PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect.

Defects in L-serine biosynthesis are a group of autosomal recessive diseases resulting in a wide phenotypic spectrum ranging from viable to lethal presentations and caused by variants in the three genes encoding the L-serine biosynthesis enzymes, PHGDH, PSAT1, and PSPH. Neu-Laxova syndrome (NLS) is the fetal form of this group, characterized by multiple congenital anomalies including severe intrauterine growth retardation, cutaneous lesions extending from ichthyosis to severe restrictive dermopathy with ectropion and eclabion, edema, microcephaly, central nervous system abnormalities, and flexion contractures. Here we report on two unrelated fetuses with an attenuated phenotype of NLS, that initially evoked Taybi-Linder syndrome.

Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.

Free oligosaccharides (fOSs) are soluble oligosaccharide species generated during N-glycosylation of proteins. Although little is known about fOS metabolism, the recent identification of NGLY1 deficiency, a congenital disorder of deglycosylation (CDDG) caused by loss of function of an enzyme involved in fOS metabolism, has elicited increased interest in fOS processing. The catabolism of fOSs has been linked to the activity of a specific cytosolic mannosidase, MAN2C1, which cleaves α1,2-, α1,3-, and α1,6-mannose residues.

PHACES Syndrome and Associated Anomalies: Risk Associated With Small and Large Facial Hemangiomas.

PHACES syndrome includes posterior fossa malformations, hemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities, and sternal defect with or without supraumbilical raphe. Usually, brain imaging is performed when facial hemangiomas are larger than 5 cm. Data on associated anomalies regardless of hemangioma size are sparse.

Multiparametric Analysis of Cerebral Development in Preterm Infants Using Magnetic Resonance Imaging.

Objectives: The severity of neurocognitive impairment increases with prematurity. However, its mechanisms remain poorly understood. Our aim was firstly to identify multiparametric magnetic resonance imaging (MRI) markers that differ according to the degree of prematurity, and secondly to evaluate the impact of clinical complications on these markers.

Whole-body MR imaging in suspected physical child abuse: comparison with skeletal survey and bone scintigraphy findings from the PEDIMA prospective multicentre study.

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.

Automated brain MRI metrics in the EPIRMEX cohort of preterm newborns: Correlation with the neurodevelopmental outcome at 2 years.

Purpose: The purpose of this study was to identify in the EPIRMEX cohort the correlations between MRI brain metrics, including diffuse excessive high signal intensities (DEHSI) obtained with an automated quantitative method and neurodevelopmental outcomes at 2 years.

Materials And Methods: A total of 390 very preterm infants (gestational age at birth≤32 weeks) who underwent brain MRI at term equivalent age at 1.5T (n=338) or 3T (n=52) were prospectively included.

Pneumosinus dilatans of the sphenoid and visual loss: when should the optic nerve be decompressed?

Pneumosinus dilatans of the sphenoid sinus is a rare disorder which can be responsible for visual impairment and blindness. We present the case of an adolescent female who experienced progressive decrease in right-eye vision over 2 years. CT scan of the head showed an extensive pneumatization of the sphenoid bone extending to the lesser wing of the sphenoid and to the anterior clinoid process on the right side.

ATP7A mutation with occipital horns and distal motor neuropathy: A continuum.

ATP7A-related copper transport disorders are classically separated in three pathologies according to their severity, all inherited in an X-linked recessive manner: Menkes disease (MD, OMIM #309400) which represent more than 90% of cases; occipital Horn Syndrome (OHS, OMIM #304150) and ATP7A-related distal motor neuropathy also named X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489) (Kennerson et al., 2010). Although there is no clear cut correlation between Cu and ceruloplasmin levels in ATP7A related disorders, these three entities probably represent a continuum partly depending on residual functional ATP7A protein (Møller, 2015).

Performance of diagnostic ultrasound to identify causes of hydramnios.

Introduction: We aimed to assess the diagnostic yield of ultrasonography in the identification of the etiology of hydramnios, and the added value of MRI or amniocentesis.

Methods: We conducted a single-center retrospective study including pregnancies with confirmed hydramnios (defined as deepest pocket ≥8 cm) between January 2013 and May 2017. Twin pregnancies, secondary hydramnios discovered after the diagnosis of a causal pathology, and pregnancies of unknown outcome were excluded.

Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) presenting as a prenatally heterotopic hamartoma.

Dysplastic gangliocytoma of the cerebellum (DGC), also called Lhermitte-Duclos disease, is a rare lesion of the posterior fossa consisting of a diffuse hypertrophy of the cerebellar cortex. DGC frequently presents in young adults and rarely in childhood. Only 3 cases have been previously described in newborns.

Regional brain development analysis through registration using anisotropic similarity, a constrained affine transformation.

We propose a novel method to quantify brain growth in 3 arbitrary orthogonal directions of the brain or its sub-regions through linear registration. This is achieved by introducing a 9 degrees of freedom (dof) transformation called anisotropic similarity which is an affine transformation with constrained scaling directions along arbitrarily chosen orthogonal vectors. This gives the opportunity to extract scaling factors describing brain growth along those directions by registering a database of subjects onto a common reference.

Ruptured intracranial arachnoid cysts in the subdural space: evaluation of subduro-peritoneal shunts in a pediatric population.

Purpose: Rupture of arachnoid cysts (AC) in the subdural space after trauma may cause a subacute/chronic subdural hematoma or a hygroma. Treatment of this complication still remains controversial, and no consensual strategy is to date clearly proposed. In this study, the authors evaluated the clinical and radiological evolution of patients treated by a subduro-peritoneal shunt for symptomatic subdural collections complicating ruptured AC.

Changes in brain perfusion in successive arterial spin labeling MRI scans in neonates with hypoxic-ischemic encephalopathy.

The primary objective of this study was to evaluate changes in cerebral blood flow (CBF) using arterial spin labeling MRI between day 4 of life (DOL4) and day 11 of life (DOL11) in neonates with hypoxic-ischemic encephalopathy (HIE) treated with hypothermia. The secondary objectives were to compare CBF values between the different regions of interest (ROIs) and between infants with ischemic lesions on MRI and infants with normal MRI findings. We prospectively included all consecutive neonates with HIE admitted to the neonatal intensive care unit of our institution who were eligible for therapeutic hypothermia.

Idiopathic, heritable and veno-occlusive pulmonary arterial hypertension in childhood: computed tomography angiography features in the initial assessment of the disease.

Background: In children, idiopathic and heritable pulmonary arterial hypertension present echocardiographic and heart catheterization findings similar to findings in pulmonary veno-occlusive disease.

Objective: To provide a systematic analysis of CT angiography anomalies in children with idiopathic or heritable pulmonary arterial hypertension, or pulmonary veno-occlusive disease. We also sought to identify correlations between CT findings and patients' baseline characteristics.

A Preoperative Scoring System for Adnexal Mass in Children and Adolescents to Preserve Their Future Fertility.

Study Objective: To develop a predictive score for ovarian malignancy to avoid unnecessary adnexectomy in cases of adnexal mass in pediatric and adolescent girls.

Design: A population-based retrospective study on girls who underwent surgery for an ovarian mass with normal levels of human chorionic gonadotrophin and alpha fetoprotein between 1996 and 2016.

Setting: Rennes University Hospital, Rennes, France.

Fertility, Pregnancy, and Clinical Outcomes after Uterine Arteriovenous Malformation Management.

Study Objective: To evaluate fertility, pregnancy, and clinical outcomes after uterine arteriovenous malformation (UAVM) management.

Design: Single-center retrospective study (Canadian Task Force classification III).

Setting: One referral center.

Measurement of pediatric regional cerebral blood flow from 6 months to 15 years of age in a clinical population.

Objectives: To investigate changes in cerebral blood flow (CBF) in gray matter (GM) between 6 months and 15 years of age and to provide CBF values for the brain, GM, white matter (WM), hemispheres and lobes.

Methods: Between 2013 and 2016, we retrospectively included all clinical MRI examinations with arterial spin labeling (ASL). We excluded subjects with a condition potentially affecting brain perfusion.

Edema of the optic tract in patients with tumors of the sellar region: clinical and visual implications in the pediatric population.

OBJECTIVE Tumor-related edema of the optic tract (EOT) corresponds to a preferential posterior distribution of peritumoral edema along the white matter tract of the visual system. To date, the consequences of EOT have never been evaluated specifically in the pediatric population. In this study, the authors attempted to identify clinical and radiological features associated with the development of EOT and the specific influence of this edema on visual function.

Magnetic resonance imaging in children presenting migraine with aura: Association of hypoperfusion detected by arterial spin labelling and vasospasm on MR angiography findings.

Objective A child presenting with a first attack of migraine with aura usually undergoes magnetic resonance imaging (MRI) to rule out stroke. The purpose of this study was to report vascular and brain perfusion findings in children suffering from migraine with aura on time-of-flight MR angiography (TOF-MRA) and MR perfusion imaging using arterial spin labelling (ASL). Methods We retrospectively included all children who had undergone an emergency MRI examination with ASL and TOF-MRA sequences for acute neurological deficit and were given a final diagnosis of migraine with aura.

Variability in Imaging Practices and Comparative Cumulative Effective Dose for Neuroblastoma and Nephroblastoma Patients at 6 Pediatric Oncology Centers.

The purpose of this study was to estimate the cumulative effective dose (CED) from diagnosis and posttherapy computed tomographic (CT) scans performed on children treated for neuroblastoma or nephroblastoma (Wilms tumor) and to examine the different imaging practices used in 6 regional pediatric oncology centers between January 2010 and December 2013. We analyzed retrospectively the CT scan acquisition data in children aged 10 years or younger at diagnosis. The use of nonionizing imaging modalities was reported.

Ultrasonography for the diagnosis of craniosynostosis.

Objectives: The aim of this study was to report our experience with ultrasonography in our routine practice for the diagnosis of cranial deformity in infants.

Methods: We conducted a single-institution retrospective study of infants referred to our department because of skull deformity. We only included in this study infants having undergone both US and 3D-CT to ensure accurate comparisons.

Early MRI in neonatal hypoxic-ischaemic encephalopathy treated with hypothermia: Prognostic role at 2-year follow-up.

Unlabelled: The prognostic role of early MRI (≤ 6 days of life) is still uncertain in hypoxic-ischaemic encephalopathy (HIE) treated with hypothermia.

Objective: To compare the prognostic value of early (≤ 6 days) and late MRIs (≥ 7 days) in predicting adverse outcome at 2 years old in asphyxiated term neonates treated with hypothermia.

Methods: This retrospective study included all asphyxiated neonates eligible for hypothermia treatment between November 2009 and July 2012.