Neutropenia and elevated concentrations of hepatic transaminases often lead to referrals from emergency or outpatient departments to relevant specialists to diagnose underlying inborn errors of metabolism. Glycogen storage disease type (GSD) Ib, a rare congenital disorder of glucose metabolism caused by the SLC37A4 gene mutations, shows various manifestations, including persistent neutropenia and elevated hepatic transaminases. Empagliflozin has demonstrated its efficacy in treating GSD Ib-associated neutropenia by reducing the entry of 1,5-anhydroglucitol-6-phosphate into the neutrophils. This article reports successful empagliflozin therapy for GSD Ib-related neutropenia in 2 Korean adolescents. Diagnosing GSD Ib is complex and usually initiated by a referral from emergency or outpatient departments when there is a high index of suspicion. Once diagnosed, empagliflozin shows promising outcomes in restoring counts and function of the neutrophils without severe adverse effects in children with GSD Ib, supporting it as a safe and effective therapeutic option for GSD Ib-associated neutropenia.

We describe our experience regarding metronidazole-induced encephalopathy in a patient with acute lymphoblastic leukemia during chemotherapy. A 17-year-old girl was admitted to our institution with complaints of abdominal pain and mucoid stools. She was diagnosed with acute lymphoblastic leukemia and had been undergoing intensified chemotherapy protocol. During the fifth week of interim maintenance-1 therapy, she developed a fever and complained of chills. On stool examination, stool occult blood was positive and Clostridium difficile toxin A/B test was positive. She was started on metronidazole treatment for possible Clostridium difficile infection and other inflammatory gastrointestinal diseases. Ten days later, the patient complained of dizziness and nausea. A brain MRI was performed to make a differential diagnosis of any chemotherapy- induced CNS complication such as necrotizing leukoencephalopathy. The brain MRI showed features of metronidazole-induced encephalopathy. Metronidazole was discontinued and symptoms started to subside four days after. A follow-up brain MRI performed at four weeks showed that lesions of the dentate nucleus had disappeared.
Abdominal Pain ; Adolescent ; Brain ; Brain Diseases ; Cerebellar Nuclei ; Chills ; Clostridium difficile ; Diagnosis, Differential ; Dizziness ; Drug Therapy ; Female ; Fever ; Follow-Up Studies ; Gastrointestinal Diseases ; Humans ; Leukoencephalopathies ; Magnetic Resonance Imaging ; Metronidazole ; Nausea ; Occult Blood ; Precursor Cell Lymphoblastic Leukemia-Lymphoma

Purpose: Coronavirus disease 2019 (COVID-19) can be associated with neurological complications. This study investigated the impact of COVID-19 outbreaks on seizure incidence and duration in children in Korea. Methods: We retrospectively analyzed medical records from Kyungpook National University Children’s Hospital, including 768 children with seizures during the peak COVID-19 outbreaks in March and August 2022, and compared patterns with the same periods in 2021. We examined demographic and clinical characteristics, causes of seizures, underlying conditions, seizure durations, and COVID-19 test results. Results: Out of 16,373,836 COVID-19 cases during the first peak, 25.6% were children (4,184,383), and during the second peak, 20.5% of 6,400,244 cases were children (1,314,331). No significant age differences were observed between either peak and the previous year. However, when compared to the previous year, febrile seizures (FS) were more common during both peaks (25.9% vs. 65.1% in the first peak; 34.3% vs. 59.2% in the second peak). The prevalence of FS was significantly higher in the COVID-19-positive group (84.1%) than in the COVID-19-negative group (51.9%). The incidence of new-onset seizures or breakthrough seizures showed no significant difference. Seizure duration and the incidence of status epilepticus (SE) showed no significant changes, but SE was more common in the COVID-19-negative group (17.1% vs. 6.2%). The clinical features of FS were similar in both groups. Conclusion COVID-19 appeared to increase the risk of FS in children, but there was no significant impact on the risk of breakthrough seizures or SE in children with epilepsy. Nevertheless, larger-scale studies are necessary.

Background: and Purpose The current study analyzed the interictal epileptiform discharge (IED)-related hemodynamic response and aimed to determine the clinical usefulness of simultaneous electroencephalography and functional magnetic resonance imaging (EEG-fMRI) in defining the epileptogenic zone (EZ) in children with focal epilepsy. Methods: Patients with focal epilepsy showing IEDs on conventional EEG were evaluated using EEG-fMRI. Statistical analyses were performed using the times of spike as events modeled with multiple hemodynamic response functions. The area showing the most significant t-value for blood-oxygen-level-dependent (BOLD) changes was compared with the presumed EZ. Moreover, BOLD responses between -9 and +9 s around the spike times were analyzed to track the hemodynamic response patterns over time. Results: Half (n=13) of 26 EEG-fMRI investigations of 19 patients were successful. Two patients showed 2 different types of spikes, resulting in 15 analyses. The maximum BOLD response was concordant with the EZ in 11 (73.3%) of the 15 analyses. In 10 (66.7%) analyses, the BOLD response localized the EZs more specifically. Focal BOLD responses in the EZs occurred before IEDs in 11 analyses and were often widespread after IEDs. Hemodynamic response patterns were consistent in the same epilepsy syndrome or when repeating the investigation in the same patients. Conclusions EEG-fMRI can provide additional information for localizing the EZ in children with focal epilepsy, and also reveal the pathogenesis of pediatric epilepsy by evaluating the patterns in the hemodynamic response across time windows of IEDs.

Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare X-linked genetic condition caused by a gain-of-function mutation of arginine vasopressin receptor 2 gene, AVPR2. We report the case of a male neonate diagnosed with NSIAD based on his DNA sequence of the AVPR2 gene and the clinical course. He demonstrated a complete correction of hyponatremia using oral urea. We suggest that (1) sequencing analysis of the AVPR2 gene ought to be done in newborns with prolonged euvolemic hyponatremia, hypo-osmolality, high urinary sodium and normal/low or undetectable AVP levels, and that (2) oral urea is a safe and effective treatment option in infants diagnosed with NSIAD until the patients are grown-up.

White blood cells (WBCs) and storage period are the main factors of transfusion reactions. In the present study, cytokine/chemokine concentrations after leukoreduction (LR) and irradiation (IR) in stored canine whole blood were measured. Red blood cell storage lesion caused by IR and LR were also compared. Blood samples from 10 healthy Beagles were divided into four groups (no treatment, LR-, IR-, and LR + IR-treated). Leukocytes were removed by filtration in the LR group and gamma radiation (25 Gy) was applied in the IR group. Immunologic factors (WBCs, interleukin-6 [IL-6], C-X-C motif chemokine ligand 8 [CXCL-8], and tumor necrosis factor-alpha) and storage lesion factors (blood pH, potassium, and hemolysis) were evaluated on storage days 0, 7, 14, 21, and 28. Compared to the treated groups, IL-6 and CXCL-8 concentrations during storage were significantly higher in the control (no treatment) group. LR did not show changes in cytokine/chemokine concentrations, and storage lesion presence was relatively mild. IR significantly increased CXCL-8 after 14 days of storage, but IR of leukoreduced blood did not increase CXCL-8 during 28 days of storage. Storage lesions such as hemolysis, increased potassium, and low pH were observed 7 days after IR and storage of blood, regardless of LR. IR of leukoreduced blood is beneficial to avoid immune reactions; however, storage lesions should be considered upon storage.
Blood Preservation ; Down-Regulation ; Erythrocytes ; Filtration ; Gamma Rays ; Hemolysis ; Hydrogen-Ion Concentration ; Immunologic Factors ; Interleukin-6 ; Leukocyte Reduction Procedures ; Leukocytes ; Necrosis ; Potassium ; Transfusion Reaction

Autosomal recessive spinocerebellar ataxia 20 (SCAR20; OMIM #616354) is a recently described disorder that is characterized by ataxia, intellectual disability, cerebellar atrophy, macrocephaly, coarse face, and absent speech. It is caused by lossof-function mutations in SNX14. To date, all cases with homozygous pathogenic variants have been identified in consanguineous families. This report describes the first Korean cases of SCAR20 family caused by homozygous variants in SNX14. Two siblings were referred to our clinic because of severe global developmental delay. They presented similar facial features, including a high forehead, long philtrum, thick lips, telecanthus, depressed nasal bridge, and broad base of the nose. Because the older sibling was unable to walk and newly developed ataxia, repeated brain magnetic resonance imaging (MRI) was performed at the age of 4 years, revealing progressive cerebellar atrophy compared with MRI performed at the age of 2 years.The younger sibling’s MRI revealed a normal cerebellum at the age of 2 years. Whole-exome sequencing was performed, and homozygous variants, such as c.2746-2A>G, were identified in SNX14 from the older sibling. Sanger sequencing confirmed homozygous SNX14 variants in the two siblings as well as a heterozygous variant in both parents. This report extends our knowledge of the phenotypic and mutational spectrum of SCAR20. We also highlight the importance of deep phenotyping for the diagnosis of SCAR20 in individuals with developmental delay, ataxia, cerebellar atrophy, and distinct facial features.

Objective: A deep learning-based classification system (DLCS) which uses structural brain magnetic resonance imaging (MRI) to diagnose Alzheimer’s disease (AD) was developed in a previous recent study. Here, we evaluate its performance by conducting a single-center, case-control clinical trial. Methods: We retrospectively collected T1-weighted brain MRI scans of subjects who had an accompanying measure of amyloid-beta (Aβ) positivity based on a 18F-florbetaben positron emission tomography scan. The dataset included 188 Aβ-positive patients with mild cognitive impairment or dementia due to AD, and 162 Aβ-negative controls with normal cognition. We calculated the sensitivity, specificity, positive predictive value, negative predictive value, and area under the receiver operating characteristic curve (AUC) of the DLCS in the classification of Aβ-positive AD patients from Aβ-negative controls. Results: The DLCS showed excellent performance, with sensitivity, specificity, positive predictive value, negative predictive value, and AUC of 85.6% (95% confidence interval [CI], 79.8–90.0), 90.1% (95% CI, 84.5–94.2), 91.0% (95% CI, 86.3–94.1), 84.4% (95% CI, 79.2–88.5), and 0.937 (95% CI, 0.911–0.963), respectively. Conclusion The DLCS shows promise in clinical settings where it could be routinely applied to MRI scans regardless of original scan purpose to improve the early detection of AD.

BACKGROUND AND PURPOSE: The functional recovery after the lateral medullary infarction (LMI) is usually good. Little is known about the prognostic factors associated with poor outcome following acute LMI. The aim of this study was to identify the factors associated with poor long-term outcome after acute LMI, based on experiences at a single center over 11 years. METHODS: A consecutive series of 157 patients with acute LMI who were admitted within 7 days after symptom onset was evaluated retrospectively. Clinical symptoms were assessed within 1 day after admission, and outcomes were evaluated over a 1-year period after the initial event. The lesions were classified into three vertical types (rostral, middle, and caudal), and the patients were divided into two groups according to the outcome at 1 year: favorable [modified Rankin Scale (mRS) score < or =1] and unfavorable (mRS score > or =2). RESULTS: Of the 157 patients, 93 (59.2%) had a favorable outcome. Older age, hypertension, dysphagia, requirement for intensive care, and pneumonia were significantly more prevalent in the unfavorable outcome group. The frequencies of intensive care (13%) and mortality (16.7%) were significantly higher in the rostral lesion (p=0.002 and p=0.002). Conditional logistic regression analysis revealed that older age and initial dysphagia were independently related to an unfavorable outcome at 1 year [odds ratio (OR)=1.04, 95% confidence interval (95% CI)=1.001-1.087, p=0.049; OR=2.46, 95% CI=1.04-5.84, p=0.041]. CONCLUSIONS: These results suggest that older age and initial dysphagia in the acute phase are independent risk factors for poor long-term prognosis after acute LMI.
Deglutition Disorders* ; Humans ; Hypertension ; Infarction* ; Critical Care ; Logistic Models ; Mortality ; Pneumonia ; Prognosis ; Retrospective Studies ; Risk Factors

Acute lymphocytic leukemia (ALL) is uncommon lymphoid malignancy in dogs, and its diagnosis is challenging. A 14-year-old spayed female mixed breed dog was transferred to a veterinary medical teaching hospital for an immediate blood transfusion. The dog showed lethargy, pale mucous membranes, and a weak femoral pulse. Complete blood count revealed non-regenerative anemia and severe leukopenia with thrombocytopenia. ALL was tentatively diagnosed based on the predominance of immature lymphoblasts on blood film examination. For confirmation of lymphoid malignancy, PCR for antigen receptor rearrangement (PARR) on a peripheral blood sample and flow cytometry analysis were performed after blood transfusion. Flow cytometry analysis revealed that lymphocyte subsets were of normal composition, but PARR detected a T-cell malignancy. The dog was diagnosed with ALL and survived 1 wk after diagnosis. In conclusion, after blood transfusion, flow cytometry was not a reliable diagnostic method for an ALL dog, whereas PARR could detect lymphoid malignancy. Our results suggest that PARR should be the first-line diagnostic tool to detect canine lymphoid malignancy after a blood transfusion.
Adolescent ; Anemia ; Animals ; Blood Cell Count ; Blood Transfusion* ; Diagnosis* ; Dogs* ; Female ; Flow Cytometry ; Hospitals, Teaching ; Humans ; Lethargy ; Leukopenia ; Lymphocyte Subsets ; Methods ; Mucous Membrane ; Polymerase Chain Reaction* ; Precursor Cell Lymphoblastic Leukemia-Lymphoma* ; Receptors, Antigen* ; T-Lymphocytes ; Thrombocytopenia