Macrostructural Brain Abnormalities in Spinal Muscular Atrophy: A Case-Control Study.

Background And Objectives: Most individuals with spinal muscular atrophy (SMA) on disease-modifying therapies continue to have chronic motor impairment. Insights into brain involvement in SMA may open new pathways for adjunctive therapies to optimize outcomes. We aimed to characterize macrostructural brain abnormalities detected by MRI in individuals with SMA compared with peer controls.

Acute encephalopathy with biphasic seizures and late reduced diffusion with concurrent transverse myelitis.

We describe a patient with acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) with unique features, including concurrent transverse myelitis. A 2-year-old previously healthy girl had clinical findings consistent with AESD, occurring in association with influenza A infection. The posterior brain regions were most severely affected, resulting in cortical blindness.

Sex-Specific Cerebral Blood Flow Alterations in Youth Operated for Congenital Heart Disease.

Background Lower cerebral blood flow (CBF) has previously been documented preoperatively in neonates with congenital heart disease (CHD). However, it remains unclear if these CBF deficits persist over the life span of CHD survivors following heart surgery. When exploring this question, it is critical to consider the sex differences in CBF that emerge during adolescence.

Association of novel mutation in TRPV4 with familial nonsyndromic craniosynostosis with complete penetrance and variable expressivity.

Objective: The aim of this study was to characterize a novel pathogenic variant in the transient receptor potential vanilloid 4 (TRPV4) gene, causing familial nonsyndromic craniosynostosis (CS) with complete penetrance and variable expressivity.

Methods: Whole-exome sequencing was performed on germline DNA of a family with nonsyndromic CS to a mean depth coverage of 300× per sample, with greater than 98% of the targeted region covered at least 25×. In this study, the authors detected a novel variant, c.

Subtle magnetic resonance imaging differences in tegmental pilocytic astrocytomas as a caution against attempting gross-total resection: illustrative cases.

Background: Although surgery within the tegmentum of the midbrain is challenging, resection of tegmental pilocytic astrocytomas (PAs) is a standard treatment because this has been shown to outperform chemotherapy and radiotherapy in terms of long-term tumor control. Gross total resection (GTR) assisted by intraoperative neuroelectrophysiological monitoring can be achieved with a reasonable risk-to-benefit ratio, especially for well-circumscribed tumors, but careful scrutiny of magnetic resonance imaging (MRI) is critical to surgical decision making. The authors present two cases of tegmental PAs, which appeared grossly similar on MRI and were operated on via the same surgical approach using the same intraoperative adjuncts.

Cerebral white matter abnormalities associated with chromosome 18q duplication.

Background: Chromosome 18q duplications are associated with a range of phenotypes often similar to complete trisomy 18, variably including poor growth, feeding difficulties, congenital malformations and dysmorphic facial features. Although 18q duplication patients may have seizures and developmental impairment, brain MRI typically shows only variable degrees of cerebral atrophy.

Patient: We present a boy with a 52.

Altered myelination in youth born with congenital heart disease.

Brain injury and dysmaturation is common in fetuses and neonates with congenital heart disease (CHD) and is hypothesized to result in persistent myelination deficits. This study aimed to quantify and compare myelin content in vivo between youth born with CHD and healthy controls. Youth aged 16 to 24 years born with CHD and healthy age- and sex-matched controls underwent brain magnetic resonance imaging including multicomponent driven equilibrium single pulse observation of T and T (mcDESPOT).

Catheter-guided multilevel epidural blood patches in an adolescent boy.

Background: There is increasing evidence for the use of multilevel epidural catheter-guided blood patches to treat spontaneous cerebrospinal fluid leaks in adults. Yet, there are scarce data for their use in children. Furthermore, higher level epidural blood patches are uncommon in both adult and pediatric populations.

The spectrum of indomethacin-responsive headaches in children and adolescents.

Background: Headaches with marked, specific response to indomethacin occur in children, but the phenotypic spectrum of this phenomenon has not been well-studied.

Methods: We reviewed pediatric patients with headache showing ≥80% improvement with indomethacin, from seven academic medical centers.

Results: We included 32 pediatric patients (16 females).

Radiomics and machine learning for the diagnosis of pediatric cervical non-tuberculous mycobacterial lymphadenitis.

Non-tuberculous mycobacterial (NTM) infection is an emerging infectious entity that often presents as lymphadenitis in the pediatric age group. Current practice involves invasive testing and excisional biopsy to diagnose NTM lymphadenitis. In this study, we performed a retrospective analysis of 249 lymph nodes selected from 143 CT scans of pediatric patients presenting with lymphadenopathy at the Montreal Children's Hospital between 2005 and 2018.

Postoperative pain following minimally invasive repair of pectus excavatum: A descriptive study.

Background: Minimally Invasive Repair of Pectus Excavatum (MIRPE) is associated with significant postoperative pain. The objective of our study was to characterize the severity and duration of this pain, and to investigate possible associations with pectus severity.

Methods: We conducted a retrospective cohort study of pediatric patients who underwent MIRPE from January 2014 to April 2018.

The utility of echocardiography and pulmonary function testing in the preoperative evaluation of pectus excavatum.

Purpose: Echocardiography (ECHO) and pulmonary function testing (PFT) are routinely performed during the preoperative evaluation of pectus excavatum (PE). We hypothesized that these investigations may be performed selectively based on patient symptoms and pectus severity.

Methods: A retrospective review of all PE patients who underwent a Nuss procedure during a 15-year period (2004-2018) was conducted.

Distinctive Neuroimaging Pattern in Term Newborns With Neonatal Placental Encephalopathy: A Case Series.

Background: Identifying antepartum versus intrapartum timing and the cause of neonatal encephalopathy (NE) often remains elusive owing to our limited understanding of the underlying pathophysiological processes and lack of appropriate biomarkers.

Objectives: This retrospective observational study describes a case series of term newborns with NE who displayed a recognizable magnetic resonance imaging pattern of immediately postnatal brain abnormalities that rapidly evolved toward cavitation. Our aim is to (1) report this neuroimaging pattern, (2) look for placental determinants, and (3) depict the outcome.

Hirayama Disease in a Patient with a History of Late-Onset Symptomatic Vein of Galen Aneurysmal Malformation.

Introduction: The purpose of this report is to present a rare case of Hirayama disease (HD) in a patient with a history of late-onset symptomatic vein of Galen aneurysmal malformation (VGAM). This report may provide new insights into the pathophysiology of HD, a rare disorder consisting of insidious onset of unilateral weakness and atrophy of the forearm and intrinsic hand muscles. These symptoms are believed to result from cervical myelopathy affecting the anterior horn cells due to abnormal compressive forces on the spinal cord from adjacent anatomical structures (i.

Clinical utility of methionine restriction in adenosine kinase deficiency.

Unlabelled: Adenosine kinase (ADK) deficiency is a rare autosomal recessive inborn error of metabolism involving the methionine and purine metabolic pathways. Prior reports show that most patients present in infancy with jaundice, hypotonia, developmental delay, and mild dysmorphic features. Characteristic biochemical findings included hypoglycemic hyperinsulinism, cholestasis, elevated liver functions, methionine, S-adenosylhomocysteine, and S-adenosylmethionine, with normal or mildly elevated homocysteine level.

Bilateral Parietal Skull Fractures in Infants Attributable to Accidental Falls.

Introduction: Multiple skull fractures, including bilateral parietal skull fractures (BPSFs) in infants are considered to be suspicious for abusive head trauma (AHT). The aim of this report is to describe a series of BPSF cases in infants which occurred due to accidental falls.

Methods: We searched our neuroradiology database for BPSF in infants (<1 year old) diagnosed between 2006 and 2019; we reviewed initial presentation, mechanisms of injury, clinical course, head imaging, skeletal survey X-rays, ophthalmology, social work and child abuse physicians (CAP) assessments, and long-term follow-up.

MNI SISCOM: an Open-Source Tool for Computing Subtraction Ictal Single-Photon Emission CT Coregistered to MRI.

Subtraction ictal single-photon emission computed tomography (SPECT) coregistered to MRI (SISCOM) is a well-established technique for quantitative analysis of ictal vs interictal SPECT images that can contribute to the identification of the seizure onset zone in patients with drug-resistant epilepsy. However, there is presently a lack of user-friendly free and open-source software to compute SISCOM results from raw SPECT and MRI images. We aimed to develop a simple graphical desktop application for computing SISCOM.

Isolated bilateral congenital lacrimal gland agenesis-a case series.

We report 2 pediatric cases of isolated bilateral congenital lacrimal gland agenesis (CLGA). Patient 1 (1 year of age) and patient 2 (2 years of age) presented with symptoms of alacrimia and were diagnosed with bilateral isolated CLGA based on magnetic resonance imaging. Both patients were otherwise healthy, with no systemic associations.