A pathological Neandertal thumb phalanx from Moula-Guercy (France).

OBJECTIVE: To discuss a Neandertal pathological adult first pollical proximal phalanx (I2-104) from the Baume de Moula-Guercy (Ardèche, France) and evaluate the possible causes of this pathology. METHODS: Macroscopic analyses of external features, as well as CT imaging, were used in the analysis RESULTS: The presence of asymmetric eburnation on the distal epiphysis associated with an osteophyte on the palmar surface, as well as the absence of periosteal bone reaction visible on CT images, is consistent with osteoarthritis. CONCLUSION: Osteoarthritis (OA) can have different origins and the cause is difficult to identify. The pathology of the Moula-Guercy I2-104 phalanx may be due to a genetic predisposition for OA known in Neandertals and associated with short limb bones. The OA could have been aggravated by the age of this individual and by an inflammatory reaction caused by repeated movements and intense vibrations provoked by high-frequency knapping or by other use of the hands SIGNIFICANCE: The I2-104 phalanx is the first Neandertal pollical phalanx known to display OA, although joints of this bone are frequently affected by this pathology in modern humans. Thus, greater insight into the presence and consequences of Neandertal behaviors is offered LIMITATION: It is impossible to give a definitive conclusion on the cause(s) of the OA in this case. SUGGESTIONS FOR FURTHER RESEARCH: More data is needed concerning OA within Neandertals and its relationship with behavior and genetics.

Exploration of the fetal skeleton by ultra-low-dose computed tomography: guidelines from the Fetal Imaging Task Force of the European Society of Paediatric Radiology.

Skeletal anomalies are rare, requiring a systematic ultrasound (US) examination of each skeletal part when there is suspicion of a skeletal dysplasia. Although US examination can provide good evaluation of the fetal bones and cartilage, ultra-low-dose three-dimensional (3-D) multi-detector computed tomography (CT) is a useful complementary tool that can significantly improve prenatal diagnostic accuracy in select cases. Given that ultra-low-dose fetal CT remains an irradiating technique, indications should result from a multidisciplinary consensus, acquisition protocols should be optimized and the reporting standardized. In this paper we discuss guidelines from the Fetal Imaging Task Force of the European Society of Paediatric Radiology for indications, protocols and reporting of ultra-low-dose fetal CT.

Incidence of child abuse with subdural hemorrhage during the first year of the COVID-19 pandemic: a nationwide study in France.

The global COVID-19 pandemic prompted governments to impose unprecedented sanitary measures, such as social distancing, curfews, and lockdowns. In France and other countries, the first COVID-19 lockdown raised concerns about an increased risk of child abuse. Abusive head trauma (AHT) is one of the most serious forms of child abuse in children aged 0-24 months and constitutes the leading cause of death in children under 2 years of age. Subdural hemorrhage (SDH) is present in 89% of cases of AHT and constitutes one of the most specific, objective clinical presentations in the diagnosis of child abuse. In a French nationwide study, we sought to evaluate the potential impact of the first year of the COVID-19 pandemic on the incidence of hospital admissions for child abuse with SDH, relative to the two previous years. We conducted a nationwide, retrospective study of data in the French national hospital discharge summary database by applying the International Classification of Diseases (10th Revision) codes for SDH and for child abuse. After including children aged up to 24 months with a diagnosis of child abuse and/or SDH following hospital admission anywhere in France between January 1, 2018, and December 31, 2020, we compared the incidence of child abuse, the incidence of SDH + child abuse, and the demographic data for 2020 with the corresponding values for 2018 and 2019. There were no significant differences in the number of hospital admissions due to child abuse or SDH + child abuse between 2020 and the 2018/2019 control years. The incidence of SDH + child abuse was higher among boys than among girls. There were significantly fewer hospital admissions in May 2020 (p = 0.01) and significantly more in December 2020 (p = 0.03), relative to the same months in the two preceding years. There was a nonsignificant trend toward a lower incidence of hospital admission for child abuse in 2020, relative to 2019 (decrease: 6.4%) and 2018 (decrease: 7.6%). CONCLUSION: When considering children under the age of 24 months in France, the incidence of hospital admission for SDH in the context of child abuse was not significantly higher in 2020 than in the two previous years. WHAT IS KNOWN: • The impact of COVID-19 lockdown on child abuse and more specifically on subdural hemorrhage remains unknown. WHAT IS NEW: • There was no increase in hospitalizations for child abuse and AHT. • We found that boys are more often victims of child abuse and subdural hemorrhage among children aged less than 12 months.

Relevance of Routine Abdominopelvic Ultrasound in Suspected Child Abuse in Children Under 2 years of Age: Review of 15 years of Experience.

In France, the current recommendation is to perform a routine abdominopelvic ultrasound in any child under 2 years of age who is suspected to have been abused. We retrospectively studied the relevance of this practice in our center over the past fifteen years. This was a descriptive, retrospective study of all children under 2 years of age who had been subject to suspected abuse. Abdominal images and reports were reviewed and cross-referenced with possible clinical and biological signs. Four hundred and five children were included between 2006 and 2020, of whom 296 underwent abdominal imaging (2 initial abdominopelvic CT scans, 4 ultrasounds followed by CT scans, and 290 ultrasounds alone). Four examinations revealed traumatic abnormalities related to abuse. These four children all had clinical or biological anomalies. In the absence of clinical or biological signs, no imagery showed any abnormality related to abuse.

Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions.

Non-ossifying fibromas are seen in different disorders recognizable by specific features. Indeed, osteoglophonic dysplasia (OD) is characterized by radiolucent bone lesions associated with severe short stature, dysmorphism and failure of dental eruption. This syndrome is caused by heterozygous activating mutations in the immunoglobulin-like D3 domain of the FGFR1 gene, encoding a tyrosine kinase. Here, we report three patients from the same family presenting with radiolucent bone lesions and teeth retentions. Exome sequencing allowed identification of a novel mutation c.917C > T, p. Pro306Leu in exon 7 of the FGFR1 gene. Our patients present with normal stature and no severe dysmorphism. This report describes a mild form of OD and expands the phenotype related to FGFR1 mutations. These findings emphasize the need to consider FGFR1 variants in the case of multiple non-ossifying bone lesions associated with dental eruption anomalies.

The complementary role of imaging modalities in Binder phenotype. Can prognostic factors of neonatal respiratory distress be found?

OBJECTIVE: To evaluate the complementarity between prenatal ultrasound, computed tomography, and MRI scans for fetuses with Binder phenotype. METHODS: We carried out a retrospective study from January 1, 2009, to June 30, 2018, of fetuses with Binder phenotype. Prenatal ultrasound (US) data were collected. A systematic survey of the entire skeleton was performed to look for associated abnormalities such as calcifications, brachytelephalangy, and spinal stenosis. Parents were systematically offered fetal skeletal computed tomography (CT). RESULTS: Thirteen cases were included. Two cases of perinatal respiratory distress (18%) were observed. Chondrodysplasia punctata was diagnosed from the presence of calcifications, especially of the proximal femoral epiphyses and tarsal bones, in five cases (38%) by US and in 10 cases (83%) by CT. Calcifications of the hyoid bone were detected by CT in three cases (25%) one of which had respiratory distress. Polyhydramnios was associated with the Binder phenotype in four cases (30%) one of which had respiratory distress. One single fetus had combined polyhydramnios and laryngeal calcifications, and he suffered from perinatal respiratory distress. CONCLUSION: An antenatal diagnosis of Binder phenotype is often associated with chondrodysplasia punctata. We recommend the use of fetal CT as a complement to US in this condition.

Sacroiliac joint morphologic changes from infancy to adulthood.

BACKGROUND CONTEXT: Report of sacroiliac morphology changes during growth is limited in the literature and the interest of such morphology and its consequence for surgery is increasing. PURPOSE: Aims of this work are (1) to anatomically define the sacroiliac joint (SIJ), and (2) to assess the influence of growth on the sacroiliac morphology and the pelvic parameters. STUDY DESIGN: Forty-nine young subjects from 6 months to 18 years old (y/o) and 20 adults aged from 18 to 50 y/o were selected from our institutional patient database. METHODS: They underwent a computed tomography (CT) examination on a 128-MDCT (GE Healthcare Optima CT660). Transverse CT image datasets were reconstructed, anonymized, and segmented with ITK-SNAP. Landmarks and surfaces were selected and a SIJ orientation analysis was performed using costumed Python scripts. RESULTS: The subjects were divided into four groups: infants (1.9±1 y/o), children (6.9±1.7 y/o), adolescents (13.7±1.8 y/o), and adults (27.3±5.6 y/o). Differences between SIJ orientation were found significant between young subject groups for synovial sacrum SIJ orientation (p<.001) and iliac total SIJ orientation (p=.036). Both orientations of younger subjects were found significantly different from the adult group (p<.035). SIJ synovial sacrum and iliac total orientations correlated significantly with age (p<.03). All orientations correlated with pelvic incidence (p<.04) except for synovial sacrum SIJ orientation (p=.2). No gender or symmetrical differences were found significant in any group. CONCLUSIONS: Morphologic definition of the SIJ confirmed the independency of the gender during growth. Such results will be beneficial for the analysis and management of vertebral pathology.

Generalized arterial calcification of infancy with a novel ENPP1 mutation: a case report.

BACKGROUND: Generalized Arterial Calcification of Infancy (GACI) is a heritable ectopic mineralization disorder resulting in diffuse arterial calcifications and/or stenosis, mostly caused by mutations in the ENPP1 gene. Here we present a case report of GACI in a male infant with a new familial mutation of the ENPP1 gene and the clinical outcome after biphosphonates therapy. CASE PRESENTATION: The clinical presentation was characterized by a severe early-onset of hypertension refractory to multiple therapy. To investigate this atypical hypertension, a renal Doppler ultra-sonography was performed and diffuse echo-bright arteries were detected; then a low-dose whole-body computed tomography demonstrated extensive arterial calcifications, suggesting GACI. A novel homozygous mutation c.784A > G (p.Ser262Gly) was detected in the ENPP1 gene. The infant was administered four courses of bisphosphonates: arterial calcifications were found to decrease but severe refractory hypertension was persistent. Although GACI can be a rapidly fatal illness and frequently results in death in infancy, the patient was 24 months of age at the time of writing this report. CONCLUSIONS: Three points of interest: the first one is to remind clinicians of this rare and atypical etiology in neonates with severe hypertension and in fetuses with cardiomyopathy and non-immune hydrops fetalis. The second point is the identification of a novel mutation in the ENPP1 gene associated with a clinical presentation of GACI. The third point is the fairly favourable outcome of our patient after bisphosphonates therapy, with calcifications regression but not hypertension.

Cervical Facet Orientation Varies with Age in Children: An MRI Study.

BACKGROUND: Within the spine, mobility and stability are principles that drive anatomic morphology. Based on radiographic measurements, the orientation of cervical facet joints has been proven to change throughout child growth. However, because of the mainly cartilaginous composition of the vertebrae in the young child, the lack of osseous landmarks makes radiograph-based measurements unreliable. The aims of our study were to evaluate the change in the sagittal orientation of the cervical facet joints with age based on magnetic resonance imaging (MRI) of asymptomatic children and to compare it to the changes in vertebral body dimensions. METHODS: Sagittal images passing through the center of the facet joint or through the center of the vertebral body were used to assess facet orientation at every cervical level. Anteroposterior facet orientation was defined as the angle between the superior facet and a line perpendicular to the posterior wall of the vertebral body. Vertical was defined as parallel to the posterior wall; horizontal was defined as perpendicular to the posterior wall. Vertebral body height and anteroposterior diameter were measured as well. RESULTS: MRI data of the normal cervical spine of 90 children who were 2 months to 18 years of age, obtained for neurologic evaluation, were used for this study. For each level from C3 to C7, there was a positive correlation between facet orientation and age (R = 0.498, p < 0.001). The facet joints were the most vertical at C3 (43.9°) and C7 (49.6°), whereas C5 had the most horizontal facets (39.4°). The greatest rate of change in facet orientation was observed between 6 and 9 years of age. CONCLUSIONS: Our results demonstrate that facets become more vertical as a function of age. However, other parameters than age must be considered to explain the variation of facet orientation. At C3 and C7, the facet orientation was more vertical, which may increase stability. In between, C5 facets were shallower, which may increase mobility and flexion-extension range of motion.

Predicting postnatal renal function of prenatally detected posterior urethral valves using fetal diffusion-weighted magnetic resonance imaging with apparent diffusion coefficient determination.

OBJECTIVE: The objective of this study was to evaluate the accuracy of fetal diffusion-weighted magnetic resonance imaging with apparent diffusion coefficient (ADC) determination to predict postnatal renal function (nadir creatinine at 1 year and eGFR) of men with posterior urethral valves (PUV). METHODS: Between 2003 and 2014, 11 MRI were performed on fetuses (between 28 and 32 weeks) in whom second trimester sonography suggested severe bilateral urinary tract anomalies, suspected of PUV. RESULTS: The ADC of the 11 fetuses ranged from 1.3 to 2.86 mm2  s-1 (median = 1.79 mm2  s-1 , normal range for fetal kidney: 1.1-1.8). Two pregnancies with ADC > 2.6 mm2  s-1 were interrupted; the autopsy confirmed PUV and Potter syndrome. For the remaining nine babies, the follow-up was 5.4 years (0.8-10). Four children with abnormal ADC (1.8-2.3) had chronic kidney disease. The remaining five cases with normal nadir creatinine and eGFR had normal ADC. One case with unilateral elevated ADC had a poor ipsilateral renal function on dimercaptosuccinic acid scan. CONCLUSION: Here, it seems that diffusion-weighted magnetic resonance imaging with ADC determination could be useful in accurately evaluating fetal kidneys in PUV and predicting renal function. It may be an additional, non-invasive method when biologic and sonographic findings are inconclusive, especially in the case of oligohydramnios. Further studies are needed to confirm our data. © 2017 John Wiley & Sons, Ltd.

[Case study of two children with intervertebral disc calcifications]. / Calcifications discales intervertébrales chez l'enfant: à propos de deux cas.

Disc calcifications are usually revealed in children by pain crises that affect the spine. The most common location for disc calcifications is the cervical spine. However, other locations are less symptomatic and they may well go unnoticed. We here report two cases of children hospitalized with symptomatic cervical disc calcifications. The first case involves a girl aged four and a half suffering from torticollis revealing the migration of a previously asymptomatic disc calcification ; the second case, instead, involves a 5-year old boy presenting for acute neck pain and in whom calcification disc was detected. Treatment was essentially conservative. Intervertebral disc calcifications in children are a rare condition whose etiopathogenesis remains unknown. In the case of children with unexplained back pain the diagnosis should not be made without careful neurological examination and imaging tests.

Three-dimensional imaging of past skeletal TB: From lesion to process.

3D imaging has become an essential tool in the field of biological anthropology, notably for human evolution purposes. High resolution virtual 3D reconstructions of original specimens contribute to their preservation and broaden the ability for research, teaching and exchanges. Paleopathology can get substantial benefit from these methods, among others for reconstructing infectious pathological processes on ancient bones. Tuberculosis is frequently diagnosed on ancient human remains; however, some osseous expressions are difficult to interpret using classical methods. We illustrate here the interest of 3D methods for reconstructing processes involved in pathological bone changes due to Mycobacterium tuberculosis infection. Four paleopathological specimens attributed to this infection, dating from different time periods and concerning diverse parts of the skeleton have been analyzed using a specific 3D digital chain we have previously developed. These 3D analyses allow to virtually reconstruct the initial location and aspect of the infectious process, its extension as well as its possible diffusion to the surrounding soft tissues. This possible virtual follow-up of the disease leads to the concept of processual paleopathology that we would like to introduce in the field. The 3D methodology can help to improve our knowledge of natural history and evolution of ancient human infections such as tuberculosis.

Langerhans cell histiocytosis or tuberculosis on a medieval child (Oppidum de la Granède, Millau, France - 10th-11th centuries AD).

In 2008, a skeleton of a 1 - 2.5-year-old child radiocarbon dated from the 10th - 11th century AD was discovered on the oppidum of La Granède (Millau, France). It presents multiple cranial osteolytic lesions having punched-out or geographical map-like aspects associated with sequestrum and costal osteitis. A multi 3D digital approach (CT, µCT and virtual reconstruction) enabled us to refine the description and identify the diploic origin of the lytic process. Furthermore, precise observation of the extent of the lesions and associated reorganization of the skeletal micro-structure were possible. From these convergent pieces of evidence, the differential diagnosis led to three possibilities: Langerhans cell histiocytosis, tuberculosis, or Langerhans cell histiocytosis and tuberculosis.

Homo erectus at Trinil on Java used shells for tool production and engraving.

The manufacture of geometric engravings is generally interpreted as indicative of modern cognition and behaviour. Key questions in the debate on the origin of such behaviour are whether this innovation is restricted to Homo sapiens, and whether it has a uniquely African origin. Here we report on a fossil freshwater shell assemblage from the Hauptknochenschicht ('main bone layer') of Trinil (Java, Indonesia), the type locality of Homo erectus discovered by Eugène Dubois in 1891 (refs 2 and 3). In the Dubois collection (in the Naturalis museum, Leiden, The Netherlands) we found evidence for freshwater shellfish consumption by hominins, one unambiguous shell tool, and a shell with a geometric engraving. We dated sediment contained in the shells with (40)Ar/(39)Ar and luminescence dating methods, obtaining a maximum age of 0.54 ± 0.10 million years and a minimum age of 0.43 ± 0.05 million years. This implies that the Trinil Hauptknochenschicht is younger than previously estimated. Together, our data indicate that the engraving was made by Homo erectus, and that it is considerably older than the oldest geometric engravings described so far. Although it is at present not possible to assess the function or meaning of the engraved shell, this discovery suggests that engraving abstract patterns was in the realm of Asian Homo erectus cognition and neuromotor control.

Prognostic value of abdominal sonography in necrotizing enterocolitis of premature infants born before 33 weeks gestational age.

OBJECTIVE: The purpose of this study was to assess the prognostic value of abdominal sonography in necrotizing enterocolitis (NEC) in preterm infants with a gestational age less than 33 weeks of gestation, using surgery and/or death as the primary outcome and stenosis as the secondary outcome. METHODS: A retrospective study of 95 premature infants (mean gestational age: 28.6 weeks), presenting with NEC between January 2009 and November 2011 and who underwent plain abdominal radiography and sonography, was performed. In uni- and multivariate analyses, radiographic and sonographic findings were correlated with complications ('surgery and/or death' and 'stenosis'). RESULTS: Sonographic findings of free intraperitoneal air (odd ratio [OR]=8.0; IC, 1.4-44.2), free abdominal fluid (OR 3.5; IC 1.3-9.4), portal venous gas (OR 3.9; IC, 1.2-12.9), and bowel wall thickening (OR 2.8; IC,1.1-7.2) were significantly associated with surgery and/or death. Intramural gas was significantly correlated (OR=11.8; IC, 1.5-95.8) with intestinal stenosis following NEC. None of the radiographic findings were associated with complications. CONCLUSION: Abdominal sonography is a reliable tool for the prognostic assessment of NEC in preterm infants.

VAT=TAAT-SAAT: innovative anthropometric model to predict visceral adipose tissue without resort to CT-Scan or DXA.

OBJECTIVE: To investigate whether a combination of a selected but limited number of anthropometric measurements predicts visceral adipose tissue (VAT) better than other anthropometric measurements, without resort to medical imaging. HYPOTHESIS: Abdominal anthropometric measurements are total abdominal adipose tissue indicators and global measures of VAT and SAAT (subcutaneous abdominal adipose tissue). Therefore, subtracting the anthropometric measurement the more correlated possible with SAAT while being the least correlated possible with VAT, from the most correlated abdominal anthropometric measurement with VAT while being highly correlated with TAAT, may better predict VAT. DESIGN AND METHODS: BMI participants' range was from 16.3 to 52.9 kg m(-2) . Anthropometric and abdominal adipose tissues data by computed tomography (CT-Scan) were available in 253 patients (18-78 years) (CHU Nord, Marseille) and used to develop the anthropometric VAT prediction models. RESULTS: Subtraction of proximal thigh circumference from waist circumference, adjusted to age and/or BMI, predicts better VAT (Women: VAT = 2.15 × Waist C - 3.63 × Proximal Thigh C + 1.46 × Age + 6.22 × BMI - 92.713; R(2) = 0.836. Men: VAT = 6 × Waist C - 4.41 × proximal thigh C + 1.19 × Age - 213.65; R(2) = 0.803) than the best single anthropometric measurement or the association of two anthropometric measurements highly correlated with VAT. Both multivariate models showed no collinearity problem. Selected models demonstrate high sensitivity (97.7% in women, 100% in men). Similar predictive abilities were observed in the validation sample (Women: R(2) = 76%; Men: R(2) = 70%). Bland and Altman method showed no systematic estimation error of VAT. CONCLUSION: Validated in a large range of age and BMI, our results suggest the usefulness of the anthropometric selected models to predict VAT in Europides (South of France).

A rare case of a calcified glomus tumour in the thigh of an adolescent.

Glomus tumours are clinically defined by a triad of symptoms, i.e. paroxysmal pain, pinpoint tenderness and hypersensitivity to cold. These tumours typically affect the upper limbs, are small in size, superficially located and mostly found in adults. During a radiologic assessment of an idiopathic scoliosis in a 13-year-old girl, we found a calcified mass lesion in the soft tissue of the proximal thigh. The child was asymptomatic. Complementary exams permitted the definition of an interfascial calcified tumour with a long axis of 50 mm, with an inferior polar soft-tissue component. After excision, the anatomical pathology analysis confirmed the diagnosis of calcified glomus tumour. This clinical and radiologic presentation is particularly uncommon for a glomus tumour, which enriches the range of differential diagnoses of calcified masses in soft tissue.