Complete loss of vision caused by a giant mucocele of the frontal sinus.

The authors report the case of a 75-year-old man presenting with an exceptionally large giant posttraumatic mucocele of the frontal sinus years after a gunshot blast to the head. The lesion had grown so extensively that the right eye had shrunk and calcified, resulting in total monocular blindness, a complication that has been reported only once. To the best of our knowledge, it is the first time that a giant mucocele of such a large size is reported. We describe how the patient underwent surgical removal of this massive lesion, cranial base reconstruction, and a cosmetic oculoplastic procedure. The etiology, clinical presentation, and possible complications are reviewed, as well as the importance of a regular clinical follow-up and early surgical cure. Although the diagnosis and management of mucoceles are nowadays considered quite standard, the exceptional size of the lesion illustrated here emphasizes the destructive potential of such seemingly indolent lesions. Despite the benign histology of mucoceles, one should never underestimate their morbid potential or be lulled in delaying surgical cure. Large mucoceles should be removed as quickly as possible to prevent such unacceptable complications as permanent visual loss.

Postmortem imaging of sudden cardiac death

Postmortem imaging is increasingly used in forensic practice in cases of natural deaths related to cardiovascular diseases, which represent the most common causes of death in developed countries. While radiological examination is generally considered to be a good complement for conventional autopsy, it was thought to have limited application in cardiovascular pathology. At present, multidetector computed tomography (MDCT), CT angiography, and cardiac magnetic resonance imaging (MRI) are used in postmortem radiological investigation of cardiovascular pathologies. This review presents the actual state of postmortem imaging for cardiovascular pathologies in cases of sudden cardiac death (SCD), taking into consideration both the advantages and limitations. The radiological evaluation of ischemic heart disease (IHD), the most frequent cause of SCD in the general population of industrialized countries, includes the examination of the coronary arteries and myocardium. Postmortem CT angiography (PMCTA) is very useful for the detection of stenoses and occlusions of coronary arteries but less so for the identification of ischemic myocardium. MRI is the method of choice for the radiological investigation of the myocardium in clinical practice, but its accessibility and application are still limited in postmortem practice. There are very few reports implicating postmortem radiology in the investigation of other causes of SCD, such as cardiomyopathies, coronary artery abnormalities, and valvular pathologies. Cardiomyopathies representing the most frequent cause of SCD in young athletes cannot be diagnosed by echocardiography, the most widely available technique in clinical practice for the functional evaluation of the heart and the detection of cardiomyopathies. PMCTA and MRI have the potential to detect advanced stages of diseases when morphological substrate is present, but these methods have yet to be sufficiently validated for postmortem cases. Genetically determined channelopathies cannot be detected radiologically. This review underlines the need to establish the role of postmortem radiology in the diagnosis of SCD.

L'apathie, un symptôme transnosographique: diagnostic différentiel et prise en charge [Apathy, a transnosographic symptom: diagnosis and treatment]

Apathy defined as a loss of motivation and interest for novelty is a frequent symptom encountered in a number of psychiatric and somatic disorders. The purpose of this article is to provide an overview of the many different medical contexts where apathy may occur and help clinicians to differentiate it from a depressive syndrome. The treatment of apathy requires a diagnostic clarification in order to treat the underlying condition. Then, pharmacological or non-pharmacological interventions may help to specifically improve apathy.

Clinical role of coronary magnetic resonance angiography in the diagnosis of anomalous coronary arteries.

Though rare, anomalous coronary artery disease is a well-known cause of myocardial ischemia and sudden death among children and young adults. The projectional nature of conventional x-ray angiography often leads to difficulty in the definition of anomalous vessels. Studies have now documented the high accuracy of coronary magnetic resonance angiography (MRA) for the noninvasive detection and definition of anomalous coronary arteries among patients with suspected anomalous coronary arteries of congenital conditions associated with anomalous coronary arteries. With increasing clinical experience, coronary MRA will likely emerge as the gold standard for the diagnosis of this condition.

A Heterozygous Deletion Mutation in the Cardiac Sodium Channel Gene SCN5A with Loss- and Gain-of-Function Characteristics Manifests as Isolated Conduction Disease, without Signs of Brugada or Long QT Syndrome.

BACKGROUND: The SCN5A gene encodes for the α-subunit of the cardiac sodium channel NaV1.5, which is responsible for the rapid upstroke of the cardiac action potential. Mutations in this gene may lead to multiple life-threatening disorders of cardiac rhythm or are linked to structural cardiac defects. Here, we characterized a large family with a mutation in SCN5A presenting with an atrioventricular conduction disease and absence of Brugada syndrome. METHOD AND RESULTS: In a large family with a high incidence of sudden cardiac deaths, a heterozygous SCN5A mutation (p.1493delK) with an autosomal dominant inheritance has been identified. Mutation carriers were devoid of any cardiac structural changes. Typical ECG findings were an increased P-wave duration, an AV-block I° and a prolonged QRS duration with an intraventricular conduction delay and no signs for Brugada syndrome. HEK293 cells transfected with 1493delK showed strongly (5-fold) reduced Na(+) currents with altered inactivation kinetics compared to wild-type channels. Immunocytochemical staining demonstrated strongly decreased expression of SCN5A 1493delK in the sarcolemma consistent with an intracellular trafficking defect and thereby a loss-of-function. In addition, SCN5A 1493delK channels that reached cell membrane showed gain-of-function aspects (slowing of the fast inactivation, reduction in the relative fraction of channels that fast inactivate, hastening of the recovery from inactivation). CONCLUSION: In a large family, congregation of a heterozygous SCN5A gene mutation (p.1493delK) predisposes for conduction slowing without evidence for Brugada syndrome due to a predominantly trafficking defect that reduces Na(+) current and depolarization force.

Recovery of postoperative visual loss following treatment of severe anaemia.

A 29-year-old pregnant woman noted acute visual loss following emergent Caesarean section complicated by excessive uterine bleeding. Postoperative visual acuity was count fingers in both eyes. Funduscopic changes were consistent with a diagnosis of anaemia-associated ischaemic optic neuropathy and retinopathy. One month later, because of persistent anaemia and poor visual recovery, blood transfusion was given. Following transfusion, the patient's vision improved over the next 6 months. In an otherwise healthy patient, visual loss associated with postoperative blood loss may still be partially reversible with correction of the anaemia, even after a delayed period of time.

Effect of Vagus Nerve Stimulation in an Adult Patient with Dravet Syndrome: Contribution to Sudden Unexpected Death in Epilepsy Risk Reduction?.

We report on a patient who developed, from 5 months of age, multiple seizure types, including myoclonic, associated with severe psychomotor delay, leading to the diagnosis of Dravet syndrome. Over the years, he developed refractory epilepsy and was implanted with a vagus nerve stimulator at the age of 19. After 3 months, he experienced a progressive improvement of partial and generalized seizures, with a >90% reduction, and better alertness. This meaningful clinical improvement is discussed in the light of the sudden unexpected death in epilepsy risk, which is high in this setting, and seems remarkably diminished in our patient in view of the reduction of generalized convulsions.

Spinal epidural hematoma: not always an obvious diagnosis.

Spinal epidural hematoma (SEH) is a rare neurosurgical emergency. SEH is characterized by an archetypal clinical presentation including abrupt spinal pain followed more or less rapidly by various degrees of neurological deficit. The diagnosis of SEH, often based on a clinical presumption, represents a clinical challenge. Several reports have outlined missed or delayed diagnosis due to unusual and confusing onsets or unawareness of this diagnosis by physicians. Therefore, physicians should keep in mind the possibility of SEH in their differential diagnosis when confronted with patients complaining of sudden onset of acute spinal pain with or without neurological sign, because the impact of a delayed diagnosis can be disabling catastrophic neurological sequelae. We suggest that SEH is a dynamic disease, which occurs in patients with an abnormal vasculature structural degenerative change. The bleeding is probably of multifactorial origin incriminating veins as well as arteries. Therefore, we proposed a classification of SEH, according to the most probable etiology whatever the associated factors, in six groups: spontaneous, secondary, iatrogenic, traumatic, recurrent, and idiopathic SEH.

Diagnostic pitfalls: posterior ischemic optic neuropathy mimicking optic neuritis.

In young people, the most frequent cause of isolated monocular visual loss due to an optic neuropathy is optic neuritis. We present the case of a 27 year old woman who presented monocular visual loss, excruciating orbital pain and unusual temporal headache. The initial diagnosis of optic neuritis revealed later to be a posterior ischemic optic neuropathy (PION). In this case, PION was the first unique presentation of a non-traumatic carotid dissection, and it was followed 24h later by an ischemic stroke. Sudden monocular visual loss associated with a new-onset headache are clinical symptoms that should immediately prompt to a carotid dissection.

Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria.

Inherited metabolic disorders are the cause of a small but significant number of sudden unexpected deaths in infancy. We report a girl who suddenly died at 11 months of age, during an intercurrent illness. Autopsy showed spongiform lesions in the subcortical white matter, in the basal ganglia, and in the dentate nuclei. Investigations in an older sister with developmental delay, ataxia, and tremor revealed L-2-hydroxyglutaric aciduria and subcortical white matter changes with hyperintensity of the basal ganglia and dentate nuclei at brain magnetic resonance imaging. Both children were homozygous for a splice site mutation in the L2HGDH gene. Sudden death has not been reported in association with L-2-hydroxyglutaric aciduria so far, but since this inborn error of metabolism is potentially treatable, early diagnosis may be important.

Suspicion d'hémorragie sous-arachnoïdienne: place d'un score prédictif dans la stratégie diagnostique actuelle [Usefulness of a predictive score in subarachnoid hemorrhage diagnosis].

Usefulness of a predictive score in subarachnoid hemorrhage diagnosis Nearly half of the patients with non-traumatic subarachnoid hemorrhage (SAH) present with no neurological signs, inducing clinical underestimation of the gravity of their affection. As the outcome of aneurismal SAH is highly dependant on the initial neurological status and the recurrence of untreated hemorrhagic events, these neurologically intact patients stand to suffer the most from delayed diagnosis. Although there is currently no validated predictive score that reliably identifies SAH-induced headache, a combination of clinical criteria derived from a cohort of sudden-onset headache patients should allow risk stratification and identification of those patients requiring further investigation.

Early diagnosis of osteoporosis by means of orthopantomograms and oral x-rays: a systematic review

Osteoporosis is a systemic bone disease that is characterized by a generalized reduction of the bone mass. It is the main cause of fractures in elderly women. Bone densitometry is used in the lumbar spine and hip in order to detect osteoporosis in its early stages. Different studies have observed a correlation between the bone mineral density of the jaw (BMD) and that of the lumbar spine and/or hip. On the other hand, there are studies that evaluate the findings in the orthopantomograms and perapical X-rays, correlating them with the early diagnosis of osteoporosis and highlighting the role of the dentist in the early diagnosis of this disease. Materials and methods: A search was carried out in the Medline-Pubmed database in order to identify those articles that deal with the association between the X-ray findings observed in the orthopantomograms and the diagnosis of the osteoporosis, as well as those that deal with the bone mineral density of the jaw. Results: There were 406 articles, and with the limits established, this number was reduced to 21. Almost all of the articles indicate that when examining oral X-rays, it is possible to detect signs indicative of osteoporosis. Discussion: The radiomorphometric indices use measurements in orthopantomograms and evaluate possible loss of bone mineral density. They can be analyzed alone or along with the visual indices. In the periapical X-rays, the photodensimetric analyses and the trabecular pattern appear to be the most useful. There are seven studies that analyze the densitometry of the jaw, but only three do so independently of the photodensitometric analysis. Conclusions: The combination of mandibular indices, along with surveys on the risk of fracture, can be useful as indicators of early diagnosis of osteoporosis. Visual and morphometric indices appear to be especially important in the orthopantomograms. Photodensitometry indices and the trabecular pattern are used in periapical X-rays. Studies on mandibular dual-energy X-ray absorptiometry are inconclusive

Diagnosis of Alzheimer’s Disease from EEG by Means of Synchrony Measures in Optimized Frequency Bands

Several clinical studies have reported that EEG synchrony is affected by Alzheimer’s disease (AD). In this paper a frequency band analysis of AD EEG signals is presented, with the aim of improving the diagnosis of AD using EEG signals. In this paper, multiple synchrony measures are assessed through statistical tests (Mann–Whitney U test), including correlation, phase synchrony and Granger causality measures. Moreover, linear discriminant analysis (LDA) is conducted with those synchrony measures as features. For the data set at hand, the frequency range (5-6Hz) yields the best accuracy for diagnosing AD, which lies within the classical theta band (4-8Hz). The corresponding classification error is 4.88% for directed transfer function (DTF) Granger causality measure. Interestingly, results show that EEG of AD patients is more synchronous than in healthy subjects within the optimized range 5-6Hz, which is in sharp contrast with the loss of synchrony in AD EEG reported in many earlier studies. This new finding may provide new insights about the neurophysiology of AD. Additional testing on larger AD datasets is required to verify the effectiveness of the proposed approach.

Sudden cardiac death among general population and sport related population in forensic experience.

PURPOSE: The goal of the study was to assess the causes and analyze the cases of sudden cardiac death (SCD) victims referred to the department of forensic medicine in Lausanne, with a particular focus on sports-related fatalities including also leisure sporting activities. To date, no such published assessment has been done nor for Switzerland nor for the central Europe. METHODS: This is a retrospective study based on autopsy records of SCD victims, from 10 to 50 years of age, performed at the University Centre of Legal Medicine in Lausanne from 1995 to 2010. The study population was divided into two groups: sport-related (SR) and not sport-related (NSR) SCDs. RESULTS: During the study period, 188 cases of SCD were recorded: 166 (88%) were NSR and 22 (12%) SR. The mean age of the 188 victims was 37.3 ± 10.1 years, with the majority of the cases being male (79%). A cause of death was established in 84%, and the pathology responsible for death varied according to the age of the victims. In the NSR group, the mean age was 38.2 ± 9.2 years and there was 82% of male. Coronary artery disease (CAD) was the main diagnosis in the victims aged 30-50 years. The majority of morphologically normal hearts were observed in the 15-29 year age range. There was no case in the 10-14 year age range. In the SR group, 91% of victims died during leisure sporting activities. In this group the mean age was 30.5 ± 13.5 years, with the majority being male (82%). The main cause of death was CAD, with 6 cases (27%) and a mean age of 40.8 ± 5.5 years. The youngest victim with CAD was 33 years old. A morphologically normal heart was observed in 5 cases (23%), with a mean age of 24.4 ± 14.9 years. The most frequently implicated sporting activities were hiking (26%) and swimming (17%). CONCLUSION: In this study, CAD was the most common cause of death in both groups. Although this pathology most often affects adults over 35 years of age, there were also some victims under 35 years of age in both groups. SCDs during sport are mostly related to leisure sporting activities, for which preventive measures are not yet usually established. This study highlights also the need to inform both athletes and non athletes of the cardiovascular risks during sport activities and the role of a forensic autopsy and registries involving forensic pathologists for SR SCD.