Congenital absence of pain perception is a rare phenotype. Here we report two unrelated adult individuals who have a previously unreported neuropathy consisting of congenital absence of pain with hyperhidrosis (CAPH). Both subjects had normal intelligence and productive lives despite failure to experience pain due to broken bones, severe cold or burns. Functional assessments revealed that both are generally hypesthetic with thresholds greater than two standard deviations above normal for a several of modalities in addition to noxious stimuli. Sweating was 3 to 8-fold greater than normal. Sural nerve biopsy showed that all types of myelinated and unmyelinated fibers were severely reduced. Extensive multi-antibody immunofluorescence analyses were conducted on several skin biopsies from the hands and back of one CAPH subject and two normal subjects. The CAPH subject had all normal types of immunochemically and morphologically distinct sensory and autonomic innervation to the vasculature and sweat glands, including a previously unknown cholinergic arterial innervation. Virtually all other types of normal cutaneous C, Adelta and Abeta-fiber endings were absent. This subject had no mutations in the genes SCN9A, SCN10A, SCN11A, NGFB, TRKA, NRTN and GFRA2. Our findings suggest three hypotheses: (1) that development or maintenance of sensory innervation to cutaneous vasculature and sweat glands may be under separate genetic control from that of all other cutaneous sensory innervation, (2) the latter innervation is preferentially vulnerable to some environmental factor, and (3) vascular and sweat gland afferents may contribute to conscious cutaneous perception.

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Objectives To determine the number of inappropriate requests for electroencephalography (EEG) and whether guidelines on use could reduce this number. Design Audit with retrospective and prospective components. Setting EEG department in district general hospital and centre for neurology and neurosurgery. Participants Retrospective: 368 at the general hospital and 143 patients at the neurology centre. Prospective: 241 patients undergoing EEG at the general hospital. Interventions Guidelines for EEG issued to users of service at the general hospital. Outcomes Retrospective: differences in requesting practice, result in different clinical scenarios, relative roles of procedure, clinical acumen in establishing diagnosis, usefulness of procedure. Prospective: change of requesting practice, impact on use. Results There were considerable differences in requesting practice. Non-specialists seem to use EEG as a diagnostic tool, especially in patients with "funny turns," when it is much more likely to yield potentially misleading than clinically useful information. The overall proportion of procedures considered to influence management, to be justifiable, and to be inappropriate were 16% (59), 28.3% (104), and 55.7% (205), respectively. In the prospective study the total number of requests was significantly reduced ( 2 = 33.85, df = 5, P < 0.0001), mainly because of fewer requests in patients with non-specific "funny turns" ( 2 = 21.90, df = 6, P = 0.0013). There was a concomitant change in the usefulness of EEG ( 2 26.99, df = 2, P < 0.0001). Conclusions This original audit informed clinical practice and had potential benefits for patients, clinicians, and provision of service. Systematic replication of this project, possibly on a regional basis, could result in financial savings, which would allow development of accessible local neurophysiology services.

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We report the virological and clinical features of 8 children who presented with adenovirus-associated acute flaccid paralysis (AFP) during an epidemic of enterovirus type 71 (EV71)-associated hand-foot-and-mouth disease (HFMD) in Sarawak, Malaysia, in 1997. Neutralization tests and phylogenetic analysis revealed adenovirus type 21 (Ad21), although DNA restriction digests suggested that this virus was different from the prototype Ad21. Four children had upper-limb monoparesis, 2 had lower-limb monoparesis (one of whom had changes in the anterior spinal cord noted on magnetic resonance imaging), and 2 had flaccid paraparesis. At follow-up, 4 children were noted to have made full recoveries and 3 had residual flaccid weakness and wasting. Neurophysiological investigation revealed a mixture of axonal and demyelinating features in motor and sensory nerves, with denervation. These findings suggest that Ad21 might cause AFP by anterior horn cell damage or neuropathy of the brachial or lumbosacral plexus. The occurrence of these unusual adenovirus infections during an outbreak of EV71-associated HFMD suggests that an interaction between the 2 viruses may have occurred.