X-linked adrenoleukodystrophy (ALD) is a leukodystrophy characterized not only by progressive loss of myelin in the central nervous system due to dysmyelination, but also by acute, subacute, or chronic inflammatory demyelination. This results in the phenotypic variability of cerebral ALD (cerALD), which is independent of the genotype. In this manuscript, we report a fulminant presentation with fluctuating encephalopathy and visual loss in a patient with childhood onset cerALD. Brain MRI showed symmetric confluent occipito-temporal demyelination with severe disruption of the blood–brain barrier and prechiasmal optic neuropathy. The patient's cerebral spinal fluid (CSF) demonstrated an elevated IgG index, myelin basic proteins, and oligoclonal bands. Within 48 hours of receiving immunomodulating therapy, the patient's symptoms of psychomotor slowing, visual impairment, and areflexia partially resolved. High plasma C26:0 levels and high ratios of C24/22 and C26/22 were diagnostic of ALD. It has been shown that environmental factors play an important role in the inflammatory demyelination responsible for the severe phenotypes of cerALD.

Congenital lymphocytic choriomeningitis virus (LCMV) infection is a transient intrauterine viral infection with selective teratogenicity depending on the timing of the primary maternal infection. LCMV is cleared from the body of the fetus after the acute phase of illness and, in most cases, has lost its virulence at the time of birth. LCMV competes with extracellular matrix proteins for its tropism toward heavily glycosylated alpha-dystroglycan. In the first trimester, while tropism toward heart myoblasts is high, intrauterine infection (IUI) can lead to miscarriage or fetal demise. Later in pregnancy, LCMV becomes neurotropic with tropism toward retina and brain. Most often systemic symptoms are subtle or absent at the time of birth. The timing of the IUI determines the neuroteratogenic phenotypes of congenital LCMV infection. IUI that occurs early during gestation can lead to isolated cerebellar dysgenesis and hypoplasia. When IUI occurs during neural radial migration, echoencephalography shows defective cerebral opercularization, intracranial calcifications at the gray-white matter junction, enlarged extraaxial subarachnoid space, and cortical dysplasia. When IUI occurs after the completion of insular opercularization (late second trimester), echoencephalography shows extensive cystic periventricular leukomalacia with bi-occipital porencephaly and mild defects in gyrogenesis. A late gestation IUI induces aseptic LCMV meningitis with occlusion of the aqueduct of Sylvius, leading to congenital obstructive hydrocephalus. Congenital LCMV remains underdiagnosed as clinical manifestations are predominantly neurologic.As echoencephalography remains the preferred screening strategy for detecting neonatal central nervous system pathology, prior knowledge of echoencephalography of congenital LCMV may facilitate its recognition, prompting a serological evaluation.

Gratification disorder (GD) is a form of stereotyped posturing with mechanical pressure applied to the genitalia without manual manipulation and is generally considered benign. Here, we describe two patients who exhibited GD. Both were later diagnosed with Rett syndrome via genetic sequencing. In both patients, GD preceded the onset of the hallmark hand stereotypies of Rett syndrome. We therefore conclude that GD is not as benign as previously assumed and in fact can be an early sign of Rett syndrome. Further studies are needed to evaluate the prevalence of GD in Rett girls with the MECP2 genotype.

Schizencephaly is a rare type of neuronal migration disorder characterized by the presence of a cerebral hemispheric cleft that extends from lateral ventricles to the cortical surface of the brain. We report a rare case of prenatally diagnosed unilateral schizencephaly in a late preterm infant who manifested with rapidly progressive hydrocephalus with massive enlargement of posterior cerebrospinal fluid spaces with tonsillar herniation that was successfully treated with placement of a ventriculoperitoneal shunt.

Objectives The electrocardiogram (ECG) of patients with hypertrophic cardiomyopathy (HCM) ranges from normal to exhibiting evidence of ventricular hypertrophy, including pathologic Q waves and ST-T wave changes. Deep Q waves in the inferior and lateral leads are one of the classic ECG findings associated with HCM. The prevalence or frequency of this finding in pediatric HCM patients, however, is not well-established. Furthermore, other pediatric health conditions have also been associated with pathologic and non-pathologic Q waves and an awareness of those conditions is important to consider when Q waves are observed. The primary goal of this systematic review of the literature is to describe the prevalence of pathologic Q waves in the ECGs of pediatric patients with echocardiogram proven HCM. A secondary goal is to review other pediatric conditions that can present with pathologic and non-pathologic Q waves. Methods The databases PubMed, Web of Science, Scopus and cumulative index to nursing and allied health literature (CINAHL) were searched utilizing the preferred reporting items for systematic reviews and meta-analyses (PRISMA) format. The Rayyan systemic review software was used to screen articles for final review. The initial search (Search 1) consisted of the following terms: “dagger Q wave”, “dagger-like Q waves”, “dagger shape Q waves”. Subsequently, a broader search (Search 2) was conducted to determine if viable articles were omitted in the first search. This broader search strategy eliminated the term “HCM”. The authors then performed detailed review of the articles these two searches yielded, as well as a review of the references of these articles to find other relevant articles as well as produce a list of other pediatric conditions that may be associated with pathologic or nonpathologic Q waves. Results Of the articles found via the three searches, a total of nine English language articles that specifically addressed the prevalence of pathological Q waves in pediatric HCM patients were ultimately included in our systematic review. These nine articles described a total of 845 pediatric patients with HCM. Of these, 258 (30.5%) demonstrated pathological Q waves on their electrocardiograms. The range of percentages reported for pathological Q waves was 12.5 to 66.7%. Additionally, our review found fifteen different pediatric conditions reported to be associated with pathologic or non-pathologic Q waves. Conclusion Our systematic review confirmed that pathologic Q waves are a common and early electrocardiographic finding in children with HCM and may, in fact, be the only ECG finding. In addition, our review provided an extensive list of other pediatric diseases and conditions associated with pathologic or non-pathologic Q waves on the electrocardiogram.