A 2-Year-Old Child with Alazami Syndrome with Newly Reported Findings of Immune Deficiency, Periventricular Nodular Heterotopia, and Stroke; Broadening the Phenotype of Alazami.

Alazami syndrome is a rare autosomal recessive neurodevelopmental disorder due to loss-of-function variants in the La ribonucleoprotein 7 gene. Children with Alazami syndrome are most often affected by a combination of primordial dwarfism, intellectual disability, and distinctive facial features. Previous cases have been primarily found in consanguineous families from the Middle East, Asia, and North Africa.

Girl-Boy Twins with Developmental Delay from 16p11.2 Triplication due to Biparental Inheritance from Two Parents with 16p11.2 Duplication.

The 16p11.2 duplication is a well-known cause of developmental delay and autism, but there are only 2 previously reported cases of 16p11.2 triplication.

Fetal Cerebral Sinovenous Thrombosis and Dural Sinus Malformation.

Background: Fetal cerebral sinovenous thrombosis (CSVT) and dural sinus malformation (DSM) are rare types of fetal cerebral venous pathology that are becoming increasingly recognized as fetal imaging advances. Fetal DSMs are a common source of fetal CSVT, although CSVT may occur without a DSM. The literature on these disorders is limited.

Patients With Extreme Early Onset Juvenile Huntington Disease Can Have Delays in Diagnosis: A Case Report and Literature Review.

Huntington disease (HD) is caused by a pathologic cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the gene. Typical adult-onset disease occurs with a minimum of 40 repeats. With more than 60 CAG repeats, patients can have juvenile-onset disease (jHD), with symptom onset by the age of 20 years.

High-Dose Prednisolone for Treatment of Infantile Spasms After Presumed Perinatal Stroke.

BACKGROUND: High-dose prednisone and prednisolone have been increasingly studied as a lower-cost alternative to adrenocorticotropic hormone for the treatment of infantile spasms, but this treatment has not been well studied in children with infantile spasms due to perinatal stroke. METHODS: We identified a girl with new-onset infantile spasms due to presumed perinatal left middle cerebral artery stroke seen in our hospital's pediatric stroke clinic in 2019. RESULTS: This girl developed infantile spasms at 9 months old.

The Impact of Pediatric Basal Ganglia Stroke on Mental Health in Children: Report of 2 Cases.

Background: The impact of basal ganglia stroke on mental health is better described in adults than in children. We report 2 children with significant mental health issues after basal ganglia stroke.

Case Reports: Patient 1, an 8-year-old boy, had mild anxiety before his left basal ganglia stroke.

Bow Hunter's Syndrome in Children: A Review of the Literature and Presentation of a New Case in a 12-Year-Old Girl.

Background: Bow hunter's syndrome, or occlusion of the vertebral artery with head rotation leading to ischemia and sometimes stroke, is rarely described in children. The authors review the literature and present a new case.

Methods: Both OVID dating back to 1946 and PubMed records were reviewed using the terms ("Bow hunter syndrome" OR "bow hunter's") OR "rotational vertebral artery occlusion" combined with "child," and limited to English language.

Mechanical Thrombectomy in Pediatric Stroke: Report of Three New Cases.

Background: Mechanical thrombectomy for treatment of arterial ischemic stroke (AIS) and cerebral venous thrombosis (CVT) is well-studied in adult populations, but not in children.

Methods: We report 3 new cases of pediatric stroke treated using mechanical thrombectomy. Two cases of AIS and 1 case of CVT were identified from 2018 pediatric stroke clinic records.

Childhood Stroke and Vision: A Review of the Literature.

Objective: Here we review the current literature regarding visual outcome after perinatal and childhood stroke.

Background: Visual deficits following stroke in adults are common and have been previously reviewed. Less is known about visual deficits following stroke in neonates and older children.

Novel insights into the polycythemia-paraganglioma-somatostatinoma syndrome.

Worldwide, the syndromes of paraganglioma (PGL), somatostatinoma (SOM) and early childhood polycythemia are described in only a few patients with somatic mutations in the hypoxia-inducible factor 2 alpha (HIF2A). This study provides detailed information about the clinical aspects and course of 7 patients with this syndrome and brings into perspective these experiences with the pertinent literature. Six females and one male presented at a median age of 28 years (range 11-46).

The Controversial Second Impact Syndrome: A Review of the Literature.

Background: Second impact syndrome is a devastating injury that primarily affects athletic children and young adults. It occurs when a second concussion occurs before symptoms from the first concussion have resolved. Diffuse and often catastrophic cerebral edema results.

A Pilot Study of Reasons and Risk Factors for "No-Shows" in a Pediatric Neurology Clinic.

Missed clinic appointments lead to decreased patient access, worse patient outcomes, and increased healthcare costs. The goal of this pilot study was to identify reasons for and risk factors associated with missed pediatric neurology outpatient appointments ("no-shows"). This was a prospective cohort study of patients scheduled for 1 week of clinic.

An atypical case of Canavan disease with stroke-like presentation.

Background: Canavan disease is an autosomal recessive leukodystrophy caused by a deficiency of aspartoacylase. The disease has a severe course, with death occurring in the first few years of life. Atypical patients with mild courses have been reported, but acute presentations similar to stroke have not been well described.

The estimated cost of "no-shows" in an academic pediatric neurology clinic.

Objective: Missed appointments ("no-shows") represent an important source of lost revenue for academic medical centers. The goal of this study was to examine the costs of "no-shows" at an academic pediatric neurology outpatient clinic.

Methods: This was a retrospective cohort study of patients who missed appointments at an academic pediatric neurology outpatient clinic during 1 academic year.

Poor wound healing after pial synangiosis in 2 children with moyamoya vasculopathy associated with neurofibromatosis type 1.

Wound healing is a key component of recovery for children with neurologic conditions undergoing neurosurgical procedures. Understanding factors that can impair wound healing aids in planning long-term clinical care. Children with neurofibromatosis type 1 are at risk for vasculopathies in the brain (including moyamoya vasculopathy) and in other organs, including the heart, lung, and skin.