Significant Residual Disability Research Articles

Epidemiology and characteristics of coral snake bites reported to the National Poison Data System (2006‒2022).

North American coral snake envenomations can result in life-threatening neurotoxicity. Their bites are relatively rare, making large studies difficult. Using the National Poison Data System (NPDS), we sought to investigate the epidemiological trends and clinical outcomes associated with North American coral snake bites over a 17-year period. NPDS cases involving coral snakes from January 1, 2006, to December 31, 2022, were analyzed. Data collected included patient age, date, geographic location, clinical effects, treatments administered, and medical outcomes including incidence of "dry bites" (non-envenomation) and death. During the 17-year period, a total of 1374 cases were reported and analyzed. Cases included adults (≥20 years), accounting for 80% (n=1107), and pediatric patients (≤19 years), accounting for 20% (n=267) of total cases. Out of 50 US states and District of Columbia, 20 states reported cases. Florida and Texas accounted for 90.5% of all bites (n=1243) with April being the month with the most reported cases (n=184). The most bites (n=96) were reported in 2008 and the fewest (n=69) in 2016. Male patients predominated for both pediatric (75.7%, n=202) and adult cases (75.3%, n=834). Moderate to major clinical outcomes were documented in approximately 30% of total cases; with no reported deaths. Moderate effect is defined as the patient exhibited symptoms as a result of the exposure that were more pronounced, more prolonged, or more of a systemic nature than minor symptoms. Major effect was defined as the patient exhibited symptoms as a result of the exposure that were life threatening or resulted in significant residual disability or disfigurement. The three most reported clinical effects were wound/sting, dermal irritation/pain, and edema. Antivenom was administered in 21% (n=286) of total cases and 37% (n=511) of patients were admitted to a critical care unit. Dry bites occurred in 7% (n=100) of total cases. Coral snake bites were rare, but consistently reported. While bites were associated with significant morbidity in adult and pediatric patients, there were no deaths reported. Antivenom use declined over the study period but was not associated with an increase in morbidity. An increased incidence of intubations was seen in association with decreased antivenom use.

Radiological Features of Herpetic Encephalitis in Children

BackgroundNonspecific clinical manifestations and unclear radiological features may delay treatment initiation in pediatric patients with Herpes simplex encephalitis (HSE). The aim of this study is to analyze the clinical and radiological features of the disease. MethodsClinical, laboratory, and magnetic resonance imaging (MRI) data were obtained retrospectively from a group of 37 hospitalized pediatric patients older than two months and with a polymerase chain reaction-confirmed HSE diagnosis. Clinical severity (i.e., mechanical ventilatory support) and outcome at discharge (i.e., pediatric modified Rankin Scale [ped-mRS]) were also assessed. ResultsMedian age was 14 months (interquartile range: 10-36). All patients survived, 15 (41%) had complete recovery (i.e., ped-mRS = 0), and 10 (27%) had significant residual disability at discharge (i.e., ped-mRS ≥3). Brain MRI was obtained in 31 patients. T2-hyperintense lesions were usually bilateral (28, 90%) and multifocal (30, 97%). Hemorrhage and mass effect were observed in 13 (42%) and 15 (48%) patients, respectively. Parenchymal lesions involved the temporal lobes (94%), insula (90%), parietal lobes (84%), and frontal lobes (61%). Occipital lesions were rare. In multivariable binary logistic regression models the presence of altered consciousness was associated with mechanical ventilation (odds ratio [OR] = 8.2, Nagelkerke R2 = 0.22), whereas the involvement of the occipital lobes (OR = 7.8) and the administration of vasopressors (OR = 12.1) were independent predictors of poor outcome (Nagelkerke R2 = 0.41). ConclusionsBrain MRI is useful for diagnosis and outcome assessment in pediatric HSE. Radiological patterns with common frontotemporal involvement overlap adults, but multifocal and parietal lobe abnormalities are observed as well.

Epidemiology, management and outcomes of Cryptococcus gattii infections: A 22-year cohort.

Cryptococcus gattii is a globally endemic pathogen causing disease in apparently immune-competent hosts. We describe a 22-year cohort study from Australia's Northern Territory to evaluate trends in epidemiology and management, and outcome predictors. A retrospective cohort study of all C. gattii infections at the northern Australian referral hospital 1996-2018 was conducted. Cases were defined as confirmed (culture-positive) or probable. Demographic, clinical and outcome data were extracted from medical records. 45 individuals with C. gattii infection were included: 44 Aboriginal Australians; 35 with confirmed infection; none HIV positive out of 38 tested. Multifocal disease (pulmonary and central nervous system) occurred in 20/45 (44%). Nine people (20%) died within 12 months of diagnosis, five attributed directly to C. gattii. Significant residual disability was evident in 4/36 (11%) survivors. Predictors of mortality included: treatment before the year 2002 (4/11 versus 1/34); interruption to induction therapy (2/8 versus 3/37) and end-stage kidney disease (2/5 versus 3/40). Prolonged antifungal therapy was the standard approach in this cohort, with median treatment duration being 425 days (IQR 166-715). Ten individuals had adjunctive lung resection surgery for large pulmonary cryptococcomas (median diameter 6cm [range 2.2-10cm], versus 2.8cm [1.2-9cm] in those managed non-operatively). One died post-operatively, and 7 had thoracic surgical complications, but ultimately 9/10 (90%) treated surgically were cured compared with 10/15 (67%) who did not have lung surgery. Four patients were diagnosed with immune reconstitution inflammatory syndrome which was associated with age <40 years, brain cryptococcomas, high cerebrospinal fluid pressure, and serum cryptococcal antigen titre >1:512. C. gattii infection remains a challenging condition but treatment outcomes have significantly improved over 2 decades, with eradication of infection the norm. Adjunctive surgery for the management of bulky pulmonary C. gattii infection appears to increase the likelihood of durable cure and likely reduces the required duration of antifungal therapy.

Symmetrical peripheral gangrene in a chronic kidney disease patient on hemodialysis

Symmetrical peripheral gangrene (SPG) is a rare but well-described condition characterized by ischemic changes in the distal limbs with preserved flow in the major vessels. It results from thrombosis of the microcirculation resulting from a complex interplay of infectious and non-infectious factors. Often described as a complication of disseminated intravascular coagulation (DIC), it has got multiple aggravating factors. Timely recognition and management is important as significant residual disability is noted in surviving patients. Here, we describe a patient with chronic kidney disease on maintenance hemodialysis presenting with SPG associated with spontaneous bacterial peritonitis and DIC. She had multiple aggravating factors such as hypotension, use of inotropes, and renal failure. As there were no evidence-based guidelines and since the general condition of the patient was poor, she was managed with supportive care.

Major Neurological Syndromes with COVID-19: Lessons to Learn

Objective: Covid-19 is a highly infectious viral disease, and our understanding of the impact of this virus on the nervous system is limited. Therefore, we aimed to do a systematic analysis of the neurological manifestations. Methods: We retrospectively studied the clinical, laboratory, and radiological findings of patients with major neurological syndromes (MNS) in Covid-19 over 6 months. Results: We had 39 patients with major neurological syndromes (MNS). The most common MNS was cerebrovascular disease (CVD) (61.53%), in which ischemic stroke (83.33%), cortical sinus thrombosis (12.50%), and haemorrhagic stroke (4.16%) were seen. Among ischemic stroke patients, 50% had a large vessel occlusion, and 66.66% of patients with CVD had a significant residual disability. Cranial neuropathy (15.38%), GBS (10.26%), encephalitis (7.26%), and myelitis (5.12%) were the other MNS. Among the three encephalitis cases, two had CSF-Covid-19 PCR positivity and had severe manifestations and a poor outcome. Associated comorbidities included hypertension (30.76%), diabetes mellitus (12.82%), chronic kidney diseases (7.69%), and polycythaemia vera (2.56%). Lung involvement was seen in 64.1% of patients. Mortality was 17.94% in MNS with Covid-19. Conclusions: The most common major neurological syndrome associated with Covid-19 is CVD with increased frequency of large vessel occlusion causing significant morbidity and mortality. Simultaneous lung and other systemic involvement in MNS results in a deleterious outcome. Doi: 10.28991/SciMedJ-2022-0401-02 Full Text: PDF

Long-term outcomes after NeuroCOVID: A 6-month follow-up study on 60 patients

Background and purposeLong-term outcomes after neurological manifestations due to COVID-19 are poorly known. The aim of our study was to evaluate the functional outcome and identify the risk factors of neurologic sequelae after COVID-19 associated with neurological manifestations (NeuroCOVID). MethodsWe conducted a multi-center observational study six months after the acute neurological symptoms in patients from the French NeuroCOVID hospital-based registry. ResultsWe obtained data on 60 patients. NeuroCOVID had a negative impact on the quality of life (QoL) of 49% of patients. Age was a predictor of residual QoL impairment (OR: 1.06, 95% CI: 1.01–1.13, p=0.026). At six months, a significant residual disability was found in 51.7% of patients, and impaired cognition in 68.9% of cases. The main persistent neuropsychiatric manifestations were a persistent smell/taste disorder in 45% of patients, memory complaints in 34% of patients, anxiety or depression in 32% of patients. ConclusionsNeuroCOVID likely carries a high risk of long-term neuropsychiatric disability. Long-term care and special attention should be given to COVID-19 patients, especially if they had neurological manifestations during acute infection.

Endovascular clot retrieval for acute ischaemic stroke due to basilar artery occlusion in childhood.

Endovascular clot retrieval (ECR) is an emerging therapy for treatment of acute ischaemic stroke (AIS) in adults, including basilar artery occlusion (BAO). Its role in children is not well established. We report four consecutive children with AIS due to BAO treated with ECR in Sydney, Australia. We reviewed the literature to characterize the 'natural course' of AIS due to BAO in children not treated with thrombolysis or ECR, and compared their outcome with our patients and reported children with BAO treated with ECR. Despite delays in diagnosis, ECR achieved recanalization in our four children. Three children had a good outcome (Paediatric Modified Rankin Score [PedmRS] 0-2). One child with acute leukaemia suffered recurrent basilar occlusion and died of brainstem dysfunction. Literature review identified 111 children exhibiting the natural course of AIS due to BAO, among whom 42% had good outcomes (PedmRS 0-2), 48% had significant residual disability (PedmRS 3-5), and 10% died. Of 34 children treated with ECR, 28 (82%) had good outcomes (PedmRS 0-2), five (15%) had significant residual disability (PedmRS 3-5), and one (3%) died. Complications of ECR were uncommon. These observations suggest ECR may be beneficial for children with AIS due to BAO. WHAT THIS PAPER ADDS: Children with acute ischaemic stroke (AIS) due to basilar artery occlusion (BAO) experience significant morbidity and mortality. Endovascular clot retrieval may be beneficial in children with AIS due to BAO.

118 Case series: subacute combined degeneration of the spinal cord in vitamin B12-replete recreational nitrous oxide abusers

IntroductionWithin a few years of its discovery in late 18th century, nitrous oxide was being used recreationally for its pleasurable effects. It remains in widespread use as an inhaled stimulant today, and can be legally acquired in bulk quantities with relative ease. In the body prolonged exposure to nitrous oxide leads to the oxidization of vitamin B12, rendering it unusable in key enzymatic reactions necessary for myelin synthesis. Over time this qualitative deficiency leads to a central demyelination syndrome that characteristically develops despite normal serum vitamin B12 levels and, with continued exposure to nitrous oxide, resists treatment with vitamin B12 supplementation.MethodNitrous oxide abusers presenting with a central demyelination syndrome were enrolled in this case series. Serum levels of vitamin B12, active B12, folate and homocysteine were measured. Nitrous oxide exposure was discontinued, and all patients were treated in accordance with evidence-based guidelines.ResultsEight patients presented with predominantly moderate-to-severe clinical deficits. The majority were vitamin B12 replete. In most cases individuals had actively engaged in prolonged vitamin B12 supplementation in an attempt to circumvent the harmful pathophysiology, of which they were loosely aware. Following treatment and rehabilitation several patients were discharged into full-time care, and most had significant residual disability at follow-up.ConclusionsThis case series not only illustrates the tragic consequences of abuse of this widely available and legally procured stimulant, but also highlights the futility of pursuing a nominally ‘protective’ strategy of vitamin B12 supplementation in the context of continued nitrous oxide exposure.

Recognizing psychiatric presentations of anti-NMDA receptor encephalitis in children and adolescents: A synthesis of published reports.

The aim of this study was to improve early recognition of anti-N-methyl-d-aspartate receptor encephalitis (anti-NMDArE) in children and adolescents by identifying characteristic temporal patterns of clinical features in patients likely to be referred for psychiatric evaluation. In this form of autoimmune encephalitis, NMDAr hypofunction is caused by autoantibodies to receptor surface components. Clinical outcomes following prompt immunotherapy are usually good, but delayed treatment often results in a protracted course with significant residual disability or death. Anti-NMDArE frequently mimics psychiatric disorders, so most patients are referred initially to a psychiatrist and treated for days or weeks before being correctly diagnosed. A systematic search of PubMed and EMBASE electronic databases identified all published reports of antibody-confirmed anti-NMDArE associated with psychiatric symptoms in patients <19 years old. Redundant reports were eliminated manually. For each patient, the order in which each feature was first observed was ranked relative to others. Median temporal ranks were used to compare the sequencing of individual features and major symptom domains. One hundred and sixty seven cases (121 females) met the inclusion criteria. The most common features were dyskinesias (77.8%), seizures (72.5%), mutism or staring (40.7%), insomnia (39.5%), language dysfunction (36.5%), fever (31.1%), disorientation/confusion (28.7%), reduced arousal (28.1%), and memory disturbance (26.9%). The configuration and temporal sequencing of features were highly variable between individuals. Clinicians need to suspect this disorder: if new behavioral symptoms arise in the context of a recent viral prodrome; if they are accompanied by dyskinesias, seizures or insomnia; or if psychiatric symptoms are unusual (e.g., non-verbal auditory hallucinations).

Microbiological Profile of Septic Arthritis in Adults: Lessons Learnt and Treatment Strategies

AbstractObjective: The aim of this study is to characterise the clinical and microbiological profile of adult patients treated at our orthopaedic unit with septic arthritic between 2006 and 2017. Materials and Methods: A total of 70 patients who were admitted with a diagnosis of septic arthritis between 2006 and 2017 were included in the study. The patients’ clinical and epidemiological characteristics were surveyed; microbiological profile and the complications relating to the patients’ treatment were identified. Results: Septic arthritis was more common among males (83%). About 75% of the patients presented with a history of fever. The knee was the most commonly affected joint (71%), followed by the hip. While C-reactive protein was found to be consistently >75, total blood white blood cell (WBC) counts were found not to be reflective of the presence of infection with a mean WBC count of only 13,561/cu.mm, and Gram stain examination had a poor sensitivity of 47%. Among the co-morbidities, the most prevalent association was with diabetes mellitus. The infectious agent most frequently isolated was Staphylococcus aureus (42.85%). The antibiotic sensitivity pattern has evolved since the early years, with resistant strains becoming increasingly prevalent. Unusually, high incidence of streptococci was noted (30%), contrary to the published literature. One-third of the patients had multi-resistant organisms. Septic arthritis left 70% of the patients with a significant residual disability at 6 months follow-up and had 4.25% mortality. Conclusion: Changing sensitivity patterns of microbes in septic arthritis point to a need for reconsidering empirical antibiotic therapy. Joint damage following infection can lead to significant disability.

Frequency and temporal sequence of clinical features in adults with anti-NMDA receptor encephalitis presenting with psychiatric symptoms.

Anti-NMDA receptor (NMDAr) encephalitis is the most common autoimmune encephalitis in adults. It mimics psychiatric disorders so often that most patients are initially referred to a psychiatrist, and many are misdiagnosed. Without prompt and effective treatment, patients are likely to suffer a protracted course with significant residual disability, or death. This study focuses on the frequency and chronology of salient clinical features in adults with anti-NMDAr encephalitis who are likely to be first evaluated by a psychiatrist because their presentation suggests a primary psychiatric disorder. A systematic search of PubMed and EMBASE databases identified published reports of anti-NMDAr encephalitis associated with prominent behavioral or psychiatric symptoms. After eliminating redundancies, the frequencies and relative timing of clinical features were tabulated. Signs and symptoms were assigned temporal ranks based on the timing of their first appearance relative to the first appearance of other signs and symptoms in each patient; median ranks were used to compare temporal sequencing of both individual features and major symptom domains. Two hundred thirty unique cases (185 female) met study inclusion criteria. The most common features were seizures (60.4%), disorientation/confusion (42.6%), orofacial dyskinesias (39.1%), and mutism/staring (37.4%). Seizures, fever, and cognitive dysfunction were often the earliest features to emerge, but psychiatric features predominated and sequencing varied greatly between individuals. Clinicians should consider anti-NMDAr encephalitis when new psychiatric symptoms are accompanied by a recent viral prodrome, seizures or unexplained fever, or when the quality of the psychiatric symptoms is unusual (e.g. non-verbal auditory hallucinations).

Paediatric neurological melioidosis: a rehabilitation case report

Melioidosis is a rare condition, endemic to northern Australia and south-east Asia, caused by an infection from the bacteria <i>Burkholderia pseudomallei</i>. The largest epidemiological review to date describes 540 cases of melioidosis seen at Darwin Hospital, in northern Australia, over a 20-year period. Of these, 14 (less than 3%) presented with neurological manifestation, with three deaths. Reports of paediatric cases of melioidosis are rarer. In a review of paediatric cases in northern Australia only eight cases were identified in 10 years. Three of these patients presented with neurological melioidosis, of whom two died in hospital. Whilst the literature refers to prolonged periods of hospitalisation for survivors, the trajectory of functional recovery and process of rehabilitation has not been described. This is a case report describing a 14-year-old boy who presented to a remote medical post with acute neurological symptoms (vomiting, severe headache, ataxia, cranial nerve VI and VII palsy) and was referred to the tertiary paediatric hospital in Perth, Western Australia. Cranial magnetic resonance imaging showed an extensive infiltrative lesion in the posterior fossa and hydrocephalus. Diagnosis of neurological melioidosis required isolation of the pathogen by brain biopsy through sub-occipital craniotomy. Medical treatment included surgical management of hydrocephalus, parenteral antibiotic treatment with meropenem and then a prolonged course of oral co-trimoxazole, enteral feeding and tonal management with levodopa-carbidopa and botulinum toxin A injections. Associated neurological signs and symptoms (bradykinesia, tremor, dysphagia, aphasia, hypertonia, exotropia) required intensive rehabilitation to address functional deficits and to promote independence. The purpose of this case report is to document the functional recovery and rehabilitation process of a paediatric case of neurological melioidosis. Knowledge of the recovery pathway is important to add to the understanding of natural history and treatment of this rare disease. Occasions of service and functional assessments were recorded prospectively. Inpatient therapy (932 hours, with 934 occasions of service) was delivered across physiotherapy, occupational therapy and speech pathology over 9 months of an inpatient admission. Initial paediatric functional independence measure (WeeFIM) was 18/126, indicating complete dependence in all physical and cognitive domains. Following 9 months of intensive rehabilitation the WeeFIM was 53/126, indicating significant residual disability. This proved to be a challenge for discharge planning back to a remote region of Western Australia. Paediatric neurological melioidosis can lead to significant disability and long-term dependence, despite the provision of lengthy intensive rehabilitation. This case report highlights the challenges and complexity of the rehabilitation services required to optimise outcomes for this patient and achieve a safe discharge to a remote community where limited support services are available.

Risk of major morbidity and death in older adults with suicidal intent: a cross-sectional analysis from the National Poison Data System, 2000-2009.

To describe suicide-related exposures in older persons according to sex, age, and substance category reported to U.S. poison control centers (PCCs) and report the crude relative risk (RR) of major effects and death from pharmaceuticals and nonpharmaceutical substances after single- and multiple-substance exposures. Cross-sectional analysis of American Association of Poison Control Centers National Poison Data System (NPDS) data. Calls to U.S. PCCs. NPDS cases involving individuals aged 60 and older with an exposure to a pharmaceutical or nonpharmaceutical substance and suicide as the reason (n=46,494). Major effect and death probabilities for single- and multiple-substance exposures to pharmaceuticals and nonpharmaceuticals were determined. In the NPDS, a major effect is defined as symptoms or signs that are life-threatening or resulted in significant residual disability or disfigurement. Crude RRs of major effects or death were estimated for single and multiple pharmaceutical substances in comparison with nonpharmaceutical substances. Single-substance exposures occurred in 53.3% of cases. Overall, 92.3% involved pharmaceuticals and 64.4% involved women. In the total sample, 12.7% (5,895/46,494) of exposures resulted in major effect, and 1.9% (884/46,494) resulted in death. The crude RR of major effects in single-substance pharmaceutical exposures was significantly lower than with nonpharmaceutical exposures (RR=0.54, 95% confidence interval (CI)=0.49-0.59), as was death (RR=0.25, 95% CI=0.20-0.30). For multiple-substance exposures, the crude RR of major effects from pharmaceuticals was similar to that for nonpharmaceuticals (RR=0.92, 95% CI=0.80-1.06), whereas the crude RR of death from pharmaceuticals was significantly lower (RR=0.55, 95% CI=0.40-0.77). These findings can inform suicide prevention strategies that focus on decreasing at-risk older adults' access to dangerous medications and chemicals in the home.

Home, please: A conjoint analysis of patient preferences after a bad hip fracture.

An Australian study of older, community-dwelling women found that 80% would rather be dead than experience loss of independence and nursing home admission after a bad hip fracture. We re-examined this issue using a conjoint analysis approach. We asked older hospital patients with a history of falls, fracture or osteoporosis to imagine they had a hip fracture resulting in significant residual disability. Subjects were asked to rank in order of preference an orthogonal array of nine out of 36 potential outcome scenarios reporting risk of falls, life expectancy, discharge home with support or to a nursing home and family agreement or disagreement with discharge location. Of 192 patients satisfying inclusion criteria, 183 agreed to participate and 97 completed the study. Those who failed to complete the study were older and had lower Mini-Mental State Examination scores than those who completed the study. For the group as a whole, averaged importance scores were: discharge residence 31.3%, length of life 27%, fall risk 26.4% and family preference 15.5%. On average, subjects would be willing to sacrifice approximately 9 months of life in order to return home rather than go to a nursing home. In the present study, older people at high risk for fracture judged that after a bad hip fracture their main priority would be to remain at home.

A review of current evidence in the surgical treatment of migraine headaches.

Migraines affect 18% of women and 6% of men and result in an estimated $1 billion in medical costs and $16 billion productivity loss in the United States annually. Migraine headaches persist as a problem of this scale because pharmacologic treatments for migraines are frequently incompletely effective, resulting in a population of patients with significant residual disability. In the last decade, novel approaches to the treatment of migraines have been developed based on the theory that extracranial sensory branches of the trigeminal and cervical spinal nerves can be irritated, entrapped, or compressed at points throughout their anatomic course, ultimately leading to the cascade of physiologic events that results in migraine. Botulinum toxin (Botox) injection and surgical decompression of these trigger points have been shown to reduce or eliminate migraines in patients who are incompletely treated by traditional medical management. Despite the recent advances made with Botox, this treatment strategy most commonly results in only temporary migraine prevention. However, the evidence supporting the efficacy and safety of permanent surgical decompression of peripheral trigger points is accumulating rapidly, and the overall success rate of surgery has approached 90%. In addition, an abundance of literature investigating the precise anatomical dissections associated with trigger points has been published concurrently. This article reviews the most up-to-date clinical and anatomic evidence available and seeks to provide a comprehensive, concise resource for the current state of the art in the surgical treatment of migraine headaches.

Residual Cognitive Disability after Completion of Inpatient Rehabilitation among Injured Children

To determine the prevalence and nature of residual cognitive disability after inpatient rehabilitation for children aged 7-18 years with traumatic injuries. This retrospective cohort study included children aged 7-18 years in the Uniform Data System for Medical Rehabilitation who underwent inpatient rehabilitation for traumatic injuries in 523 facilities from 2002-2011. Traumatic injuries were identified by standardized Medicare Inpatient Rehabilitation Facility-Patient Assessment Instrument codes. Cognitive outcomes were measured by the Functional Independence Measure instrument. A validated, categorical staging system derived from responses to the items in the cognitive domain of the functional independence measure was used and consisted of clinically relevant levels of cognitive achievement from stage 1 (total cognitive disability) to stage 7 (completely independent cognitive function). There were 13,798 injured children who completed inpatient rehabilitation during the 10-year period. On admission to inpatient rehabilitation, patients with traumatic brain injury (TBI) had more cognitive disability (median stage 2) than those with spinal cord injury or other injuries (median stage 5). Cognitive functioning improved for all patients, but children with TBI still tended to have significant residual cognitive disability (median stage on discharge, 4). Injured children gained cognitive functionality throughout inpatient rehabilitation. Those with TBI had more severe cognitive disability on admission and more residual disability on discharge. This is important not only for patient and family expectation setting but also for resource and service planning, as discharge from inpatient rehabilitation is a critical milestone for reintegration into society for children with serious injury.

Characteristics of neurological manifestations of Behçet's disease: A retrospective monocentric study in Tunisia

ObjectiveThe aim of the present study was to analyze demographic, clinical and genetic features of Behçet's disease patients with neurological involvement through a monocentric study of a homogenous group of hospitalized patients observed in the same department and to compare them with those of other ethnic and geographic groups. MethodsFour hundred and thirty Behçet's disease (BD) patients were retrospectively studied. Diagnosis of BD was made according to the international study group for Behçet's disease criteria. Patients with neurological findings suggestive of involvement of the nervous system by BD were further studied according to clinical examination, laboratory tests and neuroradiological investigations. ResultsNeurological involvement was observed in 121 patients (28.1%). The mean age at neuro-Behçet's disease (NBD) onset was 29.7 years. Average disease duration of BD before neurological manifestations onset was 6.4 years. Male to female ratio was 1.8. Of the 121 NBD patients, parenchymal involvement occurred in 74 patients (61%). Among them 26 (21.4%) presented with brainstem involvement, 24 (19.8%) with hemispheric involvement and 2 (1.6%) with spinal cord involvement. Non-parenchymal NBD occurred in 47 patients (39%). Involvement of the main vascular structures (Vasculo-NBD) was the most common non-parenchymal NBD lesion found in 35 patients (28.9%) consisting of cerebral vein thrombosis (CVT) in 24 cases and cerebral arterial thrombosis in 11 cases. Forty-nine (40.5%) patients with NBD have been followed-up for a median of 3 years (range 1–19 years). Forty-one of them recovered well without significant residual disability, 5 patients made no improvement and are left with severe neurological impairments and 3 died. Male gender and CNS parenchymal lesions occurrence were significantly associated with a poorer prognosis. ConclusionClinical and epidemiological features of NBD are various. In our Tunisian cohort of NBD patients the main characteristic features were male predominance, a relatively high prevalence of CVT, a low prevalence of intra-cranial hypertension and a significant lower frequency of HLA-B51 haplotype.

Osseous Manifestations of Adult Gaucher Disease in the Era of Enzyme Replacement Therapy

Enzyme replacement therapy (ERT) for Gaucher disease with mannose-terminated glucocerebrosidase has proved its therapeutic position with salutary effects on hematologic abnormalities, visceral infiltration, and quality of life. The frequency of new bone complications is reduced but not eliminated. Established osteonecrosis is beyond salvage. A systematic description of the burden of bone manifestations, persisting despite ERT, should inform future remedial strategies. Thus, we conducted this study to quantify the burden of residual skeletal disease and to explore putative relationships between clinical, radiologic, and biochemical factors and bone sequelae associated with disability.Consecutive adult patients attending 3 referral centers in the United Kingdom were invited to participate. A representative group of 100 patients agreed to a structured interview, clinical examination, radiologic review, and completion of questionnaires. Osteonecrosis was evident in 43%, Erlenmeyer flask deformity in 59%, fragility fracture in 28%, osteomyelitis in 6%, and lytic lesions in 4%. Mobility was impaired in 32% of patients, while 15% experienced significant pain. The EuroQol 5D (EQ5D) quality of life summary measure was reduced and was associated with osteonecrosis and fragility fracture. Eight patients experienced new osteonecrosis after the start of ERT, though the presentation and evolution were often atypical. Nine patients had been treated from childhood and had an excellent outcome. Osteonecrosis was associated with age of presentation and with splenectomy-indeed, we observed a strong temporal association between splenectomy and incidence of osteonecrosis.The biomarkers PARC/CCL18 and chitotriosidase were associated with prevalent osteonecrosis, and, in particular, with osteonecrosis occurring despite treatment. This study documents significant residual skeletal pathology and disability in patients in the mature phase of their treatment in a developed region. The temporal association between splenectomy and osteonecrosis implies causation. The relationship between clinical and biochemical markers and existing bone complications sets the scene for future prospective studies that will focus on management strategies informed by credible assessment of risk.

Paroxysmal hypothermia as a clinical feature of multiple sclerosis

Hypothermia is rare in multiple sclerosis (MS). Only 14 patients with MS with hypothermia have been reported1,2 (table e-1 on the Neurology® Web site at www.neurology.org). Here we present a patient with MS with recurrent episodes of profound hypothermia, likely due to demyelination. ### Case report. In March 2000, a 41-year-old man with a 7-year MS history was admitted to the intensive care unit for severe hypothermia. The patient initially developed recurrent episodes of paraparesis and ataxia in 1993. In 1995, the brain MRI showed multiple white matter lesions and the patient began treatment with interferon beta-1b. In 1996, he developed rapidly worsening paraparesis, ataxia, and internuclear ophthalmoplegia. The repeat brain MRI scan showed new T2-weighted hyperintensities (not shown). The patient received monthly infusions of mitoxantrone (20 mg) for 6 months and the disease subsequently stabilized with significant residual disability (Expanded Disability Status Score of 7). In February 2000, the patient developed rapidly progressive slurred speech, hypothermia, paranoid delusions, and vivid auditory, visual, and tactile sensations suggestive of hypnagogia, over a period of 3 weeks. Upon admission, the body temperature was 30.0°C, heart rate was 100 beats/minute, and blood pressure was 120/70 mm Hg. Paraplegia, bilateral upper extremity weakness, bilateral facial droop, and miosis were noted. After 6 hours of external rewarming, the temperature rose to 33°C. The patient subsequently became …

Pelvic Trauma With Displaced Sacral Fractures

A prospective single-cohort study of 31 patients surgically treated for pelvic injuries with displaced sacral fractures. To describe the medium term functional outcome in unstable sacral fractures. Displaced sacral fractures pose a special challenge in orthopedic surgery due to the high rate of associated injuries. Little information is available on the medium-term functional outcome of patients with injuries which include unstable sacral fractures. We examined 31 patients with displaced sacral fractures having 10 mm or more displacement, 1 year (mean, 1.4 years; range, 1.0-2.5 years) after injury. Data from a previous study were supplemented with functional outcome measures (work status, independence in ADL, and SF-36). An association between outcome and tested variables was sought. Fifteen months after injury, 65% of the patients had regained their independence in functions pertaining to daily activities; 33% had returned to work. All dimensions of perceived health were affected. Polytrauma and impairments relative to voiding and sexual function had a detrimental effect on outcome. Fracture characteristics were not predictive of poor outcome. Although the majority of patients achieved independent living, medium-term follow-up indicated significant residual disability. The complex nature of these fractures and the associated injuries should be considered in the rehabilitation of these patients.