A Case of Moyamoya Disease in Morning Glory Syndrome

Purpose@#We report a diagnosis of Moyamoya disease based on brain magnetic resonance imaging (MRI) and brain magnetic resonance angiography (MRA) performed in a child diagnosed with morning glory syndrome.Case summary: A 6-year-old boy visited the hospital with a chief complaint of exodeviation of his left eye that started at 1 year of age. The corrected visual acuity was 20/30 in the right eye and 20/400 in the left. The Krimsky test showed exotropia of 35 prism diopters (PD) for near vision and 30 PD for distance. Fundus photography showed an enlarged optic disc with funnel-shaped excavation in the left eye. With a diagnosis of morning glory syndrome accompanied by exotropia, the patient underwent brain MRI and brain MRA. The patient had no neurological symptoms such as headache and muscle weakness. Moyamoya disease was diagnosed, as brain MRI and MRA showed tiny tortuous vessels forming collateral vessels from the lenticulostriatal arteries, left posterior cerebral artery, and left middle meningeal artery, which originated from the external carotid artery. @*Conclusions@#Moyamoya disease can occur in children with morning glory disease. Brain MRI and MRA can help to diagnose Moyamoya disease. Caution is needed because transient ischemic attack, cerebral infarction, and cerebral hemorrhage may occur in patients with Moyamoya disease.

Scrotal Abscess Following Emergency Laparotomy in a Preterm Infant / 계명의대학술지

We report one rare case of scrotal abscess following an emergency laparotomy in a preterm infant. A male infant was born by cesarean section due to twin pregnancy at 34 weeks of gestation. He underwent emergency laparotomy for pneumoperitoneum caused by a gastric perforation. At 10 days after the surgery, he presented with bilateral scrotal swelling and ill-defined infiltrating lesions in both testicles. Ultrasound confirmed both patent processus vaginalis. Scrotal incision revealed a yellow mass attaching to both testicles, which was finally diagnosed as abscesses. This case highlights the importance of considering scrotal abscess as a potential complication following intestinal perforation and postoperative intraperitoneal infections in newborn infants.

The First Korean Case Report of Siblings with 12q24.22q24.33 Duplication / 계명의대학술지

Live-born cases of partial trisomy 12q are rare, and only a few fetuses with this unbalanced translocation have survived to term. To our knowledge, only about 40 patients have been reported as having 12q duplication, and among them are no Korean reports. Here, we report the first Korean case of siblings with a 12q24.22q24.33 duplication. An 11-year-old boy visited our clinic for short stature. He was born small for his gestational age and had distinctive facial features, a history of surgery for anorectal malformation, psychomotor delay, intellectual disabilities, and attention-deficit/hyperactivity disorder (ADHD). He had an older sister with similar clinical features. The chromosomal microarray of the patient and his sister showed identical results: a 16.2 Mb duplication of 12q24.22q24.33. They had an identical cutoff point, but their symptoms were not. Symptoms common to both included growth retardation, psychomotor delay, intellectual disability, ADHD, and small for their gestational age.

Cardiac Arrest as the Initial Presentation of Leigh Syndrome Associated with Novel NDUFS1 Mutation / 계명의대학술지

Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder. Over 75 pathogenic mutations have been identified in both the mitochondrial and nuclear genomes. Leigh syndrome can be diagnosed based on clinical manifestations, physical and biochemical examinations, and brain magnetic resonance imaging results. Patients with Leigh syndrome classically present in early childhood with developmental regression, ataxia, and hypotonia with subsequent respiratory and brainstem dysfunction. However, the clinical course of Leigh syndrome is heterogeneous with significant differences in age of onset, symptom severity and prognosis. Here, we report a case of Leigh syndrome with cardiac arrest as initial presentation, and identified the novel mutation of NDUFS1 gene.

Pneumococcal Cerebrospinal Meningitis: A Rare Complication of Pediatric Temporal Bone Fracture / 계명의대학술지

Meningitis is a rare and potentially serious complication in children with temporal bone fractures. We present an unusual case of a 7-year-old girl with pneumococcal meningitis complicated by cerebrospinal fluid (CSF) leakage following transverse fracture in the left temporal bone. She had an otorrhea resolved spontaneously in the early stage of hospitalization. At 4 days post-discharge, the patient returned with headache, fever, neck stiffness, voiding difficulty, and bilateral abducens nerve palsy. Magnetic resonance images demonstrated an intense uniform contrast enhancement in the cerebral cisterns and the sacral nerve roots. Laboratory analysis and culture diagnosed meningitis caused by Streptococcus pneumonia. She was discharged home after getting intravenous ceftriaxone for 5 weeks. Follow-up for the patient required constant vigilance and included a multidisciplinary approach. At 7 months after head trauma, the child was well with no neurological and auditory deficits. This case illustrates a previously unreported complication in pediatric patient of temporal bone fracture associated with CSF otorrhea.

Treatment of Primary Cerebral Ventricular Abscess: Use of Dual Catheters and Ommaya Reservoir / 계명의대학술지

An isolated ventricular abscess is a rare event, and its treatment is a real challenge. We report such case in a 52-year-old man that was successfully managed with aid of occipital approach and ventricular access device. This patient presented with the chief complaint of headache and fever of 3-day duration. Magnetic resonance imaging showed fluid-filled layering within the posterior horns of the lateral ventricle without contrast enhancement. Blood test and cerebrospinal fluid analysis was consistent with acute bacterial ventriculitis. Using stereotactic technique guided by electromagnetic navigation, the occipital horns were bilaterally targeted and catheterized, and then the abscess and debris was evacuated. The Ommaya reservoir implanted at the left entry was intermittently punctured for preventing the recollection. The pus culture was positive for Streptococcus pneumoniae. He received an antibiotic therapy and the reservoir aspiration leading to rapid recovery and remission of clinical manifestations. There was no evidence of the recurrence within the ventricles on follow-up scans after discharging. This modification, occipital approach and reservoir placement, is effective treatment for improving the cure rate in the selected cases with intraventricular cerebral empyema.

Clinical Usefulness of Simultaneous Electroencephalography and Functional Magnetic Resonance Imaging in Children With Focal Epilepsy

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.

Clinical Spectrum of Neonatal Strokes / 대한소아신경학회지

PURPOSE: Neonatal strokes are common and may be associated with various complications. However, few studies have been conducted on the clinical spectrum in Korea. This study aimed at investigating the clinical presentation and neurological outcome of neonatal strokes. METHODS: Twenty-seven neonates with neonatal stroke were enrolled in the neonatal intensive care unit at Kyungpook National University Hospital from January 2000 to December 2009. Their medical records and neuroradiological findings were retrospectively reviewed. RESULTS: The mean age of the subjects was 4+/-5.6 days. Sixteen patients were full term, nine were prematurite and six had low birth weights. The onset of symptoms was mostly within first week (85.2%) of life, especially in the first day of life (51.9%). The most common symptom was seizure (40.7%), which were focal clonic (38.5%) or multifocal clonic (38.5%). Nine patients showed abnormal EEG findings. Thirteen patients had subdural hemorrhage, seven showed intraventricular hemorrhage, and three revealed cerebral infarction. Among 12 patients who followed-up for one year, four had mild neurologic dysfunction and two had severe impairment. CONCLUSION: We found that the onset of symptom in neonatal strokes was mostly within the first day of life, and the most common symptom was focal seizure. We, therefore recommend that neuroimaging be done when newborns have seizures within their first week of life. However, further studies are needed to elucidate this further.

Diagnostic effectiveness of fine needle aspiration cytology on pediatric cervical lymphadenopathy / 소아과

PURPOSE: There are few reports in Korean literature on the diagnostic efficacy of fine needle aspiration cytology(FNAC) for pediatric cervical lymphadenopathy. This study examined the diagnostic value of FNAC on cervical lymphadenopathy in children. METHODS: Data from 57 pediatric patients(aged 0.3 to 14 years) who underwent FNAC due to cervical lymphadenopathy between January 2001 and March 2005 was reviewed retrospectively. RESULTS: Reactive cervical lymphadenitis was the most common result of the FNAC(52.5 percent). Malignant disease were revealed in 14 percent of all cases. The sensitivity, specificity was 86 percent and 96 percent, respectively. The positive and negative predictive values for malignant disease was 75 percent and 98 percent, respectively. There were two false-positive cases on FNAC; one case of Langerhans cell histiocytosis, and another with infectious mononucleosis. A false-negative case on FNAC was found to be acute lymphocytic leukemia. In seven cases(12 percent), the final diagnosis was confirmed by an open biopsy after the FNAC. There were four FNAC cases where the specimen was not satisfactory for making a diagnosis(7 percent). There were no serious complications of the FNAC procedure. CONCLUSION: FNAC had a high diagnostic efficacy for evaluating children with cervical lymphadenopathy.

Dumping Syndrome in a Child with Gastrojejunal Tube Feeding / 대한소아소화기영양학회지

Dumping syndrome is a known complication of gastric surgery in adults, but a very rare disease in the pediatric population. We report on a case of dumping syndrome in a 19-month-old child, who underwent gastrojejunal feeding tube insertion for the treatment and prevention of gastroesophageal reflux and frequent aspiration pneumonia. At 17 months of age, 2 months after the beginning of gastrojejunal tube feeding, postprandial diaphoresis, palpitation, lethargy, bloating, and diarrhea occurred, and a single episode of convulsion with hypoglycemia were noted. Early and late dumping syndrome was confirmed by an abnormal oral glucose tolerance test with early onset hyperglycemia followed by delayed onset hypoglycemia. Diet therapy including uncooked corn starch then improved the postprandial diaphoresis, abnormal glucose levels, and her nutritional status. We conclude that dumping syndrome may be considered as a complication of gastrojejunal tube feeding in a child.

A Case of Neonatal Cholestasis Associated with Congenital Adrenal Hyperplasia / 대한소아소화기영양학회지

It has been suggested that cortisol deficiency may be responsible for the cholestasis. Although congenital hypopituitarism was reported as a possible cause of neonatal cholestasis, congenital adrenal hyperplasia with neonatal cholestasis is a very rare report in the literature. We experienced a case presenting with neonatal cholestasis associated with congenital adrenal hyperplasia. This case provides a clinical evidence supporting the notion that cortisol has an important physiological role in bile acid synthesis and transport.

A Case of Weaver Syndrome / 소아과

Weaver syndrome is a very rare overgrowth syndrome with accelerated skeletal maturation, unusual facies and clinodactyly. We experienced an extremely rare case of Weaver syndrome in Korea. The clinical manifestations were macrocephaly, unusal facies, simian crease, clinodactyly, decreased muscle tone, accelerated bone age and congenital heart diseases. We report this with a brief review of related literature.