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Necrotizing fasciitis (NF) is a life-threatening infection of soft tissues spreading along the fasciae to the surrounding musculature, subcutaneous fat and overlying skin areas that can rapidly lead to septic shock and death. Due to the pandemic increase of medical malpractice lawsuits, above all in Western countries, the forensic pathologist is frequently asked to investigate post-mortem cases of NF in order to determine the cause of death and to identify any related negligence and/or medical error. Herein, we review the medical literature dealing with cases of NF in a post-mortem setting, present a case series of seven NF fatalities and discuss the main ante-mortem and post-mortem diagnostic challenges of both clinical and forensic interests. In particular, we address the following issues: (1) origin of soft tissue infections, (2) micro-organisms involved, (3) time of progression of the infection to NF, (4) clinical and histological staging of NF and (5) pros and cons of clinical and laboratory scores, specific forensic issues related to the reconstruction of the ideal medical conduct and the evaluation of the causal value/link of any eventual medical error.

Hydranencephaly is a severe congenital condition where most of the cerebral hemispheres are replaced by a membranous sac. Despite the growing amount of case reports, most pathogenic, phenotypic, and prognostic aspects of hydranencephaly remain controversial. By matching the recent literature data with the findings of our own series (four cases: two fetuses at the twelfth gestational week, a 32-year-old man, and a 14-year-old female), we attempted to date back the insult leading to hydranencephaly to understand its pathogenesis and to explain the basis of its protean phenotype. The variable detection of cerebral remnants seems to mirror the developmental pathway of cerebral arteries. Moreover, fetal and postnatal neuroimaging data and histopathologic findings point toward an early bilateral internal carotid artery occlusion, mostly occurring between the eighth and twelfth gestational weeks, as the main pathogenic mechanism of hydranencephaly.

Objective To report an ataxic variant of Alzheimer disease expressing a novel molecular phenotype. Design Description of a novel phenotype associated with a presenilin 1 mutation. Setting The subject was an outpatient who was diagnosed at the local referral center. Patient A 28-year-old man presented with psychiatric symptoms and cerebellar signs, followed by cognitive dysfunction. Severe β-amyloid (Aβ) deposition was accompanied by neurofibrillary tangles and cell loss in the cerebral cortex and by Purkinje cell dendrite loss in the cerebellum. A presenilin 1 gene (PSEN1 ) S170F mutation was detected. Main Outcome Measures We analyzed the processing of Aβ precursor protein in vitro as well as the Aβ species in brain tissue. Results The PSEN1 S170F mutation induced a 3-fold increase of both secreted Aβ 42 and Aβ 40 species and a 60% increase of secreted Aβ precursor protein in transfected cells. Soluble and insoluble fractions isolated from brain tissue showed a prevalence of N–terminally truncated Aβ species ending at both residues 40 and 42. Conclusion These findings define a new Alzheimer disease molecular phenotype and support the concept that the phenotypic variability associated with PSEN1 mutations may be dictated by the Aβ aggregates' composition.

One of the neuropathological characteristics of Alzheimer's disease is the presence of a large number of reactive astrocytes, often, but not always, associated with senile plaques. The factors responsible for such an activation are as yet totally unknown. Other characteristic features of this disease such as betaA4 amyloid accumulation, senile plaques and neurofibrillary tangles represent well known pathological phenomena. Some studies suggest that betaA4 plays a major role in the reactive astrocytosis characteristic of Alzheimer's disease. In the normal human brain, metallothionein isoforms I and II are expressed in astrocytes but not in neurons. In the present study, we used anti-metallothionein antibodies to detect cells expressing metallothioneins isoforms I and II in normal and Alzheimer's disease (AD) brain sections. Results showed that expression of these proteins in the cortex, cerebral white matter and cerebellum is a relevant anatomopathological characteristic of Alzheimer's disease. Analysis of Alzheimer's disease brain sections revealed high expression of metallothioneins I/II in astrocytes and microcapillaries, and in the granular but not the molecular layer of the cerebellum. Furthermore, metallothionein expression can be used as a marker to identify subtypes of astrocytes.

✓ A tuberculoma, encasing the anterior optic pathways in a neoplastiform growth, was found in a 25-year-old man complaining of severe visual loss, diabetes insipidus, and sexual impotence following tuberculous meningitis. Following biopsy and anti-tuberculosis treatment, a satisfactory restoration of sight in one eye allowed the patient to resume an almost normal life.

The case is presented of a child with early manifestations of Hand-Schüller-Christian disease limited to exophthalmos, and rapid final progression towards a clinical picture dominated by intracranial hypertension and cerebeliar involvement, caused by massive histiocytic infiltration of the cerebellum, combined with discrete subdural deposits of xanthomatous tissue and minor deposits in other parts of the central nervous system and other organs.

Seven surgical patients have been selected from a series of 40 cases (24 pediatric) of anterior optic glioma as examples of the advantage of surgical (excision of nerve tumors; exploration and biopsy as a minimum program for chiasmal lesions) over conservative treatment. The results obtained in these seven cases reflect those seen in the total series and those to be gleaned from most of the literature

A series of 84 patients with exophthalmos caused by vascular lesions, or neoplastic lesions with a predominant vascular component, is discussed. All patients, observed in the period before CT scan, were investigated by traditional neuroradio-logical techniques, notably angiographic ones (carotid arteriogram and orbital phlebogram). In several cases, cerebral vascular lesions such as saccular aneurysms and arterio-venous malformations, cerebral angiomas and uncommon arterio-venous shunts, were the cause of the exophthalmos. The case is argued for the continuing importance of both types of angiographic examination, especially cerebral angiography, in the investigation of exophthalmos after ‘non-invasive’ techniques (CT scan, ultrasonography) have allowed a preliminary screening and established a firmer indication for ‘invasive’ examinations.

A clinicopathologic investigation was carried out in a patient with acromegaly from acidophylic adenoma of the hypophysis. Pronounced cardiomegaly and disturbances in impulse formation and conduction led to sudden death. The problem of acromegalic cardiomyopathy has been reviewed. Particular attention has been focused on the histopathologic findings in the working and specific myocardium, and in the intrinsic nervous supply to the sinoatrial node, which were correlated with the electrocardiographic features of atrioventricular conduction delay and sick sinus syndrome.

Sixteen patients (one with tuberculoma of the anterior optic pathways, the other 15 with opto-chiasmatic arachnoiditis) are presented. They are divided into three categories (definite, likely, possible) from the point of view of the pathogenetic link of their optic pathology with a primary tuberculous infection. Neurosurgical treatment had a positive effect upon the visual symptoms in five patients (31.25%), no effect in three cases (18.75%); in the other eight patients (50%) it could not prevent progression of visual impairment.

14 young patients, operated upon for opto-chiasmatic arachnoiditis by craniotomy are presented. 2 main etiopathogenetic forms (and their respective clinical equivalents) of the disease could be recognized. Only 1 postoperative death occurred, in a patient with a dominant clinical picture of intracranial hypertension. Results of surgery (craniotomy and lysis of adhesions) could be distinguished as positive (functional improvement) in 5 cases, indifferent or negative in the others, with a follow-up duration of up to 23 years. The role of the diagnostic value of the pneumoencephalogram as a basis for surgical indication is discussed: it is felt that this examination, when reported as negative, is not of sufficient value to rule out the diagnosis, which must essentially rely upon clinical data.

The clinicopathologic picture of a case of so-called 'sarcoglioma' is reported. This tumor is characterized by a core of sarcomatous tissue, surrounded by an area of gradual transition from reactive to neoplastic glial cells; it occurs in children or in young adults and is very rare in comparison with the secondary sarcoma deriving from the vascular component of a glioblastoma (so-called 'gliosarcoma'). The clinical and laboratory features and the pathology of this case are discussed in detail.