To analyze the imaging manifestations of common fetal oral masses by ultrasound combined with magnetic resonance imaging (MRI) and to discuss their differential diagnoses. A retrospective study of 6 fetuses with oral masses was performed at a tertiary referral center. The imaging features of prenatal ultrasonography and MRI in the diagnosis of fetal oral masses were analyzed. Histopathological examination and/or postpartum ultrasound revealed lymphangioma malformation in 2 fetuses, and mucosal retention cyst, mature teratoma, immature teratoma, and cranial meningocele in 1 fetus, respectively. The teratoma had a characteristic sonographic appearance. In our study, the 4 cases of cystic masses did not have an abnormal vessel architecture. Supplemental MRI revealed a mass effect at the level of the hypopharynx, and in 2 cases with polyhydramnios, the mass obstructed the fetuses' upper airway. Thus, ex-utero intrapartum therapy surgery was performed to secure the newborn's airway. Oral fetal tumors represent rare congenital malformations. This study shows that a prenatal diagnosis of oral masses is feasible by ultrasound examination. MRI can further confirm the results of ultrasonography and clearly show the relationship between the mass and the hypopharynx. Ultrasonography combined with MRI could, to a large extent, facilitate early detection and appropriate treatment and improve outcome.

Few data on recurrent bacterial meningitis (RBM) in children are available. Here, we estimated the frequency of RBM in children and investigated the predisposing conditions, etiology, and clinical characteristics of RBM in children. Cases of RBM in the Beijing Children's Hospital medical record database between January 2006 and December 2019 were collected. In total, 1905 children with bacterial meningitis (BM) were documented in the Beijing Children's Hospital medical record database. A total of 43 patients had RBM. The rate of RBM in children was 2.3% (43/1905). Forty (93.0%) patients had predisposing conditions, including 15 (34.9%) cases of inner ear malformations, 5 (11.6%) cases of dermal sinus tracts, 9 (20.9%) cases of head injury, 5 (11.6%) cases of congenital cranial meningocele, 3 (7.0%) cases of congenital skull base defects, 3 (7.0%) cases of immunodeficiency, and other 3 (7.0%) cases of unknown reason. Among all the 121 BM episodes, a total of 64 episodes were etiologically confirmed BM and the other 57 episodes were probable BM. Streptococcus pneumoniae (n = 52) was accounted for 81.3% of confirmed BM episodes. Thirty-four of the 37 patients with congenital or acquired anatomical defects were available to follow up after surgeries, and all of them had no BM after surgeries. Three patients with antibody deficiencies got intravenous immunoglobulin therapy and they did not suffer BM anymore. RBM is rare in children. The majority of children with RBM had predisposing conditions including congenital/acquired anatomical defects and immunodeficiency. Interventions should be implemented to solve the underlying conditions to avoid RBM.

Neurodevelopmental disorders (NDDs) often associate with epilepsy or craniofacial malformations. Recent large-scale DNA analyses identified hundreds of candidate genes for NDDs, but a large portion of the cases still remain unexplained. We aimed to identify novel candidate genes for NDDs. We performed exome sequencing of 95 patients with NDDs including 51 with trigonocephaly and subsequent targeted sequencing of additional 463 NDD patients, functional analyses of variant in vitro, and evaluations of autism spectrum disorder (ASD)-like phenotypes and seizure-related phenotypes in vivo. We identified de novo truncation variants in nine novel genes; CYP1A1, C14orf119, FLI1, CYB5R4, SEL1L2, RAB11FIP2, ZMYND8, ZNF143, and MSX2. MSX2 variants have been described in patients with cranial malformations, and our present patient with the MSX2 de novo truncation variant showed cranial meningocele and partial epilepsy. MSX2 protein is known to be ubiquitinated by an E3 ubiquitin ligase PJA1, and interestingly we found a PJA1 hemizygous p.Arg376Cys variant recurrently in seven Japanese NDD patients; five with trigonocephaly and one with partial epilepsy, and the variant was absent in 886 Japanese control individuals. Pja1 knock-in mice carrying p.Arg365Cys, which is equivalent to p.Arg376Cys in human, showed a significant decrease in PJA1 protein amount, suggesting a loss-of-function effect of the variant. Pja1 knockout mice displayed moderate deficits in isolation-induced ultrasonic vocalizations and increased seizure susceptibility to pentylenetetrazole. These findings propose novel candidate genes including PJA1 and MSX2 for NDDs associated with craniofacial abnormalities and/or epilepsy.

There are no previous reports of cranial meningocele in horses. In this report, we present the case of a 1-day-old male Quarter Horse that was born with a mass in the occipital region. The newborn was brought to the veterinary hospital, and a meningocele was diagnosed. The patient then underwent surgical closure of the defect. After an initial favorable response, the patient displayed signs of infection. The antibiotic therapy was changed, and the patient's condition improved. On the 13th postoperative day, the patient exhibited ataxia, difficulty standing, and limb hypertonia. Hydrocephalus was suspected, and a cerebrospinal puncture was performed. Because of the lack of improvement after the puncture and the high turbidity of the obtained fluid, bacterial encephalitis was suspected and antibiotic therapy restarted. The patient was euthanized on the 14th postoperative day when no response to therapy was observed. Postmortem tomography and magnetic resonance imaging showed dilation of the encephalic ventricles with the presence of gas. On necropsy, bacterial encephalitis was confirmed, and multidrug-resistant Escherichia coli was isolated. This case suggests that surgical treatment of meningocele in horses is feasible; however, infectious complications may limit the long-term therapeutic success.

The term meningoencephalocele (MEC) describes a herniation of cerebral tissue and meninges through a defect in the cranium, whereas a meningocele (MC) is a herniation of the meninges alone. To describe the clinical features, magnetic resonance imaging (MRI) characteristics, and outcomes of dogs with cranial MC and MEC. Twenty-two client-owned dogs diagnosed with cranial MC or MEC. Multicentric retrospective descriptive study. Clinical records of 13 institutions were reviewed. Signalment, clinical history, neurologic findings and MRI characteristics as well as treatment and outcome were recorded and evaluated. Most affected dogs were presented at a young age (median, 6.5 months; range, 1 month - 8 years). The most common presenting complaints were seizures and behavioral abnormalities. Intranasal MEC was more common than parietal MC. Magnetic resonance imaging identified meningeal enhancement of the protruded tissue in 77% of the cases. Porencephaly was seen in all cases with parietal MC. Cerebrospinal fluid (CSF) analysis identified mild abnormalities in 4 of 11 cases. Surgery was not performed in any affected dog. Seventeen patients were treated medically, and seizures were adequately controlled with anti-epileptic drugs in 10 dogs. Dogs with intranasal MEC and mild neurologic signs had a fair prognosis with medical treatment. Although uncommon, MC and MEC should be considered as a differential diagnosis in young dogs presenting with seizures or alterations in behavior. Medical treatment is a valid option with a fair prognosis when the neurologic signs are mild.