Abstract Background Neurofibromatosis type 1 ( NF 1) is the most common autosomal dominant neurocutaneous disease with a prevalence of 1:2500. Approximately, 50% of the cases are sporadic. Advanced paternal age is associated with germline mutations and autosomal diseases. We aimed to use NF 1 as a paradigm to study the effect of parental age on sporadic mutation rates for both advanced and younger parental ages. Methods The medical charts of 118 NF 1 pediatric patients followed in a specialized Israeli NF 1 clinic were evaluated. Thirty‐one cases were diagnosed by genetic tests and 87 by NIH clinical criteria. Sixty‐four cases (54%) had a negative family history of NF 1 (sporadic cases). Data on parental ages at the time of the children's birth were compared to the national population database. Results Parental age of children with sporadic NF 1 was higher than the general population (32.7 years vs. 30.1 years, respectively, for the mothers and 36.5 years vs. 32.6 years, respectively, for the fathers; P < 0.0001 for both groups). In contrast, the age of the mothers and the fathers in the familial cases (30.3 and 33.9 years, respectively) did not differ from the general population. Significantly, fewer fathers of the sporadic group had been 25–29 years old at their child's birth compared with fathers in the general population (7.8% vs. 21%, respectively, P = 0.009), and significantly more fathers were ≥40 years old (29.7% vs. 13.6%, respectively, P = 0.0002). Differences in maternal age between these two groups were less prominent. Conclusion Parents of sporadic NF 1 cases are older. The risk for sporadic NF 1 was lower when the fathers were younger at the time of the affected child's birth, and gradually increased with paternal age.
The goal of this study was to determine the importance magnetic resonance (MR) imaging holds as a complementary fetal imaging modality to ultrasonography in deciding postnatal neurosurgical management.Between 1999 and 2003, 320 fetal MR imaging studies were performed at a single institution. Twenty-four fetuses were found to have central nervous system abnormalities that could potentially require a neurosurgical intervention. The diagnoses included spinal anomalies (scoliosis, myelomeningocele, and closed spinal dysraphism) and brain anomalies (ventriculomegaly with or without hemorrhage, intracranial cyst, craniosynostosis, and encephalocele). Fourteen of the 24 fetuses underwent surgery based on findings of prenatal MR imaging. In seven cases the pregnancy was terminated, and in three cases conservative follow up continues.In a variety of brain and spine disorders, prenatal MR imaging can delineate and characterize the abnormality, and thus assist in the diagnosis and in the planning of postnatal surgery and management. This modality provides important multiplanar images and may obviate the need for early postnatal computed tomography or MR imaging. Postnatal management can often be guided by prenatal MR imaging findings.
Abstract Introduction The TROPHY registry has been established to conduct an international multicenter prospective data collection on the surgical management of neonatal intraventricular hemorrhage (IVH)-related hydrocephalus to possibly contribute to future guidelines. The registry allows comparing the techniques established to treat hydrocephalus, such as external ventricular drainage (EVD), ventricular access device (VAD), ventricular subgaleal shunt (VSGS), and neuroendoscopic lavage (NEL). This first status report of the registry presents the results of the standard of care survey of participating centers assessed upon online registration. Methods On the standard of treatment forms, each center indicated the institutional protocol of interventions performed for neonatal post-hemorrhagic hydrocephalus (nPHH) for a time period of 2 years (Y1 and Y2) before starting the active participation in the registry. In addition, the amount of patients enrolled so far and allocated to a treatment approach are reported. Results According to the standard of treatment forms completed by 56 registered centers, fewer EVDs (Y1 55% Y2 46%) were used while more centers have implemented NEL (Y1 39%; Y2 52%) to treat nPHH. VAD (Y1 66%; Y2 66%) and VSGS (Y1 42%; Y2 41%) were used at a consistent rate during the 2 years. The majority of the centers used at least two different techniques to treat nPHH (43%), while 27% used only one technique, 21% used three, and 7% used even four different techniques. Patient data of 110 infants treated surgically between 9/2018 and 2/2021 (13% EVD, 15% VAD, 30% VSGS, and 43% NEL) were contributed by 29 centers. Conclusions Our results emphasize the varying strategies used for the treatment of nPHH. The international TROPHY registry has entered into a phase of growing patient recruitment. Further evaluation will be performed and published according to the registry protocol.
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