Maternal SARS-CoV-2, Placental Changes and Brain Injury in 2 Neonates.

Long-term neurodevelopmental sequelae are a potential concern in neonates following in utero exposure to severe acute respiratory syndrome coronavirus disease 2 (SARS-CoV-2). We report 2 neonates born to SARS-CoV-2 positive mothers, who displayed early-onset (day 1) seizures, acquired microcephaly, and significant developmental delay over time. Sequential MRI showed severe parenchymal atrophy and cystic encephalomalacia.

Spastic Diplegia in a Haitian Girl with Angelman Syndrome.

Spastic diplegia, a muscle hypertonia motor syndrome, can occur in conjunction with the characteristic abnormal movement features of Angelman syndrome (AS), a neurodevelopmental disorder with primary features of ataxic gait, happy demeanor, developmental delay, speech impairment, intellectual disability, microcephaly, and seizures. Spastic diplegia is classically associated with cerebral palsy (CP), an umbrella term encompassing developmental delay, abnormal brain magnetic resonance imaging findings, and various types of CP including spastic, ataxic, dyskinetic, and mixed types. We present a 12-year-old Haitian patient of African descent with AS due to a microdeletion involving the entire (ubiquitin-protein ligase E3A) gene and spastic diplegia.

First Travel-Associated Congenital Zika Syndrome in the US: Ocular and Neurological Findings in the Absence of Microcephaly.

A 6-day-old female baby with known diagnosis of congenital Zika infection was referred for ophthalmologic examination. The mother (37 years old) was referred for a pruritic rash, conjunctival hyperemia, and malaise at 12 weeks of gestation while still living in Venezuela. Upon arrival to Miami, Zika virus (ZIKV) exposure was confirmed during prenatal screening.

A novel sporadic 614-Kb duplication of the 22q11.2 chromosome in a child with amyoplasia.

Arthrogryposis is a rare congenital disorder characterized by multiple fixed joint contractures. Decreased fetal movement, regardless of etiology, causes an immobilization of the affected joints and subsequent contractures. Amyoplasia refers to the most common variant of arthrogryposis in which patients develop symmetrical limb contractures because of muscle underdevelopment.

Case of maternally transmitted juvenile Huntington's disease with a very large trinucleotide repeat.

We describe and present a video of a patient with maternally inherited juvenile Huntington's disease (HD) caused by a very large (108-repeat) expansion. Maternally transmitted very large trinucleotide repeats (>100) are extremely rare in juvenile HD and may represent instability during female gametogenesis.