degree of improvement of the C.O.G. showed a good correlation with the clinical improvement. The presence of a paradoxical response in patients with a prolonged coma was found to predict possibilities of further improvement. It was proposed that in the patients with a paradoxical response a rather diffuse biochemical dysfunction of the brain-stem was present, which could be influenced by treatment. In the second part of this study the results of the trials with a treatment with L-Dopa and physostigmine are given. It was found that patients in a vegetative state or in a state of prolonged coma could be stimulated with the therapy only when the paradoxical response had been present. L-Dopa and physostigmine respectively improved the motor pattern and the contact activities.

Lacrimal sweating in a patient with Reader's syndrome.

A patient is described with a right-sided Reader's syndrome and extensive sweating in the frontal area above the right eye. This pathological sweating can be explained by sprouting of lacrimal parasympathetic fibres in the previous denervated sympathetic sudomotor pathways to that area.

Idiopathic spasmodic torticollis: a survey of the clinical syndromes and patients' experiences.

We evaluated the medical and psychosocial experiences of 59 patients with idiopathic spasmodic torticollis (ST) by means of a structured questionnaire. The results generally corresponded with those of other studies in the literature. Diagnosis is delayed in many patients, and ST negatively influences the patients' social lives. Because drug treatment and physiotherapy are only of sufficient value in a minority, most patients seek benefit from numerous other therapies, none of which has been shown to improve ST.