Intracranial empyema complicating sinusitis in childhood: Epidemiology, imaging findings and outcome.

BACKGROUND: To describe clinical presentations of intracranial sinusitis complications in childhood, their pitfalls and imaging findings. MATERIEL AND METHODS: This retrospective IRB-approved single-center study included infants diagnosed with sinusitis and empyema and/or other intracranial complications who underwent imaging between September 2008 and September 2019. Three radiologists individually reviewed clinical charts and imaging findings, including sinusitis complications and at-risk anatomical variations. RESULTS: 21 children (76% males and 24% females, mean age 13±3.1 years) with imaging pansinusitis were included. Headache (95%) and fever (90%) were the main clinical nonspecific signs. Ten (48%) children presented an extradural empyema, nine (43%) children had a subdural empyema and two (10%) children had both. Frontal location sinusitis was the most common (76%). In MRI, all empyema presented as a hypo intensity on pre-contrast T1-WI, a hyperintensity on T2-WI, a reduced apparent diffusion coefficient (ADC) on diffusion weighted imaging (DWI) and a peripheral contrast enhancement on post-contrast T1-WI. CT or MRI revealed intracranial complications such as a collection size increase (52%), a midline shift (62%), intraparenchymal abscesses (24%), a cerebral venous thrombosis (29%), an intracranial pressure increase (29%), cerebral ischemia (43%) and Pott's Puffy Tumor (10%). Imaging highlighted sinus anatomical abnormalities in 52% of cases. All children were treated with sinus drainage and/or neurosurgery. Long-term follow-up was favorable in 14 cases (67%). CONCLUSION: Complications of sinusitis are life threatening in the studied population. Empyema and cerebral complications may be misleading. Brain contrast-enhanced CT covering sinuses and orbits, is mainly the first examination done but MRI is mandatory.

Magnetic resonance imaging diagnosis of subependymal giant cell astrocytomas in follow-up of children with tuberous sclerosis complex: should we always use contrast enhancement?

BACKGROUND: Subependymal giant cell astrocytomas (SEGAs) arise in 10-26% of tuberous sclerosis complex (TSC) patients. SEGAs cause obstructive hydrocephalus and increase morbi-mortality. It is recommended that TSC patients be followed with contrast enhanced magnetic resonance imaging (CE-MRI), but repetitive use of gadolinium-based contrast-agents (GBCAs) may cause organ deposits. OBJECTIVE: To compare the diagnostic performances of non-CE- and CE-MRI to differentiate SEGAs from subependymal nodules in TSC patients during follow-up. MATERIALS AND METHODS: Thirty-five TSC patients (median age: 2.4 years) were enrolled in this retrospective single-center study from September 2007 to January 2019. Inclusion criteria were a certain diagnosis of TSC and at least three follow-up brain MRIs with GBCA injection. Two consecutive MRI scans per patient were selected and anonymized. Three radiologists performed a blinded review of non-enhanced and enhanced MRI sequences during different sessions. The diagnostic performances were compared (sensitivity, specificity, positive/negative predictive values, accuracy, inter/intra-observer agreements). RESULTS: The accuracies for detecting SEGAs were good and similar between the non-enhanced and enhanced MRI sequences. The sensitivity and specificity of non-CE-MRI to diagnose SEGA ranged from 75% to 100% and from 94% to 100%, respectively. The differences in numbers of false-positive and false-negative patients between non-CE- and CE-MRI never exceeded one case. Nodules size >10 mm, location near the Monro foramen, hydrocephalus and modifications between two consecutive MRI scans were significantly associated with the diagnosis of SEGA for the three readers (all P-values <0.05). Inter- and intra-observer agreements were also excellent for non-enhanced and enhanced MRI sequences (kappa=0.85-1 and 0.81-0.93, respectively). CONCLUSION: The performances of non-enhanced and enhanced MRI sequences are comparable for detecting SEGAs, questioning the need for systematic GBCA injections for TSC patients.

Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA.

Cutis laxa is a heterogeneous group of diseases, characterized by abundant and wrinkled skin and a variable degree of intellectual disability. Cutis laxa, autosomal recessive, type IIIA and autosomal dominant 3 syndromes are caused by autosomal recessive or de novo pathogenic variants in ALDH18A1. Autosomal recessive variants are known to lead to the most severe neurological phenotype, and very few patients have been described.We describe a 13-month-old patient with cutis laxa, autosomal recessive, type IIIA, with an extremely severe phenotype, including novel neurological findings. This description enlarges the neurological spectrum associated to cutis laxa, autosomal recessive, type IIIA, and provides an additional description of this syndrome.

Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome.

BACKGROUND: The molecular anomalies causing moyamoya disease (MMD) and moyamoya syndromes (MMS) are unknown in most patients. OBJECTIVE: This study aimed to identify de novo candidate copy number variants (CNVs) in patients with moyamoya. METHODS: Rare de novo CNVs screening was performed in 13 moyamoya angiopathy trios using whole exome sequencing (WES) reads depth data and whole genome high density SNP array data. WES and SNP array data from an additional cohort of 115 unrelated moyamoya probands were used to search for recurrence of these rare de novo CNVs. RESULTS: Two de novo CNVs were identified in two unrelated probands by both methods and confirmed by qPCR. One of these CNVs, located on Xq28, was detected in two additional families. This interstitial Xq28 CNV gain is absent from curated gold standard database of control genomic variants and gnomAD databases. The critical region contains five genes, including MAMLD1, a major NOTCH coactivator. Typical MMD was observed in the two families with a duplication, whereas in the triplicated patients of the third family, a novel MMS associating moyamoya and various systemic venous anomalies was evidenced. CONCLUSION: The recurrence of this novel Xq28 CNV, its de novo occurrence in one patient and its familial segregation with the affected phenotype in two additional families strongly suggest that it is pathogenic. In addition to genetic counselling application, its association with pulmonary hypertension is of major importance for clinical care. These data also provide new insights into the genomic architecture of this emblematic, non-atherosclerotic, large vessel disease.

Correction to: Diagnostic performance of an unenhanced MRI exam for tumor follow-up of the optic pathway gliomas in children.

In the article "Diagnostic performance of an unenhanced MRI exam for tumor follow-up of the optic pathway gliomas in children", Table 2 data were not presented correctly, with results placed beneath an incorrect heading. Confidence interval also added. The original article has been corrected.

Diagnostic performance of an unenhanced MRI exam for tumor follow-up of the optic pathway gliomas in children.

PURPOSE: Contrast-enhanced MRI (MRI + C) is considered as mandatory for brain tumors follow-up, but gadolinium brain depositions in relation with repeated injections have been reported. The aim of our work was to evaluate the diagnostic performance of an unenhanced MRI examination for the follow-up of optic pathway gliomas (OPG) in children. METHODS: Seventeen patients (with/without NF1) were selected from 2001 to 2017, with at least 5 MRI + C brain follow-up examinations. Privacy and data protection rights were addressed by the data protection officer (DPO) and the study was in accordance with the local ethical rules. Twenty-five cases of tumor progression and 25 cases of tumor stability mentioned in the conclusion of radiological reports (defined as gold standard) were isolated. Those exams were anonymized and independently reviewed by two radiologists, who analyzed both quantitative (such as tumor volume variation) and qualitative criteria (such as ventricular dilatation) on unenhanced images. Sensitivity, specificity, positive/negative predictive values (PPV, NPV), and inter/intra-observer agreement were calculated. RESULTS: The mean age of patients was 5.4 ± 3.4 years and mean follow-up length 6.7 years. The mean number of MRI + C was 13.5 (SD 7.2). The sensitivity of unenhanced MRI for tumor follow-up was 84-88% (95% CI 63.9-97.5). The specificity was 91.3-100% (95% CI 72-100). The PPV was 91.7% for reader 1 and 100% for reader 2. The NVP was 87.5% for reader 1 and 85.2% for reader 2. There was an excellent inter-observer agreement regarding tumor progression: kappa coefficient of 0.87 (p < 0.001). Inter/intra-variability for percentage of tumor volume variation between two exams were good (correlation coefficients of 0.97 and 0.94). CONCLUSION: Tumor volume variation is in most cases sufficient to assess OPG progression. Systematic MRI + C could be questionable.

Childhood idiopathic spinal cord infarction: Description of 7 cases and review of the literature.

OBJECTIVES: To describe the clinical course, neuroimaging findings and functional outcome of idiopathic spinal cord infarction (SCI) in adolescents. METHODS: Retrospective and descriptive analyses of seven patients with idiopathic SCI and 50 additional cases from the literature were included. Data collected concerned clinical presentation, MRI findings, initial diagnosis, treatments and functional outcome at the last medical visit. RESULTS: Mean age at presentation was 13.2years (range 13-15). All patients presented a sudden and painful acute myelopathy with <24h time to maximal symptoms manifestation. A suspected trigger related to a minor effort was reported in 3/7 cases. Six patients presented with paraplegia, one with paraparesis. All had bladder dysfunction needing catheterization. Three patients had an initial misdiagnosis. Initial MRI was considered as normal in 2 cases. In the 5 other cases, T2-weighted-MR images showed hyperintensity within the thoracolumbar spinal cord, affecting mostly the anterior spinal artery territory. Evidence for associated spinal growth dystrophy were present in 6/7 cases. Mean follow-up time was 27.4months (range 3-46): 2 patients recovered autonomous ambulation, 4 patients regained walking ability with aids and one child (the shortest follow-up) remained wheelchair-dependent. A neurogenic bladder was still reported in 6/7 children at the last visit. Complementary analyses with literature cases were consistent with the findings obtained in our cohort. CONCLUSION: Idiopathic SCI typically occurs in adolescence with a rapid onset and painful acute myelopathy. The MRI shows a T2-hyperintense signal within the spinal cord and provides evidence for an ischemic mechanism. Etiology remains unclear in most cases even though some specific risk factors for this age must play an important role in the pathogenesis, such as mechanical constraints on the immature spine.

A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stain.

BACKGROUND: Upper facial port-wine stain (PWS) is a feature of Sturge-Weber syndrome (SWS). Recent studies suggest that the distribution of the PWS corresponds to genetic mosaicism rather than to trigeminal nerve impairment. OBJECTIVES: We sought to refine the cutaneous distribution of upper facial PWS at risk for SWS. METHODS: This was a prospective multicenter study of consecutive cases of upper facial PWS larger than 1 cm² located in the ophthalmic division of trigeminal nerve distribution in infants aged less than 1 year, seen in 8 French pediatric dermatology departments between 2006 and 2012. Clinical data, magnetic resonance imaging, and photographs were systematically collected and studied. PWS were classified into 6 distinct patterns. RESULTS: In all, 66 patients were included. Eleven presented with SWS (magnetic resonance imaging signs and seizure). Four additional infants had suspected SWS without neurologic manifestations. Hemifacial (odds ratio 7.7, P = .003) and median (odds ratio 17.08, P = .008) PWS patterns were found to be at high risk for SWS. A nonmedian linear pattern was not associated with SWS. LIMITATIONS: Small number of patients translated to limited power of the study. CONCLUSIONS: Specific PWS distribution patterns are associated with an increased risk of SWS. These PWS patterns conform to areas of somatic mosaicism. Terminology stipulating ophthalmic division of trigeminal nerve territory involvement in SWS should be abandoned.

Transcranial Doppler to screen on admission patients with mild to moderate traumatic brain injury.

BACKGROUND: Detecting patients at risk for secondary neurological deterioration (SND) after mild to moderate traumatic brain injury is challenging. OBJECTIVE: To assess the diagnostic accuracy of transcranial Doppler (TCD) on admission in screening these patients. METHODS: This prospective, observational cohort study enrolled 98 traumatic brain injury patients with an initial Glasgow Coma Scale score of 9 to 15 whose initial computed tomography (CT) scan showed either absent or mild lesions according to the Trauma Coma Data Bank (TCDB) classification, ie, TCDB I and TCDB II, respectively. TCD measurements of the 2 middle cerebral arteries were obtained on admission under stable conditions in all patients. Neurological outcome was reassessed on day 7. RESULTS: Of the 98 patients, 21 showed SND, ie, a decrease of ≥ 2 points from the initial Glasgow Coma Scale or requiring any treatment for neurological deterioration. Diastolic cerebral blood flow velocities and pulsatility index measurements were different between patients with SND and patients with no SND. Using receiver-operating characteristic analysis, we found the best threshold limits to be 25 cm/s (sensitivity, 92%; specificity, 76%; area under curve, 0.93) for diastolic cerebral blood flow velocity and 1.25 (sensitivity, 90%; specificity, 91%; area under curve, 0.95) for pulsatility index. According to a recursive-partitioning analysis, TCDB classification and TCD measurements were the most discriminative among variables to detect patients at risk for SND. CONCLUSION: In patients with no severe brain lesions on CT after mild to moderate traumatic brain injury, TCD on admission, in complement with brain CT scan, could accurately screen patients at risk for SND.

Perfusion CT to quantify the cerebral vasospasm following subarachnoid hemorrhage.

BACKGROUND AND PURPOSE: After subarachnoid hemorrhage (SAH), vasospasm is frequent and increases the risk of stroke and poor clinical outcome. The purpose of this study was to identify the best perfusion parameters in perfusion-CT (PCT) able to predict vasospasm diagnosed by angiography after SAH. METHODS: Seventy-six patients with SAH were investigated by PCT and cerebral angiography. Using regions of interest (ROI) on parametric maps of mean transit time (MTT), time to peak (TTP), cerebral blood volume (CBV) and cerebral blood flow (CBF), PCT data were compared to an arteriographic score in two categories (severe vasospasm: ≥ 50% and non-severe vasospasm: <50%) for each artery. Best PCT predictors of the arteriographic score were tested using multiparametric logistic regression. RESULTS: Among the 76 patients, PCT data were reliable in 65 patients. Twenty-seven patients had a severe vasospasm. Logistic regression showed that MTT was the best predictor of the arteriographic score. Using MTT, odds ratios having a vasospasm were superior to 3.1 and the occurrence of a vasospasm was accurately predicted in 78.5 to 100%, depending on the artery considered. However, no absolute value of the MTT could be identified to predict the occurrence of vasospasm. In fact, abnormal values of MTT ranged from 123 to 221% (m=146%) of the control values. DISCUSSION AND CONCLUSIONS: PCT may accurately identify severe vasospasm and might be used as a convenient noninvasive imaging modality to monitor patients with SAH. When detected, severe vasospasm could be confirmed and managed using angiography and endovascular treatment, appropriately.

An acute ischemic stroke secondary to sphenoid sinusitis.

Acute isolated sphenoid sinusitis is a relatively uncommon entity. Because its symptoms and clinical findings are nonspecific, it can be easily misdiagnosed. Left unrecognized and untreated, it can lead to several well-known and severe complications, including meningitis, cerebral abscess, cavernous sinus thrombosis, and epidural or subdural empyema. We report the case of a 28-year-old woman with acute sphenoid sinusitis complicated by ischemic stroke in the left caudate nucleus, lentiform nucleus, and posterior part of the internal capsule. The stroke was diagnosed on magnetic resonance imaging. Also, magnetic resonance angiography showed a narrowing of the internal carotid artery and a narrowing of the first part of the left anterior and middle cerebral arteries (A1 and M1 segments). The patient was treated with medical therapy, including antibiotics, and surgical drainage of the sphenoid sinus via an endoscopic approach. Her outcome was good, and she experienced minimal neurologic sequelae. We discuss the possible explanations for this rare complication.

Primary intracranial extra-axial and supratentorial atypical rhabdoid tumor.

An atypical teratoid/rhabdoid tumor of the central nervous system is an aggressive infantile embryonal neoplasm, usually presenting as an infratentorial and intraparenchymatous lesion. We report on magnetic resonance imaging findings of a 22-month-old boy with a biopsy-proven primary rhabdoid tumor, presenting as a single intracranial supratentorial extra-axial mass. Based on the patient's age and imaging features (perfusion, diffusion magnetic resonance imaging, and magnetic resonance spectroscopy), a diagnosis of atypical teratoid/rhabdoid tumor was more accurate than diagnoses of meningioma and primitive neuroectodermal tumor. Although this entity is relatively rare, it should be considered in the differential diagnosis of dural-based, space-occupying central nervous system lesions.

Intraoperative and postoperative gamma detection of somatostatin receptors in bone-invasive en plaque meningiomas.

OBJECTIVE: Scintigraphy with a radiolabeled somatostatin analog ((111)In-diethylenetriaminepenta-acetic acid octreotide) detects the somatostatin receptors that are found in vitro in all meningiomas. Previous studies have proved the benefit of radioimmunoguided surgery, with a hand-held gamma probe, for the assessment and removal of neuroendocrine tumors. We conducted a study to determine whether intraoperative radiodetection of somatostatin receptors is feasible and could increase the probability of complete meningioma resection, especially for bone-invasive en plaque meningiomas, which are difficult to control surgically. METHODS: Eighteen patients with en plaque sphenoid wing and cranial convexity meningiomas were studied by preoperative and postoperative somatostatin receptor scintigraphy. In 10 of them, intraoperative radiodetection with a hand-held gamma probe was performed 24 hours after the intravenous administration of (111)In-diethylenetriaminepenta-acetic acid octreotide. This procedure was combined with a computer-aided navigation system. RESULTS: All preoperative scintigrams were positive. Intraoperative gamma probe detection was achieved for the invaded bone, dura, and periorbit of sphenoid wing meningiomas. The average tumor/nontumor count ratio was 2:1, with a maximum of 12:1, thus allowing precise detection capable of defining the tumor margins. In three cases of sphenoid wing meningiomas, postoperative scintigrams were helpful for the determination of recurrences that magnetic resonance imaging failed to detect. CONCLUSION: These preliminary data show that intraoperative radiodetection of somatostatin receptors with a hand-held gamma probe is feasible and may be helpful to guide the surgical removal of bone-invasive en plaque meningiomas. Preoperative and postoperative scintigraphy may be useful for the management and follow-up of patients with these tumors.

Accuracy of bilateral inferior petrosal or cavernous sinuses sampling in predicting the lateralization of Cushing's disease pituitary microadenoma: influence of catheter position and anatomy of venous drainage.

Bilateral inferior petrosal sinus sampling (BIPSS) is the most reliable procedure for distinguishing Cushing's disease from ectopic ACTH secretion. However, it is less reliable at predicting the lateralization of the pituitary corticotroph microadenoma. We sought to determine whether this could be improved by taking into account the pattern of venous drainage and the precise location of the catheters. We retrospectively studied data from 86 patients who underwent BIPSS. Cushing's disease was predicted in 74 patients, of whom 69 underwent transsphenoidal surgery. Surgical cure was obtained in 65 patients, with identification of a corticotroph microadenoma in 58 cases. In 49 patients the location of the microadenoma predicted by the intersinus ACTH gradient could be compared with the pathologist's data. BIPSS accurately predicted the lateralization of the microadenoma in only 57% of these patients. Prediction was improved to 71% when both venograms and catheters were symmetric (35 patients). In this subgroup accuracy was 86% in patients with both catheters in the inferior petrosal sinuses compared with 50% in patients with both catheters in the cavernous sinuses (CS). Two transient sixth nerve palsies occurred during CS catheterization. Our data suggest that BIPSS results are much improved when venous drainage is symmetric. Catheterization of CS did not improve the results and was less safe.