Differentiating Genetic Forms of Pontocerebellar Hypoplasia From Acquired Lesions Resembling Pontocerebellar Hypoplasia: Clinical, Neurodevelopmental, and Imaging Insight From 19 Extremely Premature Patients.

It is well established that extreme prematurity can be associated with cerebellar lesions potentially affecting the neurologic prognosis. One of the commonly observed lesions in these cases is pontocerebellar hypoplasia resulting from prematurity, which can pose challenges in distinguishing it from genetically caused pontocerebellar hypoplasia. This confusion leads to unacceptable and prolonged diagnostic ambiguity for families as well as difficulties in genetic counseling.

Efficacy of lanreotide 120 mg primary therapy on tumour shrinkage and ophthalmologic symptoms in acromegaly after 1 month.

Introduction: Few studies have attempted to evaluate the early efficacy of first-generation somatostatin analogues in somatotroph macroadenomas.

Objective: To investigate the short-term efficacy of primary therapy with lanreotide 120 mg at 1 and 3 months on tumour shrinkage and ophthalmologic symptoms in newly diagnosed patients with acromegaly.

Design And Patients: This single-centre retrospective study included 21 patients with de novo acromegaly resulting from pituitary macroadenoma, with optic chiasm compression (Grade ≤ 2) and/or cavernous sinus invasion, treated with a monthly injection of lanreotide 120 mg.

Gamma Knife surgery for recurrent or persistent Cushing disease: long-term results and evaluation of biological effective dose in a series of 26 patients.

Introduction: Here we report long-term results after stereotactic radiosurgery (SRS) with Gamma Knife (GKRS) for Cushing disease. We further evaluated the potential role of the biological effective dose (BED) in the cure of this disease.

Methods: A retrospective review of a prospectively collected database (n = 26) was undertaken at Lille University Hospital, France.

Gamma Knife radiosurgery for acromegaly: Evaluating the role of the biological effective dose associated with endocrine remission in a series of 42 consecutive cases.

Introduction: Stereotactic radiosurgery (SRS) is a valuable treatment option for persistent and/or recurrent acromegaly secondary to growth hormone (GH) secreting pituitary adenoma (PA). Here, we assess the role of biological effective dose (BED) received by PA treated with SRS in relation with endocrine remission.

Methods: Forty-two patients (minimum 6 months follow-up) were included.

Biometry of the Cerebellar Vermis and Brain Stem in Children: MR Imaging Reference Data from Measurements in 718 Children.

Background And Purpose: Objective and quantitative data to define cerebellar vermis and/or brain stem hypoplasia in children are lacking. Our aim was to provide MR imaging biometric references for the cerebellar vermis and brain stem from a large cohort of children with normal cerebellums.

Materials And Methods: The MR imaging data were retrospectively selected from our hospital data base from January 1, 2014, to December 31, 2017.

Postmortem fetal magnetic resonance imaging: where do we stand?

Unlabelled: Postmortem fetal magnetic resonance imaging (PMFMRI) is increasingly used thanks to its good overall concordance with histology paralleling the rising incidence of parental refusal of autopsy. The technique could become a routine clinical examination but it needs to be standardized and conducted by trained radiologists. Such radiologists should be aware of not only the (congenital and acquired) anomalies that can involve the fetus, but also of the "physiological" postmortem changes.

Lesions in deep gray nuclei after severe traumatic brain injury predict neurologic outcome.

Purpose: This study evaluates the correlation between injuries to deep gray matter nuclei, as quantitated by lesions in these nuclei on MR T2 Fast Spin Echo (T2 FSE) images, with 6-month neurological outcome after severe traumatic brain injury (TBI).

Materials And Methods: Ninety-five patients (80 males, mean age = 36.7y) with severe TBI were prospectively enrolled.

Radiological and clinical features of cerebral sinovenous thrombosis in newborns and older children.

Background And Purpose: Cerebral sinovenous thrombosis (CSVT) represents an increasingly recognized cause of pediatric stroke. Our purpose was to assess gender and age differences in the etiology, clinical presentation, and imaging features of CSVT in neonates and older children.

Methods: Subjects aged newborn to 18 years diagnosed with CSVT at the Lille university hospital between 2011 and 2014 were included.

Creatine biosynthesis and transport in health and disease.

Creatine is physiologically provided equally by diet and by endogenous synthesis from arginine and glycine with successive involvements of arginine glycine amidinotransferase [AGAT] and guanidinoacetate methyl transferase [GAMT]. A specific plasma membrane transporter, creatine transporter [CRTR] (SLC6A8), further enables cells to incorporate creatine and through uptake of its precursor, guanidinoacetate, also directly contributes to creatine biosynthesis. Breakthrough in the role of creatine has arisen from studies on creatine deficiency disorders.

Chédiak-Higashi syndrome: brain MRI and MR spectroscopy manifestations.

Chédiak-Higashi syndrome is a rare inherited metabolic disorder characterized by partial oculocutaneous albinism, immunodeficiency, and neurological dysfunction. We present the brain magnetic resonance imaging (MRI) and MR spectroscopy (MRS) findings obtained during the accelerated phase of the disorder in an 8-year-old. The brain MRI manifestations at recurrences 15 months and 24 months later are reported as well.

Update on neuroimaging phenotypes of mid-hindbrain malformations.

Purpose: Neuroimaging techniques including structural magnetic resonance imaging (MRI) and functional positron emission tomography (PET) are useful in categorizing various midbrain-hindbrain (MHB) malformations, both in allowing diagnosis and in helping to understand the developmental processes that were disturbed. Brain imaging phenotypes of numerous malformations are characteristic features that help in guiding the genetic testing in case of direct neuroimaging-genotype correlation or, at least, to differentiate among MHB malformations entities. The present review aims to provide the reader with an update of the use of neuroimaging applications in the fine analysis of MHB malformations, using a comprehensive, recently proposed developmental and genetic classification.

Skeletal involvement in Langerhans cell histiocytosis.

Unlabelled: Langerhans cell histiocytosis (LCH) represents a disorder characterised by an abnormal accumulation of histiocytes in miscellaneous tissues. The bone is commonly affected, especially the flat bones, the spine and the long bones. Some lesions in children such as a "vertebra plana" or a solitary lytic lesion of the skull may be suggestive for LCH, whereas others can be confused with a malignant tumour or osteomyelitis.

Assessment of white matter injury and outcome in severe brain trauma: a prospective multicenter cohort.

Background: Existing methods to predict recovery after severe traumatic brain injury lack accuracy. The aim of this study is to determine the prognostic value of quantitative diffusion tensor imaging (DTI).

Methods: In a multicenter study, the authors prospectively enrolled 105 patients who remained comatose at least 7 days after traumatic brain injury.

Neuropsychological evaluation and follow-up of children with cerebellar cortical dysplasia.

Aim: To describe neuropsychological disturbances and the developmental course associated with cerebellar cortical dysplasia (CCD).

Method: The neuroimaging findings from 10 children (five males, five females; aged 3-10 y) with CCD were reviewed and classified. These children all underwent clinical neurological examination and neuropsychological assessment (NPA) on admission, then were followed for an average of 6 years using the cognitive Wechsler Scale, Vineland Adaptive Behavior Scales, and Rey-Osterrieth Complex Figure/McCarthy Drawing subtests.

Brain regional glucose uptake changes in isolated cerebellar cortical dysplasia: qualitative assessment using coregistrated FDG-PET/MRI.

We aimed to assess brain regional glucose uptake (rGlcU) changes in children with isolated cerebellar cortical dysplasia (CCD) using 18-fluoro-deoxy-glucose positron emission tomography (FDG-PET). Six children aged 9 months to 11 years at the time of diagnosis, carrying isolated CCD (with no other associated posterior fossa or supratentorial malformation) underwent a brain FDG-PET and a subsequent 3DT1-weighted MRI for coregistration. The MRIs acquired previously at the time of diagnosis were reviewed to record the cerebellar dysplastic features and classify the patients as having minor, moderate, or severe CCD.

Diffusion tensor imaging and white matter lesions at the subacute stage in mild traumatic brain injury with persistent neurobehavioral impairment.

Mild traumatic brain injury (mTBI) can induce long-term behavioral and cognitive disorders. Although the exact origin of these mTBI-related disorders is not known, they may be the consequence of diffuse axonal injury (DAI). Here, we investigated whether MRI at the subacute stage can detect lesions that are associated with poor functional outcome in mTBI by using anatomical images (T(1) ) and diffusion tensor imaging (DTI).

Neonatal status epilepticus due to lamination disorder without significant cell death.

Background: Malformations of the cerebral cortex may be associated with severe epilepsy and status epilepticus. It has been shown that status epilepticus models induce excitotoxic cell death. In humans, very few data are available.

Natural history of traumatic meningeal bleeding in infants: semiquantitative analysis of serial CT scans in corroborated cases.

Background: The natural history of posttraumatic meningeal bleeding in infants is poorly documented, and the differences between inflicted head injury (IHI) and accidental trauma (AT) are debated. Autopsy findings have suggested that anoxia also plays a role in bleeding; however, these findings may not reflect what occurs in live trauma patients.

Purpose: We studied the natural history of traumatic meningeal bleeding in infants using serial computed tomography (CT) scans in corroborated IHI and AT.

Disappearance of a middle cerebral artery aneurysm associated with Moyamoya syndrome after revascularization in a child: case report.

Introduction: Pediatric Moyamoya disease is rarely associated with intracranial aneurysms. We report a case of a 7-year-old girl with an antecedent of persistent craniopharyngeal canal, who presented with a history of choreiform movements.

Materials And Methods: A Moyamoya disease was found with an unruptured left middle cerebral artery aneurysm on her first angiography.

TSH-secreting adenoma improved with cabergoline.

TSH-secreting adenomas are rare tumors, representing only 0.5 to 2.5% of pituitary adenomas.