Holoprosencephaly (HPE) is the most common congenital cerebral malformation, characterized by impaired forebrain cleavage and midline facial anomalies. Heterozygous mutations in 14 genes have been ...associated with HPE and are often inherited from an unaffected parent, underlying complex genetic bases. It is now emerging that HPE may result from a combination of multiple genetic events, rather than from a single heterozygous mutation. To explore this hypothesis, we undertook whole exome sequencing and targeted high‐throughput sequencing approaches to identify mutations in HPE subjects. Here, we report two HPE families in which two mutations are implicated in the disease. In the first family presenting two foetuses with alobar and semi‐lobar HPE, we found mutations in two genes involved in HPE, SHH and DISP1, inherited respectively from the father and the mother. The second reported case is a family with a 9‐year‐old girl presenting lobar HPE, harbouring two compound heterozygous mutations in DISP1. Together, these cases of digenic inheritance and autosomal recessive HPE suggest that in some families, several genetic events are necessary to cause HPE. This study highlights the complexity of HPE inheritance and has to be taken into account by clinicians to improve HPE genetic counselling.
Objectives
To assess the contribution of whole-body magnetic resonance imaging (WBMRI) and bone scintigraphy (BS) in addition to skeletal survey (SS) in detecting traumatic bone lesions and ...soft-tissue injuries in suspected child abuse.
Methods
In this prospective, multicentre, diagnostic accuracy study, children less than 3 years of age with suspected physical abuse were recruited. Each child underwent SS, BS and WBMRI. A blinded first review was performed in consensus by five paediatric radiologists and three nuclear medicine physicians. A second review investigated discrepancies reported between the modalities using a consensus result of all modalities as the reference standard. We calculated the sensitivity, specificity and corresponding 95% confidence interval for each imaging modality (SS, WBMRI and BS) and for the combinations SS + WBMRI and SS + BS.
Results
One hundred seventy children were included of which sixty-four had at least one lesion. In total, 146 lesions were included. The sensitivity and specificity of each examination were, respectively, as follows: 88.4% 95% CI, 82.0–93.1 and 99.7% 95% CI, 99.5–99.8 for the SS, 69.9% 95% CI, 61.7–77.2 and 99.5% 95% CI, 99.2–99.7 for WBMRI and 54.8% 95% CI, 46.4–63.0 and 99.7% 95% CI, 99.5–99.9 for BS. Sensitivity and specificity were, respectively, 95.9% 95% CI, 91.3–98.5 and 99.2% 95% CI, 98.9–99.4 for the combination SS + WBMRI and 95.2% 95% CI, 90.4–98.1 and 99.4% 95% CI, 99.2–99.6 for the combination SS + BS, with no statistically significant difference between them.
Conclusion
SS was the most sensitive independent imaging modality; however, the additional combination of either WBMRI or BS examinations offered an increased accuracy.
Key Points
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SS in suspected infant abuse was the most sensitive independent imaging modality in this study, especially for detecting metaphyseal and rib lesions, and remains essential for evaluation.
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The combination of either SS + BS or SS + WBMRI provides greater accuracy in diagnosing occult and equivocal bone injuries in the difficult setting of child abuse.
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WBMRI is a free-radiation technique that allows additional diagnosis of soft-tissue and visceral injuries.
Objectives
To investigate the contribution of whole-body post-mortem computed tomography (PMCT) in sudden unexpected death in infants and children.
Methods
Forty-seven cases of sudden unexpected ...death in children investigated with radiographic skeletal survey, whole-body PMCT and autopsy were enrolled. For imaging interpretation, non-specific post-mortem modifications and abnormal findings related to the presumed cause of death were considered separately. All findings were correlated with autopsy findings.
Results
There were 31 boys and 16 girls. Of these, 44 children (93.6 %) were younger than 2 years. The cause of death was found at autopsy in 18 cases (38.3 %), with 4 confirmed as child abuse, 12 as infectious diseases, 1 as metabolic disease and 1 as bowel volvulus. PMCT results were in accordance with autopsy in all but three of these 18 cases. Death remains unexplained in 29 cases (61.7 %) and was correlated with no abnormal findings on PMCT in 27 cases. Major discrepancies between PMCT and autopsy findings concerned pulmonary analysis.
Conclusions
Whole-body PMCT may detect relevant findings that can help to explain sudden unexpected death and is essential for detecting non-accidental injuries. We found broad concordance between autopsy and PMCT, except in a few cases of pneumonia. It is a non-invasive technique acceptable to relatives.
Key Points
• Whole-body post-mortem computed tomography (PMCT) is an effective non-invasive method.
• Whole-body PMCT is essential for detecting child abuse in unexpected death.
• There is concordance on cause of death between PMCT and autopsy.
• Whole-body PMCT could improve autopsy through dissection and sampling guidance.
• PMCT shows findings that may be relevant when parents reject autopsy.
Summary Among the basal ganglia nuclei, the subthalamic nucleus has a major function in the motor cortico-basal ganglia-thalamo-cortical circuit and is a target site for neurosurgical treatment such ...as parkinsonian patients with long-term motor fluctuations and dyskinesia. According to animal and human studies, the motor functions of the subthalamic nucleus have been well documented whereas its implication on limbic functions is still less well understood and is only partially explained by anatomical and functional theories of basal ganglia organisation. After chronic subthalamic nucleus stimulation in patients with Parkinson’s disease, many studies showed executive impairments, apathy, depression, hypomania, and impairment of recognition of negative facial emotions. The medial tip of the subthalamic nucleus represents its limbic part. This part receives inputs from the anterior cingulate cortex, the medial prefrontal cortex, the limbic part of the striatum (nucleus accumbens), the ventral tegmental area and the limbic ventral pallidum. The medial tip of the subthalamic nucleus projects to the limbic part of the substantia nigra and the ventral tegmental area. We propose a new function scheme of the limbic system, establishing connections between limbic cortical structures (medial prefrontal cortex, amygdala and hippocampus) and the limbic part of the basal ganglia. This new circuit could be composed of a minor part based on the model of cortico-basal ganglia-thalamo-cortical loop, and of a major part linking the subthalamic nucleus with the mesolimbic dopaminergic pathway via the ventral tegmental area and the nucleus accumbens, and with limbic cortical structures. This scheme could explain limbic impairments after subthalamic nucleus stimulation by disruption of limbic information inside the subthalamic nucleus and the ventral tegmental area.
Background
Lesion of the lateral femoral cutaneous nerve (LFCN) represents the main complication during minimally invasive anterior approach dissection to the hip joint. The aim of this anatomical ...study was to describe the different presentation features of the LFCN at the thigh and particularly to determine the potential location of damage during minimally invasive anterior approach for total hip replacement.
Methods
The LFCN was dissected bilaterally at the thigh under the inguinal ligament in 17 formalin-preserved cadavers. Branching patterns of the nerve were recorded and distances from the LFCN to the anterior superior iliac spine (ASIS) and the anterior margin of the tensor fascia lata (TFL) were measured to clarify skin incision positioning during minimally invasive anterior approach for total hip replacement.
Results
The LFCN divided proximal to the inguinal ligament in 13 cases and distal to it in 21 cases. In the distal group the mean distance from the ASIS to the nerve division was 34.5 mm (10–72 mm). The gluteal branch crossed the anterior margin of the TFL 44.5 mm (24–92 mm) distally to the ASIS. In 18 cases the femoral branch did not cross the TFL and was located in the intermuscular space between TFL and sartorius. In the remaining 16 cases, this branch crossed the anterior margin of the TFL 46 mm (27–92 mm) distally to the ASIS. During minimally invasive anterior approach along the anterior border of the TFL, the LFCN was found to be potentially at risk between 27 and 92 mm below the ASIS. We used those informations to describe a map of “danger zones” for the LFCN or its two main branches.
Conclusion
According to this study, numerous anatomical variations of the LFCN at the thigh should be considered when performing anterior approach to the hip joint. Different mechanisms of injury during surgery should be considered especially during minimally invasive total hip replacement, such as section of the gluteal or the femoral branch where it crosses the anterior margin of the TFL or stretching of the femoral branch due to retractors positioned into the intermuscular space between sartorius and TFL. According to the map of “danger zones” reported, the author policy consists of positioning the skin incision as lateral and distal to the ASIS as possible.
At birth, clinical classifications are the only available tools for evaluating the severity of congenital clubfoot. Ultrasound provides an assessment of the anatomical abnormalities. The objective of ...this study was to assess correlations between physical and ultrasound findings at birth.
Physical and ultrasonography provide different findings in congenital clubfoot and should therefore be used in conjunction.
One hundred and forty-five clubfeet in 108 patients born between 2006 and 2010 were included in a retrospective study. Clubfoot severity was classified using two methods, the modified Dimeglio classification based on physical findings and an ultrasound score based on the talo-navicular angle (TNA) and metaphyso-talo-calcaneal angle (MTCA). Each of these two methods distinguished three severity grades. Agreement between the two methods was assessed by computing the ▪ coefficient.
The results confirmed the hypothesis by showing low agreement between the clinical and ultrasound classifications. The severity grades were identical with the two methods for only 83/145 (57%) feet. The ▪ coefficient was 0.086.
The two ultrasound views used to measure the TNA and MTCA, respectively, added an assessment of the three main deformities that characterise congenital clubfoot (equinus, adduction of the forefoot, and adduction of the calcaneo-pedal unit). Ultrasonography complements the physical examination at birth. In the future, using both physical examination and ultrasound scanning to monitor babies with clubfoot may allow early treatment adjustments aimed at optimising the outcome.
IV, retrospective observational study.
Background. Post-partum ovarian vein thrombosis is often overlooked or mistaken for other complications such as endometritis. Color Doppler ultrasonography is a very good diagnostic method when ...properly indicated and correctly interpreted according to clinical data.
Methods. This study reports ten cases that were retrospectively studied, during which color Doppler ultrasonography was used. The clinical signs and the results are reviewed.
Results. The lesions were clearly visualized in eight of the ten cases; one of the two failures resulted from a methodological fault (uninterpretable result); the other one was due to the lack of experience of the operator and nonrecognition of the clinical signs. Thrombosis appears as a hypoechogenic and tubular image. This type of examination is particularly indicated in the presence of certain clinical signs that were observed in our cases: fever and iliac pain are the main precursor signs, often associated with abdominal meteorism and slow digestive transit; provoked cul-de-sac pain during vaginal probing was the only constant sign, sometimes associated with painful swelling.
Background
The superficial branch of the radial nerve (SBRN) is potentially at risk during thumb carpometacarpal (TCM) or thumb metacarpophalangeal (TMP) joint arthroscopy. The aim of this anatomical ...study was to describe the different branching patterns of the SBRN and to optimize positioning of portals during TCM and TMP arthroscopy.
Methods
The SBRN was dissected in 30 forearms. Three branches of the nerve (SR1, SR2, and SR3) were recorded and distances between SBRN branches and portals used for carpometacarpal (TCM) and metacarpophalangeal (TMP) joints of the thumb arthroscopy were measured. Three main portals were used for TCM joint arthroscopy. These portals were an ulnar portal (1-U), a radial portal (1-R), and an accessory portal (D-2). A radial metacarpophalangeal (MCP-rad) and an ulnar metacarpophalangeal (MCP-uln) portal were used for TMP joint arthroscopy.
Results
In 24 cases (80%), the 1-R portal was inserted radially (volar) to SR3 at a mean distance of 4.8 mm (0–8). In the remaining six cases (20%) when 1-R portal was inserted ulnar (dorsal) to SR3, the distance was less than 2 mm in all cases. SR3 was always far from the 1-U portal at a mean 13 mm (7–22). The D-2 portal was always close to SR2-D1 at a mean distance of 1.7 mm (0–6). The distance from SR2-D2 and D-2 portal was also inferior by 5 mm. At the level of the metacarphalangeal joint of the thumb, the MCP-rad portal was always situated dorsally and very close to SR3, at a mean distance of 1 mm (0–5). The MCP-uln portal was also situated dorsal to SR2-D1 at a mean distance of 3.7 mm (1.5–6.5).
Conclusion
The results of this anatomical study confirm actual reported findings about the SR2 and SR3 branches. These two branches of the SBRN are the most at risk of injury during TCM and TMP joint arthroscopy. According to our measurements, the 1-U portal is a safer portal than 1-R and D-2 portal for TCM arthroscopy and should be preferred for surgery necessitating only one portal. Concerning TMP arthroscopy, the SBRN appears less at risk of injury when using a MCP-uln portal and safer than MCP-rad which is at risk at less than 5 mm from the extensor pollicis longus tendon.
Congenital vertical talus is a rare condition. In newborns, the diagnosis is evident in severe forms, but it can be difficult to confirm in mild ones. Non-ossified tarsal navicular cannot be ...visualized on standard roentgenograms until it is ossified. This work demonstrates that ultrasound is helpful in the early diagnosis of congenital vertical talus and in the evaluation of the therapeutic concept and effects.
To provide an overview of non-specific modifications on whole-body post-mortem computed tomography (PMCT) images of infants and children.
69 infants and children underwent a whole-body PMCT scan at ...our institution following sudden unexpected death. Two paediatric radiologists reviewed the PMCT images, specifically focusing on non-specific postmortem modifications unrelated to the presumed cause of death.
Iatrogenic post-mortem modifications included focal infiltration of the legs (n=15) and hemopericardium (n=2). Vascular postmortem modifications included hypostasis (density in the posterior sagittal sinus was correlated with density in the dependent portion of the heart (p<0.001)), portal vein thrombosis (n=56, 75.3%), hyperattenuating aortic wall and reduced abdominal aortic diameter (n=69, 100%). Intravascular gas was detected in 40 subjects (57.9%). Ligamentum arteriosum calcification was seen in 42 children and was not correlated with age (p=0.68). Umbilical artery calcification was found in 30 children and was correlated with age (p<0.005). Gaseous distension of the stomach (n=45, 65.2%) and bowels (n=44, 63.7%) was a frequent finding. Mean liver density was 49.6±7.5HU and mean spleen density was 43.2±5.9HU. Ground-glass opacity was observed in 63 cases (91.3%) and mild bilateral consolidation in 16 cases (23.1%).
Non-specific post-mortem signs are rare and new to clinical paediatric radiologists. They should be aware of these signs when interpreting whole-body PMCT images in cases of sudden unexpected death in infancy or childhood in order to avoid pitfalls that may have a critical impact.
•Clinical paediatric radiologists should be aware of non-specific post-mortem signs.•Some non-specific post-mortem modifications in children are the same as in adults.•Whole-body PMCT has paediatric specificities.
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