Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants.

Osteogenesis imperfecta is characterized by frequent fractures, bone deformities, and other systemic symptoms. Severe osteogenesis imperfecta may progress to hydrocephalus; however, treatment strategies for this complication remain unclear. Here, we describe severe osteogenesis imperfecta in an infant with symptomatic hydrocephalus treated with ventriculosubgaleal shunt placement. Targeted next-generation sequencing revealed novel compound heterozygous CRTAP variants, i.e., NM_006371.5, c.241 G > T, p.(Glu81*) and NM_006371.5, c.923-2_932del. We suggest that ventriculosubgaleal shunt placement is an effective and safe treatment for hydrocephalus in patients with severe osteogenesis imperfecta.

Prolonged renal function impairment in infants born during the peri-viable period: A retrospective longitudinal cohort study.

BACKGROUND: The number of infants born during the peri-viable period who survive has been increasing. AIM: To clarify renal function in infants from the time of birth during the peri-viable period until their due date. STUDY DESIGN: This retrospective cohort study was conducted at a single center. SUBJECTS: We reviewed the data of infants born at ≤28 weeks of gestation between 2018 and 2022 at our hospital. The infants were divided into the following groups: born at 22-24 weeks vs. 25-28 weeks (appropriate-for-gestational age [AGA] infants), and AGA infants vs. small-for-gestational age (SGA) infants (born at 22-28 weeks). OUTCOME MEASURES: We compared the perinatal data and renal function of the infants from birth until their due date. RESULTS: Eighty-one infants were included. Their serum creatinine, fractional excretion of sodium, and urine glucose levels were high or positive soon after birth but gradually improved. The urine albumin level was significantly higher among AGA infants born at 22-24 weeks, even at term equivalent age, than among those born at 25-28 weeks. CONCLUSIONS: Persistent renal insufficiency was observed even around the term equivalent age in peri-viable infants. Follow-up data collected after the neonatal period should be investigated in these infants.

Assisted reproductive technology and neonatal intensive care unit: A retrospective observational study from a single center.

BACKGROUND: An increasing number of infants are being conceived using assisted reproductive technology (ART). The effects of infertility treatments (IFTs) on infant outcomes have been extensively debated; however, a consensus has not yet been reached. In the present study, we investigated the impact of IFTs on neonatal intensive care unit (NICU) managements using data collected at a single large NICU center. METHODS: We retrospectively investigated patients admitted to the University of Tokyo Hospital NICU during three different time periods (2010, 2015, and 2020). We included 131, 201, and 323 infants, respectively, and compared a number of factors among groups classified by the mode of conception: spontaneous pregnancy (SP), non-ART (conceived with assisted ovulation or artificial insemination), and ART. We also compared the mode of conception among inborn singletons. RESULTS: The rate of admission of ART infants significantly increased from 2010 (9.1%) to 2015 (22.9%) and 2020 (25.7%) (p values of <0.05 and <0.01, respectively). When compared among inborn singletons, ART infants were more often admitted to NICU (p < 0.01). Congenital anomalies and surgical interventions were significantly more frequent in the SP group than in the ART group (p < 0.01). No significant differences were observed in neonatal outcomes among ART infants from 2010 to 2015/2020. CONCLUSIONS: The rate of ART infants admitted to the NICU has significantly increased, with ART pregnancies now accounting for 25% of admissions to the perinatal medical center. ART procedure may be a risk factor for NICU admission. Neonatal intensive care is becoming increasingly indispensable for ART pregnancies.

Anterior cingulate cortex involvement in non-paraneoplastic limbic encephalitis.

BACKGROUND: Non-paraneoplastic limbic encephalitis is characterized by attention deficit, loss of emotion control, and impaired memory. Viral infection can cause acute encephalitis in children, occasionally exhibiting clinical features of limbic dysfunction. However, how viral infection affects the limbic system remains to be elucidated. CASE DESCRIPTION: A 5-year-old Japanese boy was admitted to our hospital because of high fever and status epilepticus. After seizures were controlled by diazepam, he exhibited attention deficit, loss of emotion control, and impaired memory, suggesting acute limbic encephalitis. Since titers of antibodies against Coxsackie virus A10 were significantly elevated in the serum, we diagnosed him with non-paraneoplastic limbic encephalitis associated with the viral infection. Brain magnetic resonance imaging demonstrated involvement of anterior cingulate cortex as well as white matter of the frontal lobe in the acute period. After steroid pulse therapy, these brain lesions subsequently disappeared in a time-dependent manner, beginning with the frontal lobe white matter and extending to the anterior cingulate cortex, and his psychological symptoms also disappeared. CONCLUSION: To the best of our knowledge, this is the first report to show the involvement of the region from the anterior cingulate cortex to the frontal lobe white matter. Clinical features such as seizures, attention deficit, loss of emotion control, and impaired memory suggest that this viral limbic encephalitis possibly extended from the frontal white matter to the anterior cingulate cortex via inter-neuronal connections in a time-dependent manner.