A sudden death, an aortic rupture, and an unexpected cause: a report about suspected child abuse.

All unexpected deaths of children require an autopsy to determine the cause of death. In cases of aortic rupture, the immediate cause of death is easily identified at autopsy. Although the majority of aortic ruptures are caused by high-energy trauma, other causes should not be missed.We present and discuss the case of a 29-month-old child who died suddenly at home. Her recent medical history and the ecchymotic lesions observed on external examination of the body appeared potentially suspicious of physical abuse. The autopsy concluded that death was due to complete rupture of the abdominal aorta with associated vertebral disjunction. At first glance, the overall forensic picture could suggest a traumatic death. However, careful inspection of the retroperitoneum revealed a discrete atypical mass of infiltrative tissue within the hematoma. Histopathological examinations confirmed tumor proliferation of the soft tissues, triggering vascular and spinal injuries. Other paraneoplastic elements or metastases were ultimately revealed (orbital and subcutaneous). Overall, this was a rare and fatal case of abdominal aortic rupture induced by tumors. Due to the mechanisms and the forces needed to cause vertebral dislocations and aortic rupture, the combination of the two is highly suggestive of child abuse when an accidental traumatic history is absent or inconsistent with the injuries. Nevertheless, this case illustrates the importance of a systematic and rigorous forensic examination, rather than ignoring other possible diagnoses.

[Diagnosis of a rare and severe inflammatory bowel disease in an infant with peri-orificial ulcerations]. / Diagnostic d'une maladie inflammatoire rare et sévère de l'intestin chez un nourrisson présentant des ulcérations péri-orificielles.

We report the case of an infant aged 8 and a half months, who had an apparent life-threatening event and died despite optimal resuscitation management. The medical history was marked by mild symptoms, mainly feeding difficulties and progressively settling skin lesions. Parents were related (first cousins) and the patient had two healthy older sisters. Autopsy showed growth delay, symmetrical erythematous and ulcerated periorificial lesions associated with punctiform erythematous lesions of the face and alopecia. Microscopic examination revealed deep bronchial inhalation with the onset of infectious pneumopathy, major inflammatory ulceration of the gastrointestinal tract, hepatic steatosis, brain stem and pancreas abnormalities. We conclude that the cause of death was a multi-visceral failure with inhalation pneumopathy, in a context of very early onset inflammatory bowel disease (VEO-IBD). Genetic consultation, into a rare disease reference center, allowed to orient the analysis, to identify a homozygous pathogenic variant in the IL10RA gene, confirming the diagnostic of an autosomal recessive very early onset inflammatory bowel disease (inflammatory bowel disease 28, early-onset, autosomal recessive, #613148).

Pictorial review of the postmortem computed tomography in neonaticide cases.

Neonaticide is defined by the deliberate killing or homicide of a child within 24 h of its birth. In this context, three fundamental questions are generally asked of the forensic pathologist: what is the cause of death of the neonate? Was the child viable (i.e., what is the gestational age of the neonate)? Finally, was the neonate stillborn or liveborn?Postmortem imaging can help answer these questions by conducting (1) a complete lesional analysis of the body and the placenta, (2) an estimation of the gestational age by measuring the lengths of the diaphyseal long bones, and (3) an analysis of the aeration of the lungs and intestines. Using the details of 18 cases, we illustrate aspects of neonaticide cases in postmortem computed tomography (PMCT), offering detailed examples of notable postmortem changes and abnormalities, especially in the analysis of the pulmonary parenchyma. This article presents a useful iconography for the radiologist confronted with this rare yet complex forensic situation.

[Point of view: A lesson from lockdown, histopathology through videoconferencing]. / Point de vue : une leçon tirée du confinement, l'histopathologie en visioconférence.

The use of videoconferencing had increased significantly during lockdown. During this period, videoconferencing has been used in the pathological department of pathology (Timone university hospital, Marseille, France) for academic, diagnosis and referral. We provide our point of view regarding the use of this tool. As discussing slides through videoconferencing is a new and specific activity, we have also summarised specific recommendations for practical remote histopathology meetings.

[Low grade glioma with MYBL1 alteration: Case report of an uncommon pediatric neoplasm]. / Gliome de bas grade avec altération de MYBL1 : observation d'une nouvelle entité tumorale pédiatrique.

Diffuse gliomas with MYB or MYBL1 alterations are rare tumours mostly affecting children or young adults with long-term epilepsy. This category of glioma includes two morphological subtypes. The angiocentric subtype is characterized by an angiocentric pattern of growth and a frequent MYB:QKI fusion. The isomorphic subtype corresponds to a highly differentiated astrocytic glioma with low cellularity, low proliferation and no specific microscopic features. The diagnosis is based on the imaging, demonstrating a supratentorial tumor, associated with the confirmation of a MYB or MYBL1 rearrangement. Here, we report the case of a 7-year-old child who presented a right frontal brain lesion corresponding to an isomorphic diffuse glioma with MYBL1 alteration.

Lung density measurement in postmortem computed tomography: a new tool to assess immediate neonatal breath in suspected neonaticides.

INTRO: Evidence of breath after birth is one of the main forensic issues in suspected neonaticide. Hydrostatic test (HT) and pathological examination are currently used to assess it, but they are not entirely reliable or immediately available. OBJECTIVE: To determine the performance of postmortem computed tomography (PMCT) to assess neonatal breath in suspected neonaticide, by comparing lung CT attenuation values between live birth and stillbirth cases, in correlation with HT and pathology. METHOD: Cases of suspected neonaticides who underwent a PMCT and complete forensic autopsy with an HT were retrospectively selected from the databases of four French Forensic Medicine Departments. The diagnosis of vitality (i.e., stillbirth or live birth) was based on the pathological examination and/or a combination of arguments, including HT result. Lung density on CT was measured in Hounsfield units (HU) by ROIs drawn in both pulmonary parenchymas. RESULTS: Eleven patients were included, six live birth and five stillbirth cases. The result of HT was concordant with pathological examination when available (seven cases). Mean lung densities in live birth cases (- 173 HU [- 255; - 91 CI 95%]) were significantly lower than in stillbirth cases (40 HU [28; 52 CI 95%]) (p < 0.05), with a very high degree of interobserver reproducibility (ICC = 0.998 (CI 95% 0.991-0.999; p < 0.001). CONCLUSION: PMCT and especially lung CT attenuation measurement is a reliable and easy-to-use method for assessing neonatal breath in suspected neonaticides.

Histological dating of subdural hematoma in infants.

BACKGROUND: After infant deaths due to non-accidental head injury (NAHI) with subdural hematoma (SDH), the magistrates ask experts to date the traumatic event. To do so, the expert only has tools based on adult series of NAHI. We aimed to develop an SDH dating system applicable to infants aged under 3 years. METHODS AND RESULTS: We studied a retrospective multicenter collection of 235 infants who died between the ages of 0 and 36 months, diagnosed with SDH by forensic pathological examination and with known posttraumatic interval (PTI). Two pathologists assessed blindly and independently 12 histomorphological criteria relating to the clot and 14 relating to the dura mater in 73 victims (31 girls, 42 boys) whose median age was 3.8 months. Histopathological changes were significantly correlated with PTI for the appearance of red blood cells (RBCs) and the presence or absence of siderophages, and regarding the dura mater, the quantity of lymphocytes, macrophages, and siderophages; presence or absence of hematoidin deposits; collagen and fibroblast formation; neomembrane thickness; and presence or absence of neovascularization. Dating systems for SDH in adults are not applicable to infants. Notably, neomembrane of organized connective tissue is formed earlier in infants than in adults. CONCLUSION: Our dating system improves the precision and reliability of forensic pathological expert examination of NAHI, particularly for age estimation of SDH in infants. However, the expert can only define a time interval. Histopathology is indispensable to detect repetitive trauma.

[Glomerulopathy associated with lecithin-cholesterol-acyltransferase deficiency: A case report and literature review]. / Glomérulopathie associée à un déficit en lécithine-cholestérol-acyltransférase : rapport de cas et revue de la littérature.

Glomerulopathy associated with lecithin-cholesterol-acyltransferase deficiency (LCAT) is a rare automosal recessive disease. Acquired LCAT deficiency due to inhibitory autoantibodies against LCAT are also described. This disease is induced by systemic deposits related to a lipid metabolism disorder and lead to multi-organ involvement including renal involvement. Lipid profile usually shows variable cholesterol levels but very low HDL levels. Here we describe the case of a 33-year-old man presenting a nephrotic syndrome associated with moderate renal insufficiency for which the pathological analysis allowed to guide towards the diagnosis of LCAT deficiency. Laboratory and genetic data confirmed this diagnosis. Familial history and lipid profile abnormalities are important in the identification of this disease.

[Diffuse esophageal leiomyomatosis and Alport's syndrome: A case report and review of the literature]. / Léiomyomatose œsophagienne diffuse et syndrome d'Alport : rapport d'un cas.

Diffuse esophageal leiomyomatosis is a rare esophageal tumor characterized by circumferential thickening of smooth muscle layers. Diffuse esophageal leiomyomatosis can be associated with Alport's syndrome and therefore diagnosed by skin biopsy. Alport syndrome is a hereditary disease usually defined by the association of glomerular nephropathy and perceptual deafness. Here we describe the management of a young women with a diffuse esophageal leiomyomatosis and a past history of uterine leiomyoma. The surgical treatment depends on the esophageal extent of the disease. Association between diffuse esophageal leiomyomatosis and early uterine leiomyomas could be also observed and leading to Alport's syndrome diagnosis despite the absence of renal abnormalities.

Does the medical autopsy still have a place in the current diagnostic process? A 6-year retrospective study in two French University hospitals.

Medical autopsies have been in considerable decline for several decades, in France and worldwide. We aimed to determine whether a medical autopsy still currently has a role to play in diagnosis, by analyzing its performance and diagnostic limitations. This dual-centre retrospective descriptive study included all medical autopsies performed in the university hospitals of Lille and Marseille, France, between January 2007 and December 2012. Autopsies of fetuses or stillborn infants, or those related to sudden infant deaths and research protocols were excluded. 412 medical autopsies were included. The male:female ratio was 1.5:1 and mean age was 27.3 years. Half of all autopsies were pediatric. Regarding anatomical region and/or injury mechanism, a clinical diagnosis was suggested in 52.2% of cases, an autopsy diagnosis in 55.6% and a microscopic diagnosis in 81.8%. There was very low agreement between the clinician's suggested diagnosis and the final diagnosis, both for organ specific diseases and cause of death. Agreement was moderate between autopsy diagnoses and microscopic diagnoses for organ specific diseases and low for cause of death. From our findings we concluded that an autopsy associated with microscopic examination was still valuable in diagnosing cause of death. Microscopic examination was indispensable to determine certain causes of death.

[Neuropathology of sudden infant death syndrome: Review of the literature and proposal of a protocol for neuropathological examination]. / Neuropathologie du syndrome de la mort inattendue du nourrisson : revue de la littérature et proposition d'un protocole pour l'examen neuropathologique.

According to the French High Authority for Health, sudden unexpected death in infants (SUDI) is defined as "a sudden death that occurs in an infant, whereas nothing in its known history could have predicted it". This is an exclusion diagnosis. There are great interregional disparities despite the professional recommendations established in February 2007. For the examination of the brain, instructions are not adapted to current and research practice. The role of the pathologist, like anyone involved in SUDI, is to eliminate an abuse head trauma and to determine the cause of death. Major neuropathological lesions by definition do not exist. Lesions of hypoxia/ischemia are the most frequent but not specific. The accessibility of anti-APP immunoblotting has highlighted the role of anoxia in the development of axonal diffuse damages. Many studies are looking for a neurological substratum of the SUDI (neuropathological and/or neurobiochinic). This article aims to define a detailed sampling protocol based on foreign consensus and current data of science in order to assist pathologists and to promote a homogeneous data bank in France.

[Chordoma cutis, an unusual clinical presentation of a rare neoplasm: Chordoma]. / Chordoma cutis, un tableau clinique rare d'une tumeur inhabituelle : le chordome.

Chordoma cutis represents an unusual clinical presentation of a rare neoplasm. The involvement of skin or sub-cutaneous soft tissues can be the consequence of local infiltration or metastasis; the latter may occur several years following the initial diagnosis of chordoma and therefore, may pose a diagnosis challenge when the clinical history of the patient is unknown. The clinical forms, morphology, immuno-histochemical profile and the main differential diagnoses of chordoma cutis are presented here through an anatomoclinical case.

[Immunoglobulin G4-related lung disease: Case report and literature review]. / Maladie à immunoglobuline G4 pulmonaire : rapport de cas et revue de littérature.

We report the case of a 61-year-old man with a pulmonary nodule discovered while staging the metastasis of a squamous cell carcinoma. No primary cancer was found. Histological examination of the resected specimen (lingula) was in favor of IgG4-related inflammatory pseudotumor. Histological criteria were described in 2012, combining a dense lymphoplasmacitic infiltrate rich in IgG4-positive plasma cell, storiform fibrosis and obliterative phlebitis. IgG4/IgG plama cell ratio>40 % is mandatory for histological diagnosis of IgG4-related disease. This is a rare and often underdiagnosed disease. Diagnostic criteria are now defined and consensual, combining clinical signs, biology and histology.

[Adenomyoepithelioma with dominant myoepithelial contingent of the breast: A case report and literature review]. / Adénomyoépithéliome avec contingent myoépithélial prédominant du sein : à propos d'une observation et revue de la littérature.

We report a case of adenomyoepithelioma with predominant myoepithelial quota, a rare tumor of the breast due to proliferation of epithelial and myoepithelial cells in a patient of 71 years. This lesion, with difficult radiological and pathological diagnosis (biopsy) in the initial stage of the treatment, should benefit from surgical resection in healthy margin. In fact, this tumor is evolving in most cases on a benin mode, but cases of local or metastatic recurrences were reported. Histological and immunohistochemical arguments are important to reach the final diagnosis.

Psychiatric disorders and management of sexual offenders in the prison psychiatric consultation unit of Marseille.

Since 2017, complaints of sexual violence have increased in France. At the same time, the management of sexual offenders has been at the center of international public health policies. The prevalence of mental disorders among sexual offenders is an essential field of research. There are some published studies on the prevalence of psychiatric disorders in sexual offenders in detention, but there are few recent published studies among French individuals who were detained. Our objectives were to determine the prevalence of psychiatric disorders among persons detained for sexual offenses and the level of care received according to their diagnosis. For this purpose, we carried out a retrospective observational study from January 2017 to October 2021 of all adult sexual offenders, whether accused or convicted, who were seen in the psychiatric consultation unit of Les Baumettes prison, Marseille, France. The primary outcome measure was the psychiatric diagnosis entered in the medical records. One hundred forty-two patients were included in analysis. All patients were men, and the majority (n = 97, 68.3%) of these patients presented with at least one psychiatric disorder, principally a personality disorder (31.7%). 10.6% presented with a schizophrenic disorder, 4.9% a bipolar disorder, 3.5% a depressive disorder, 5.6% pedophilic paraphilia, and 25.4% an addictive disorder. Their management and comorbid addictions were analyzed in subgroups for each psychiatric disorder. Patients appeared to receive an appropriate level of care for their diagnosed disorder. It seems important to develop structured assessment of recidivism risk for better management of sexual offenders.

Head injury: Importance of the deep brain nuclei in force transmission to the brain.

Finite element modeling provides a digital representation of the human body. It is currently the most pertinent method to study the mechanisms of head injury, and is becoming a scientific reference in forensic expert reports. Improved biofidelity is a recurrent aim of research studies in biomechanics in order to improve earlier models whose mechanical properties conformed to simplified elastic behavior and mechanic laws. We aimed to study force transmission to the brain following impacts to the head, using a finite element head model with increased biofidelity. To the model developed by the Laboratory of Applied Biomechanics of Marseille, we added new brain structures (thalamus, central gray nuclei and ventricular systems) as well as three tracts involved in the symptoms of head injury: the corpus callosum, uncinate tracts and corticospinal tracts. Three head impact scenarios were simulated: an uppercut with the prior model and an uppercut with the improved model in order to compare the two models, and a lateral impact with an impact velocity of 6.5 m/s in the improved model. In these conditions, in uppercuts the maximum stress values did not exceed the injury risk threshold. On the other hand, the deep gray matter (thalamus and central gray nuclei) was the region at highest risk of injury during lateral impacts. Even if injury to the deep gray matter is not immediately life-threatening, it could explain the chronic disabling symptoms of even low-intensity head injury.

Traumatic axonal injury: Clinic, forensic and biomechanics perspectives.

Identification of Traumatic axonal injury (TAI) is critical in clinical practice, particularly in terms of long-term prognosis, but also for medico-legal issues, to verify whether the death or the after-effects were attributable to trauma. Multidisciplinary approaches are an undeniable asset when it comes to solving these problems. The aim of this work is therefore to list the different techniques needed to identify axonal lesions and to understand the lesion mechanisms involved in their formation. Imaging can be used to assess the consequences of trauma, to identify indirect signs of TAI, to explain the patient's initial symptoms and even to assess the patient's prognosis. Three-dimensional reconstructions of the skull can highlight fractures suggestive of trauma. Microscopic and immunohistochemical techniques are currently considered as the most reliable tools for the early identification of TAI following trauma. Finite element models use mechanical equations to predict biomechanical parameters, such as tissue stresses and strains in the brain, when subjected to external forces, such as violent impacts to the head. These parameters, which are difficult to measure experimentally, are then used to predict the risk of injury. The integration of imaging data with finite element models allows researchers to create realistic and personalized computational models by incorporating actual geometry and properties obtained from imaging techniques. The personalization of these models makes their forensic approach particularly interesting.