1/16. McArdle's disease in childhood: report of a new case.McArdle's disease (glycogenosis type V) is an inherited glycogen storage disease characterized clinically by myalgia, cramps and sometimes myoglobinuria, triggered by exercise. The onset of exercise intolerance is usually in late childhood or adolescence and diagnosis is exceptionally established during infancy. We report the case of a 6-year-old girl who had been complaining of aching muscles for a long time, and who presented after a near-drowning incident, with extensive muscle necrosis, probably secondary to myophosphorylase deficiency-induced cramps. These unusual manifestations led to the diagnosis of this rare disorder. We compare the clinical findings of this case to nine previous reports. This highlights the heterogeneous spectrum of this disease in childhood and supports the distinction of three clinical pictures in childhood: a neonatal form rapidly fatal, a milder form with congenital myopathic symptoms and a benign classical form with myalgia, cramps and pigmenturia.- - - - - - - - - - ranking = 1keywords = long (Clic here for more details about this article) |
2/16. Heterotopic ossification in childhood and adolescence.Heterotopic ossification, or myositis ossificans, denotes true bone in an abnormal place. The pathogenic mechanism is still unclear. A total of 643 patients (mean age, 9.1 years) admitted for neuropediatric rehabilitation were analyzed retrospectively with respect to the existence of neurogenic heterotopic ossification. The purpose of this study was to obtain information about incidence, etiology, clinical aspect, and consequences for diagnosis and therapy of this condition in childhood and adolescence. Heterotopic ossification was diagnosed in 32 patients (mean age, 14.8 years) with average time of onset of 4 months after traumatic brain injury, near drowning, strangulation, cerebral hemorrhage, hydrocephalus, or spinal cord injury. The sex ratio was not significant. In contrast to what has been found in adult studies, serum alkaline phosphatase was not elevated during heterotopic ossification formation. A persistent vegetative state for longer than 30 days proved to be a significant risk factor for heterotopic ossification. The incidence of neurogenic heterotopic ossification in children seems to be lower than in adults. A genetic predisposition to heterotopic ossification is suspected but not proven. As a prophylactic regimen against heterotopic ossification we use salicylates for those patients in a coma or persistent vegetative state with warm and painful swelling of a joint and consider continuous intrathecal baclofen infusion and botulinum toxin injection for those patients with severe spasticity. We prefer to wait at least 1 year after trauma before excision of heterotopic ossification.- - - - - - - - - - ranking = 1keywords = long (Clic here for more details about this article) |
3/16. Prognostic value of evoked potentials and sleep recordings in the prolonged comatose state of children. Preliminary data.OBJECTIVES: sleep recordings and evoked potentials (EPs) were used in five comatose children to evaluate their predictive value for outcome following a severe comatose state. methods AND SUBJECTS: The protocol included EEG, Brainstem Evoked Responses (BERs), Somatosensory evoked potentials (SEPs) and polysomnography. From 10 to 15 days post-coma (D10 to D15), EEG and clinical examinations were carried out every second day, then one day in four from 15 to 30 days post-coma (D15 to D30), and one day in seven from D30 to six months (M6). evoked potentials and polysomnography were recorded on D10-D15 or D30 in the second month (M2) and in M6. Of the five children, three were in anoxic coma and two in traumatic coma. All had extensive lesions and a glasgow coma scale (GCS) score of less than five. The results of the EEG, polysomnographic and EP recordings were compared to the clinical outcome. RESULTS AND CONCLUSION: In the three anoxic comas we observed BER abnormalities and the absence of SEP N20 associated with wide cortical lesions with brainstem extension. sleep recordings showed major alterations of the wake-sleep cycle without any improvement in M6. Abnormalities included loss of the normal REM-sleep pattern associated with alteration of NREM sleep and periods of increase in motor activity without EEG arousal. This sleep pattern appeared to be associated with involvement of the brainstem. In the two traumatic comas, alterations of the early cortical SEP responses were less severe and the BERs were normal. Some sleep spindles were observed as well as the persistence of sleep cycles in the first weeks post-coma. The combined use of EEG, EPs and polysomnography improved the outcome prediction in comparison with the use of just one modality. EPs and sleep recordings were far superior to clinical evaluation and to GCS in the appreciation of the functional status of comatose children. The reappearance of sleep patterns is considered to be of favorable prognosis for outcome of the coma state, as is the presence of sleep spindles in post-trauma coma. This study showed that EPs and sleep recordings help to further distinguish between patients with good or bad outcomes.- - - - - - - - - - ranking = 4keywords = long (Clic here for more details about this article) |
4/16. cardiopulmonary resuscitation after near drowning and hypothermia: restoration of spontaneous circulation after vasopressin.Recent animal data have challenged the common clinical practice to avoid vasopressor drugs during hypothermic cardiopulmonary resuscitation (CPR) when core temperature is below 30 degrees C. In this report, we describe the case of a 19-year-old-female patient with prolonged, hypothermic, out-of-hospital cardiopulmonary arrest after near drowning (core temperature, 27 degrees C) in whom cardiocirculatory arrest persisted despite 2 mg of intravenous epinephrine; but, immediate return of spontaneous circulation occurred after a single dose (40 IU) of intravenous vasopressin. The patient was subsequently admitted to a hospital with stable haemodynamics, and was successfully rewarmed with convective rewarming, but died of multiorgan failure 15 h later. To the best of our knowledge, this is the first report about the use of vasopressin during hypothermic CPR in humans. This case report adds to the growing evidence that vasopressors may be useful to restore spontaneous circulation in hypothermic cardiac arrest patients prior to rewarming, thus avoiding prolonged mechanical CPR efforts, or usage of extracorporeal circulation. It may also support previous experience that the combination of both epinephrine and vasopressin may be necessary to achieve the vasopressor response needed for restoration of spontaneous circulation, especially after asphyxial cardiac arrest or during prolonged CPR efforts.- - - - - - - - - - ranking = 3keywords = long (Clic here for more details about this article) |
5/16. The romano-ward syndrome: a case presenting as near drowning with a clinical review.patients with the romano-ward syndrome, a form of congenital long Q-T syndrome (LQTS), present with syncopal episodes and are at risk for sudden death. patients with LQTS may be misdiagnosed if the physician is unaware of this entity. The risk of sudden death makes recognition important so that appropriate therapy can be initiated. A case is discussed in which the patient presented following a near-drowning episode. family history revealed a familial "seizure disorder." After analysis of the patient's and father's ECGs, the diagnosis of romano-ward syndrome was made. A review of the literature was done, concentrating on presentation, pathophysiology, electrocardiographic findings, etiology, diagnosis, prognosis, and treatment of congenital LQTS. This paper is presented to emphasize the importance of physician awareness of LQTS because of the risk of sudden death. Proper diagnosis can lead to treatment that is effective in reducing mortality by more than 90%.- - - - - - - - - - ranking = 1keywords = long (Clic here for more details about this article) |
6/16. Paediatric near-drowning: mortality and outcome in a temperate climate.The decision whether to continue to resuscitate the paediatric victim of near-drowning is influenced by potential poor neurological outcome. A low core body temperature at presentation is frequently cited as a reason to continue resuscitation. We report the case of an 11 month old infant admitted to the intensive care unit following near-drowning and a prolonged resuscitation. The infant's core body temperature was 29 degrees C. cardiac output was restored, but the child remains in a persistent vegetative state. We present the results of a ten year review of near-drowning in a tertiary referral institution, to evaluate the mortality and outcome in a temperate climate. Thirteen patients were identified in the review. The mortality was 23%. The incidence of a persistent vegetative state was 15%. Asystole, immersion time greater than 15 minutes, resuscitation time longer than 30 minutes, the administration of epinephrine, and a low core body temperature were associated with a poor outcome.- - - - - - - - - - ranking = 2keywords = long (Clic here for more details about this article) |
7/16. Prenatal molecular genetic diagnosis of congenital long qt syndrome by strategic genotyping.We demonstrate how genetic testing enabled a molecular prenatal diagnosis of congenital long qt syndrome in a 20-week fetus presenting with fetal bradycardia in the setting of maternal beta-blocker therapy. Before prenatal testing, strategic genotyping, based on a family history of a near drowning, was performed on a 3-generation family with clinically diagnosed long qt syndrome in which the affected mother was pregnant.- - - - - - - - - - ranking = 6keywords = long (Clic here for more details about this article) |
8/16. survival after prolonged submersion in freshwater in florida.A 2-year-old boy was submerged for at least 20 min in a freshwater creek in Union County, FL. cardiopulmonary resuscitation (CPR) was administered for approximately 1 h at the scene and during transport to the hospital. On arrival, his glasgow coma scale score was 3 and rectal temperature was < or = 26.7 degrees C. He demonstrated respiratory failure, intense vasoconstriction, hemoglobinuria, anemia, hypercoagulability, thrombocytosis, leukopenia, and persistent coma. With intensive care, he began emerging from the coma after 72 h and progressively improved. Testing at the Developmental Evaluation Center and clinical observations showed him to be completely normal by 6 months after drowning. Thus, severe, rapid hypothermia can occur during drowning in cold water in any geographic location and at temperatures above those necessary for ice formation. hypothermia provides cerebral protection from hypoxia, permitting total recovery with appropriate CPR and intensive care.- - - - - - - - - - ranking = 4keywords = long (Clic here for more details about this article) |
9/16. Pulmonary pseudallescheria boydii infection with cutaneous zygomycosis after near drowning.pseudallescheria boydii is a ubiquitously occurring fungus. While rarely causing opportunistic infection in humans, it is the most common cause of fungal pneumonia in cases of near drowning, and is associated with high mortality. P. boydii typically causes cutaneous mycetomas but may invade the lungs or brain. P. boydii infections are difficult to treat due to amphotericin b resistance and frequent need for surgical resection. Zygomycetous infections, often referred to as "mucormycoses," usually occur in immunocompromised hosts, trauma or burn victims. Like P. boydii, these organisms are found on decaying vegetation and in soil. Zygomycetous infections generally require debridement and prolonged amphotericin b. We report a case of P. boydii pneumonia with a simultaneous brain lesion and cutaneous mucormycosis in a near drowning patient. The pneumonia responded to treatment with voriconazole and the brain lesion resolved without surgery. The cutaneous mucormycosis responded to surgery and amphotericin b. This is the first documented case of simultaneous invasive P. boydii and cutaneous mucormycosis successfully treated with dual systemic antifungal therapy and resection.- - - - - - - - - - ranking = 1keywords = long (Clic here for more details about this article) |
10/16. Mild hypothermia after near drowning in twin toddlers.INTRODUCTION: We report a case of twin toddlers who both suffered near drowning but with different post-trauma treatment and course, and different neurological outcomes. methods AND RESULTS: Two twin toddlers (a boy and girl, aged 2 years and 3 months) suffered hypothermic near drowning with protracted cardiac arrest and aspiration. The girl was treated with mild hypothermia for 72 hours and developed acute respiratory dysfunction syndrome and sepsis. She recovered without neurological deficit. The boy's treatment was conducted under normothermia without further complications. He developed an apallic syndrome. CONCLUSION: Although the twin toddlers experienced the same near drowning accident together, the outcomes with respect to neurological status and postinjury complications were completely different. One of the factors that possibly influenced the different postinjury course might have been prolonged mild hypothermia.- - - - - - - - - - ranking = 1keywords = long (Clic here for more details about this article) |
| | Next -> |