Although the etiology of moyamoya disease (MMD) remains unknown, autoimmunity is one of the proposed pathogeneses. Unlike other autoimmune disorders that are associated with cerebral arteritis, concurrence of MMD and diabetes mellitus (DM) is rare. However, we encountered a patient with concurrent diabetic ketoacidosis (DKA) and acute ischemic stroke due to MMD. Our patient was diagnosed with glutamic acid decarboxylase antibody-positive type 2 DM (T2DM) based on laboratory and physical examination findings. Brain magnetic resonance images revealed an acute ischemic stroke in the left cerebral hemisphere and bilateral diffuse stenosis/occlusion in the middle cerebral artery and multiple collaterals. Thus, here, we report a patient with both T2DM and MMD who developed an acute ischemic stroke that was complicated by DKA.
Arteritis ; Autoimmunity ; Brain ; Cerebrum ; Diabetes Mellitus ; Diabetes Mellitus, Type 2 ; Diabetic Ketoacidosis* ; Glutamate Decarboxylase ; Humans ; Middle Cerebral Artery ; Moyamoya Disease* ; Physical Examination ; Stroke*

Purpose: Urinary tract infections (UTIs) are the most common and serious bacterialinfections in children. Therefore, early diagnosis of vesicoureteral reflux (VUR)for treatment planning and the identification of noninvasive markers that canpredict renal injury are important in patients with UTIs. We analyzed the clinicalfeatures of pediatric UTIs commonly encountered by general practitioners and reinterpretedthe blood tests and imaging findings to identify the important clinicalpredictive markers of VUR in order to selectively perform VCUG. Methods: This retrospective study was performed among 183 children diagnosedwith a UTI or acute pyelonephritis. Results: The most significant predictor of high grade and bilateral VUR identifiedusing area under the curve analyses was hydronephrosis on kidney ultrasoundimages with renal cortical defects on dimercaptosuccinic acid (DMSA) kidney scansimultaneously, followed by hydronephrosis only on kidney ultrasound. Conclusion The presence of hydronephrosis on kidney ultrasound images or corticaldefects or asymmetric kidneys on the DMSA kidney scans can be predictivemarkers of VUR, reducing the need for VCUG. Our study can thus help minimizethe exposure to radiation among patients through selective VCUG.

Background: and Purpose: Cerebral visual impairment (CVI) is an underdiagnosed condition in children, and its assessment tools have focused on older children. We aimed to develop a parental questionnaire for cerebral visual impairment (PQCVI) for screening CVI in young children. Methods: The PQCVI comprised 23 questions based on a modified version of Houliston and Dutton’s questionnaire for older children. The PQCVI with neurocognitive function tests was applied to 201 child–parent pairs with typically developing children younger than 72 months (age 32.4±20.1 months, mean±standard deviation). The children were classified into six age groups. The normative data, cutoff scores, and internal reliability were assessed and item analysis was performed. We referred to the total score for all questions as the cerebral visual function (CVF) score. Results: The normative data showed that the CVF score and the scores corresponding to ventral-stream and dorsal-stream visual functions plausibly increased with age. The scores rapidly reached 90% of their maximum values up to the age of 36 months, after which they increased slowly. Cronbach’s alpha for all questions across all age groups was 0.97, showing excellent consistency. The item difficulty and item discrimination coefficients showed that the questions were generally adequate for this age stage. Conclusions The PQCVI items produced reliable responses in children younger than 72 months. The rapid increase in scores before the age of 3 years supports the importance of early identification of CVI. Following additional clinical verification, the PQCVI may be useful for CVI screening.

Background: and Purpose: Cerebral visual impairment (CVI) is an underdiagnosed condition in children, and its assessment tools have focused on older children. We aimed to develop a parental questionnaire for cerebral visual impairment (PQCVI) for screening CVI in young children. Methods: The PQCVI comprised 23 questions based on a modified version of Houliston and Dutton’s questionnaire for older children. The PQCVI with neurocognitive function tests was applied to 201 child–parent pairs with typically developing children younger than 72 months (age 32.4±20.1 months, mean±standard deviation). The children were classified into six age groups. The normative data, cutoff scores, and internal reliability were assessed and item analysis was performed. We referred to the total score for all questions as the cerebral visual function (CVF) score. Results: The normative data showed that the CVF score and the scores corresponding to ventral-stream and dorsal-stream visual functions plausibly increased with age. The scores rapidly reached 90% of their maximum values up to the age of 36 months, after which they increased slowly. Cronbach’s alpha for all questions across all age groups was 0.97, showing excellent consistency. The item difficulty and item discrimination coefficients showed that the questions were generally adequate for this age stage. Conclusions The PQCVI items produced reliable responses in children younger than 72 months. The rapid increase in scores before the age of 3 years supports the importance of early identification of CVI. Following additional clinical verification, the PQCVI may be useful for CVI screening.

BACKGROUND: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare inherited disorder characterized by infantile-onset macrocephaly, slow neurologic deterioration, and seizures. Mutations in the causative gene, MLC1, are found in approximately 75% of patients and are inherited in an autosomal recessive manner. We analyzed MLC1 mutations in five unrelated Korean patients with MLC. METHODS: Direct Sanger sequencing was used to identify MLC1 mutations. A founder effect of the p.Ala275Asp variant was demonstrated by haplotype analysis using single-nucleotide polymorphic (SNP) markers. Multiple ligation-dependent probe amplification (MLPA) and comparative genomic hybridization plus SNP array were used to detect exonic deletions or uniparental disomy (UPD). RESULTS: The most prevalent pathogenic variant was c.824C>A (p.Ala275Asp) found in 7/10 (70%) alleles. Two pathogenic frameshift variants were found: c.135delC (p.Cys46Alafs*12) and c.337_353delinsG (p.Ile113Glyfs*4). Haplotype analysis suggested that the Korean patients with MLC harbored a founder mutation in p.Ala275Asp. The p.(Ile113Glyfs*4) was identified in a homozygous state, and a family study revealed that only the mother was heterozygous for this variant. Further analysis of MLPA and SNP arrays for this patient demonstrated loss of heterozygosity of chromosome 22 without any deletion, indicating UPD. The maternal origin of both chromosomes 22 was demonstrated by haplotype analysis. CONCLUSIONS: This study is the first to describe the mutational spectrum of Korean patients with MLC, demonstrating a founder effect of the p.Ala275Asp variant. This study also broadens our understanding of the mutational spectrum of MLC1 by demonstrating a homozygous p.(Ile113Glyfs*4) variant resulting from UPD of chromosome 22.
Alleles ; Chromosomes, Human, Pair 22* ; Comparative Genomic Hybridization ; Exons ; Founder Effect ; Haplotypes ; Humans ; Leukoencephalopathies* ; Loss of Heterozygosity ; Megalencephaly ; Mothers ; Seizures ; Uniparental Disomy*