High-Titer Anti-ZSCAN1 Antibodies in a Toddler Clinically Diagnosed with Apparent Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome.

Severe obesity in young children prompts for a differential diagnosis that includes syndromic conditions. Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) syndrome is a potentially fatal disorder characterized by rapid-onset obesity associated with hypoventilation, neural crest tumors, and endocrine and behavioral abnormalities. The etiology of ROHHAD syndrome remains to be established, but recent research has been focusing on autoimmunity. We report on a 2-year-old girl with rapid-onset obesity during the first year of life who progressed to hypoventilation and encephalitis in less than four months since the start of accelerated weight gain. The patient had a high titer of anti-ZSCAN1 antibodies (348; reference range < 40), and the increased values did not decline after acute phase treatment. Other encephalitis-related antibodies, such as the anti-NDMA antibody, were not detected. The rapid progression from obesity onset to central hypoventilation with encephalitis warns about the severe consequences of early-onset ROHHAD syndrome. These data indicate that serial measurements of anti-ZSCAN1 antibodies might be useful for the diagnosis and estimation of disease severity. Further research is needed to determine whether it can predict the clinical course of ROHHAD syndrome and whether there is any difference in antibody production between patients with and without tumors.

Post-extubation dysphagia in pediatric trauma patients: a single-center case-series study.

We aimed to investigate whether ventilator support time influences the occurrence of dysphagia in pediatric trauma patients. This case-series study was conducted in a single pediatric emergency and critical care center from April 2012 to March 2022. Trauma patients aged < 16 years who underwent tracheal intubation were divided into two groups based on the occurrence of dysphagia within 72 h after extubation, and their data were analyzed. Tracheal intubation was performed in 75 pediatric trauma patients, and 53 of them were included in the analysis. A total of 22 patients had post-extubation dysphagia and head trauma. The dysphagia group tended to have more severe head injuries (Abbreviated Injury Scale (AIS) 4 [4-5] vs. 4 [0-4]; p < 0.05), a longer ventilator support time (7 days [4-11] vs. 1 day [1-2.5]; p < 0.05), and a longer length of hospital stay (27 days [18.0-40.3] vs. 11 days [10.0-21.0]; p < 0.05). Severe head trauma and a long duration of tracheal intubation may be risk factors for dysphagia in pediatric trauma patients. Therefore, early recognition of these risk factors could assist in treatment planning for speech-language pathologist intervention and nutritional routes of administration.

Oral to nasal endotracheal tube exchange using tracheal tube guide and video laryngoscope in a pediatric patient with facial burns: a case report.

BACKGROUND: Airway management in children with severe burns is difficult because of airway edema and prolonged duration of ventilatory management. There is insufficient evidence to suggest that tracheostomy is beneficial for children. CASE PRESENTATION: A male child aged 1 year and 4 months was injured when he accidentally fell into a bathtub filled with boiling water. Furthermore, 85% of the burnt area, including the face and neck, consisted of second-degree burns; hence, oral tracheal intubation and resuscitative infusion were required. In this case, the patient was safely switched from oral to nasotracheal intubation using a tracheal tube guide and video laryngoscope, without the use of a bronchoscope, and ventilatory management could be continued for 2 weeks. CONCLUSION: Oral to nasal endotracheal tube exchange using a tracheal tube guide and video laryngoscope may be useful not only for pediatric burn patients but also for adult patients who need to be safely switched from oral to nasotracheal intubation.

Perfusion abnormality on three-dimensional arterial spin labeling in patients with acute encephalopathy with biphasic seizures and late reduced diffusion.

PURPOSE: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is the most common encephalopathy subtype in Japanese children. Few case reports have shown perfusion abnormality on arterial spin labeling (ASL) in patients with AESD. The present study aimed to review the chronological change of cerebral perfusion on three-dimensional (3D) ASL in patients with AESD. METHODS: Twenty consecutive patients with AESD were enrolled; the patients underwent MRI including 3D ASL. The clinical course of AESD was divided into four phases according to the time from occurrence of seizures to MRI. Two neuroradiologists independently assessed presence or absence, distribution, and severity of perfusion abnormality using ASL and qualitatively scored perfusion abnormality using a five-point grading system. The level of interobserver agreement in the evaluation was analyzed using weighted κ statistics. Additionally, the signal ratio of abnormal perfusion region and peri-central sulcus region on ASL was semi-quantitatively evaluated. Moreover, we qualitatively compared the distribution between perfusion abnormality on ASL and bright tree appearance (BTA) on diffusion-weighted image (DWI). RESULTS: ASL showed hypoperfusion from 8.5 to 22 h after early seizures (ESs) and hyperperfusion within 24 h after late seizures (LSs). Various perfusions were found >3 days after LSs. Interobserver agreement for qualitative scored perfusion abnormality was good (κ = 0.77). The distribution of abnormal perfusion was relatively consistent with BTA. CONCLUSION: In AESD, cerebral perfusion changes with time. ASL showed hypoperfusion from 8.5 to 22 h after ESs, hyperperfusion within 24 h after LSs in patients with AESD.

Cardiopulmonary failure as a result of brainstem encephalitis caused by enterovirus D68.

Enterovirus D68 (EV-D68) causes respiratory illnesses such as pneumonia, and has been reported to cause acute flaccid myelitis. Enterovirus A71 (EV-A71) is known to cause cardiopulmonary failure due to brainstem encephalitis, but there have been few reports of these conditions being associated with EV-D68. Outbreaks of EV-D68 infection have occurred in the USA, Canada, Europe and Asia. Clinical management is largely supportive and there are no specific antivirals available. The case patient, a 4-year-old girl, had cardiopulmonary failure due to brainstem encephalitis. EV-D68 was isolated from a throat swab. On admission, she had cardiopulmonary failure, which required intensive care using a ventilator and inotropic agents. Her cardiac function improved, but she had residual bulbar paralysis and limb weakness, which resolved over a 6-month period. This case confirms that EV-D68, may cause severe illness due to brainstem encephalitis, similar to that caused by EV-A71.

Perfusion abnormality on three-dimensional arterial spin labeling with a 3T MR system in pediatric and adolescent patients with migraine.

PURPOSE: Few studies have assessed the prevalence of perfusion abnormality with migraine. This study aimed to determine the prevalence and topography of perfusion abnormality on three-dimensional (3D) arterial spin labeling (ASL) and assess the correlation between perfusion abnormality and clinical data in pediatric and adolescent patients with migraine. METHODS: Forty-nine consecutive pediatric and adolescent patients with migraine were enrolled, and they underwent 3 T MRI, including 3D ASL. Perfusion abnormality on 3D ASL was qualitatively evaluated using a five-point grading system and was compared with non-ASL MR findings. In patients with perfusion abnormality, relative cerebral perfusion signal intensity (rCPS) was measured. Moreover, we compared clinical data and 3D ASL findings between patients with and those without perfusion abnormality. RESULTS: Of the 49 patients, 11 (22%) exhibited perfusion abnormality, and the occipital lobe was the most frequently involved (73%). One patient showed mild hyperperfusion (rCPS =2.474), and 10 showed hypoperfusion (mean rCPS = 0.405 ±â€¯0.134). There was no abnormality on non-ASL MRI, except in one case. We found statistically significant differences in the presence of aura (P < .001), motor disabilities (P = .019), confusion (P = .004), hospitalization (P = .004), between patients with and those without perfusion abnormality. CONCLUSION: In pediatric and adolescent patients with migraine, 3D ASL shows a high prevalence of perfusion abnormality, especially in the occipital lobe. Patients with perfusion abnormality tend to show the specific clinical symptoms at disease onset and need hospitalization.

Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing.

Using whole exome sequencing, we confirmed a diagnosis of biotin-responsive basal ganglia disease (BBGD) accompanied by possible Kawasaki Disease. BBGD is an autosomal-recessive disease arising from a mutation of the SLC19A3 gene encoding the human thiamine transporter 2 protein, and usually manifests as subacute to acute encephalopathy. In this case, compound heterozygous mutations of SLC19A3, including a de novo mutation in one allele, was the cause of disease. Although a large number of genetic neural diseases have no efficient therapy, there are several treatable genetic diseases, including BBGD. However, to achieve better outcome and accurate diagnosis, therapeutic analysis and examination for disease confirmation should be done simultaneously. We encountered a case of possible Kawasaki disease, which had progressed to BBGD caused by an extremely rare genetic condition. Although the prevalence of BBGD is low, early recognition of this disease is important because effective improvement can be achieved by early biotin and thiamine supplementation.