Diagnosis of Congenital Toxoplasmosis: Challenges and Management Outcomes.

Introduction Congenital toxoplasmosis (CT), despite being mostly subclinical at birth, can cause disabling disease in the fetus and lead to long-term sequelae. It is an important cause of chorioretinitis in infants and adolescents. Data on postnatal treatment are controversial, and there is a lack of universal guidelines. Methods A cross-sectional study of newborns with suspected CT was conducted between January 2007 and December 2021. Results Seventy-one patients with suspected CT were included. During pregnancy, 64 (90.1%) of the mothers underwent therapy, of which 59 (83.1%) with spiramycin. Amniocentesis identified one positive polymerase chain reaction assay. Most newborns were asymptomatic with normal laboratory, ophthalmological, and hearing screening. There was one case of hyperproteinorrachia. Fifty-seven patients (80.3%) started treatment: 42 (73.7%) with spiramycin, seven (12.3%) with pyrimethamine, sulfadiazine, and folinic acid (P+S+FA), and eight (14%) with P+S+FA intercalated with spiramycin. Adverse effects were found in 11 (19.3%) cases, mainly neutropenia. After investigation, we found three confirmed CT cases corresponding to 4.2% of suspected cases and an incidence of 0.4 per 10,000 births. All had normal clinical and laboratory exams in the neonatal period and started P+S+FA, fulfilling 12 months of therapy. During the follow-up, all presented normal psychomotor development without any long-term sequelae. Conclusion The lower incidence in our study, compared to the incidence in Europe, may be related to the decline in the prevalence of toxoplasmosis as well as the effectiveness of measures to prevent primary infection and a well-established program of antenatal screening, followed by the early initiation of treatment during pregnancy to prevent vertical transmission.

A rare case of tongue biting during sleep in childhood.

Bleeding tongue-biting episodes during sleep are a rare and alarming situation that can negatively impact the child's and parents' sleep, affecting their quality of life. Although highly suggestive of epilepsy, a differential diagnosis should be made with sleep-related movement disorders such as bruxism, hypnic myoclonus, facio-mandibular myoclonus, and geniospasm when this hypothesis is excluded. The clinical history, electroencephalogram, and video-polysomnography are essential for diagnostic assessment. Treatment with clonazepam can be necessary in the presence of frequent tongue biting that causes severe injuries and sleep disturbance. This study reports the challenging case of managing and diagnosing a 2-year-old boy with recurrent tongue biting during sleep since he was 12 months old, causing bleeding lacerations, frequent awakenings, and significant sleep impairment with daytime consequences for him and his family. CITATION: Cascais I, Ashworth J, Ribeiro L, Freitas J, Rios M. A rare case of tongue biting during sleep in childhood. J Clin Sleep Med. 2024;20(4):653-656.

Portal cavernoma in type 1 neurofibromatosis: A fortuitous or causal association?

Neurofibromatosis type 1 (NF-1) is a multisystem genetic disorder affecting the NF1 tumor suppressor gene. Patients typically develop superficial (cutaneous) and internal (plexiform) neurofibromas. The latter may rarely involve the liver locating in the hilum and encasing the portal vessels, leading to portal hypertension. Vascular abnormalities (NF-I vasculopathy) are a well-recognized manifestation of NF-1. Although the pathogenesis is not well-known, NF-1 vasculopathy involves arteries of both peripheral and cerebral territories, with venous thrombosis being exceptionally reported. Portal venous thrombosis (PVT) is the leading cause of portal hypertension in childhood and has been associated with several risk factors. Nevertheless, predisposing conditions remain unknown in more than 50% of the cases. The treatment options are limited, and its management is nonconsensual in the pediatric age. We report the case of a 9-year-old boy with clinically and genetically confirmed NF-1, diagnosed with portal venous cavernoma after an episode of gastrointestinal bleeding. There were no identifiable risk factors for PVT and intrahepatic peri-hilar plexiform neurofibroma was excluded by MRI imaging. To the best of our knowledge, this is the first report of PVT in NF-1. We speculate that NF-1 vasculopathy may have been a pathogenic factor, or instead, it was a fortuitous association.

Food Allergy in Preschoolers: Parents' Perception and Self-Reported Prevalence.

BACKGROUND: Food allergy is a potentially fatal condition (in the case of anaphylaxis, for example) and is characterized by an increasing prevalence. The main purpose of this study is to identify preschool children with parent-reported food allergies and characterize this population and type of allergy. METHODS: This is a cross-sectional study, based on questionnaires to parents/legal guardians. All children who attend daycare or preschool in an area of the city of Porto, Portugal, were included. RESULTS: A total of 740 questionnaires were distributed to nine schools, and responses were obtained from 363 (49.1%). Self-reported food reaction and/or allergy was related in 11.2% of children. The median age of the first reaction was 12 months and the most registered foods were milk, dry seed, and peanut. Cutaneous (48.7%) and gastrointestinal (35.9%) symptoms were the main manifestations. History of parents' and siblings' food allergies had statistically significant associations with food reactions and/or allergies of the child, with OR 3.05 (p=0.04, 95% CI 1.01-8.81) and OR 8.69 (p<0.01, 95% CI 2.11-35.79), respectively. Besides that, children's atopic dermatitis also had a statistically significant association with self-reported food reactions and/or allergies, with OR 2.30 (p<0.05, 95% CI 1.01-5.21). CONCLUSION: Food reactions and/or allergies were reported in 11.2% of children. The history of parents' and siblings' food allergies and children's atopic dermatitis had statistically significant associations with food reactions and/or allergies, which shows that it may be an important factor to consider.