Incomplete spinal cord injury following minor trauma in two siblings with spondylocostal dysostis type 6.

Biallelic pathogenic variants of the RIPPLY2 gene have been recognized to cause a subtype of autosomal recessive spondylocostal dysostosis (SCDO6), characterized by predominant cervical spine malformation with minor or absent involvement of the ribs. To date, RIPPLY2 associated SCDO6 has been described in ten patients in five studies with accompanying clinical symptoms varying from transient and recurrent torticollis to flaccid quadriplegia. Here, we describe two additional patients in one family in which the c.A238T:p.Arg80* RIPPLY2 mutation in the homozygous state, was associated with severe malformation of the posterior elements of the cervical vertebral column. In both cases neurological symptoms occurred early in life due to spinal cord compromise. These two cases, in keeping with previous reports, highlight the early and progressive natural history of cervical deformity in this rare skeletal dysplasia and the need for close neurological and radiological surveillance. Surgical decision-making needs to carefully balance the need for early intervention to protect spinal cord function on one hand, with the problem of bone malformation and skeletal immaturity on the other.

Neurologic Complications of Rotavirus Infections in Children.

BACKGROUND: Rotavirus is the leading cause of complicated gastroenteritis in children younger than 5 years in countries where rotavirus vaccination is not implemented as a routine vaccination. Besides the intestinal symptoms that are associated with ordinary gastroenteritis, rotavirus can cause neurological complications. The aim of this study is to describe the clinical characteristics of complicated rotavirus infections. METHODS: From January 1, 2016 to January 31, 2022, all children (below the age of 18 years) with a positive rotavirus test in feces that were either hospitalized or presented at the outpatient clinic or emergency department of a large pediatric hospital in the Netherlands were included. Rotavirus was only tested in case of a severe or abnormal disease course. We described the clinical characteristics and outcomes with a particular focus on neurological manifestations. RESULTS: In total, 59 patients with rotavirus were included of whom 50 (84.7%) were hospitalized and 18 (30.5%) needed intravenous rehydration. Ten patients (16.9%) had neurologic complications, of whom 6 patients (60.0%) presented encephalopathy. Two patients (20.0%) with neurological symptoms showed abnormalities on diagnostic imaging. CONCLUSIONS: Rotavirus can cause gastroenteritis with severe, but apparently self-limiting, neurological manifestations. Considering rotavirus in pediatric patients with neurological symptoms such as encephalopathy and encephalitis is therefore important. Early detection of rotavirus infection may predict a favorable course of the disease and may thereby prevent unnecessary treatment and should be further investigated.

Early recognition of characteristic conventional and amplitude-integrated EEG patterns of seizures in SCN2A and KCNQ3-related epilepsy in neonates.

PURPOSE: Early recognition of seizures in neonates secondary to pathogenic variants in potassium or sodium channel coding genes is crucial, as these seizures are often resistant to commonly used anti-seizure medications but respond well to sodium channel blockers. Recently, a characteristic ictal amplitude-integrated electroencephalogram (aEEG) pattern was described in neonates with KCNQ2-related epilepsy. We report a similar aEEG pattern in seizures caused by SCN2A- and KCNQ3-pathogenic variants, as well as conventional EEG (cEEG) descriptions. METHODS: International multicentre descriptive study, reporting clinical characteristics, aEEG and cEEG findings of 13 neonates with seizures due to pathogenic SCN2A- and KCNQ3-variants. As a comparison group, aEEGs and cEEGs of neonates with seizures due to hypoxic-ischemic encephalopathy (n = 117) and other confirmed genetic causes affecting channel function (n = 55) were reviewed. RESULTS: In 12 out of 13 patients, the aEEG showed a characteristic sequence of brief onset with a decrease, followed by a quick rise, and then postictal amplitude attenuation. This pattern correlated with bilateral EEG onset attenuation, followed by rhythmic discharges ending in several seconds of post-ictal amplitude suppression. Apart from patients with KCNQ2-related epilepsy, none of the patients in the comparison groups had a similar aEEG or cEEG pattern. DISCUSSION: Seizures in SCN2A- and KCNQ3-related epilepsy in neonates can usually be recognized by a characteristic ictal aEEG pattern, previously reported only in KCNQ2-related epilepsy, extending this unique feature to other channelopathies. Awareness of this pattern facilitates the prompt initiation of precision treatment with sodium channel blockers even before genetic results are available.

Variation in flooding-induced morphological traits in natural populations of white clover (Trifolium repens) and their effects on plant performance during soil flooding.

BACKGROUND AND AIMS: Soil flooding leads to low soil oxygen concentrations and thereby negatively affects plant growth. Differences in flooding tolerance have been explained by the variation among species in the extent to which traits related to acclimation were expressed. However, our knowledge of variation within natural species (i.e. among individual genotypes) in traits related to flooding tolerance is very limited. Such data could tell us on which traits selection might have taken place, and will take place in future. The aim of the present study was to show that variation in flooding-tolerance-related traits is present among genotypes of the same species, and that both the constitutive variation and the plastic variation in flooding-induced changes in trait expression affect the performance of genotypes during soil flooding. METHODS: Clones of Trifolium repens originating from a river foreland were subjected to either drained, control conditions or to soil flooding. Constitutive expression of morphological traits was recorded on control plants, and flooding-induced changes in expression were compared with these constitutive expression levels. Moreover, the effect of both constitutive and flooding-induced trait expression on plant performance was determined. KEY RESULTS: Constitutive and plastic variation of several morphological traits significantly affected plant performance. Even relatively small increases in root porosity and petiole length contributed to better performance during soil flooding. High specific leaf area, by contrast, was negatively correlated with performance during flooding. CONCLUSIONS: The data show that different genotypes responded differently to soil flooding, which could be linked to variation in morphological trait expression. As flooded and drained conditions exerted different selection pressures on trait expression, the optimal value for constitutive and plastic traits will depend on the frequency and duration of flooding. These data will help us understanding the mechanisms affecting short- and long-term dynamics in flooding-prone ecosystems.