Pilar leiomyoma or piloleiomyoma is a benign neoplasm of the smooth muscle arising from the arrector pili muscle. It manifests as brown to red firm papulonodules with sites of predilection being the face, trunk, and extensor surfaces of the extremities. Histologically, the lesions exhibit ill-defined dermal tumors with interlacing fascicles of spindle cells. Some genodermatoses are characterized by the development of visceral tumors and cutaneous leiomyomatosis such as Reed’s syndrome, and hereditary leiomyomatosis and renal cell cancer (HLRCC). A 55-year-old male presented with reddish-brown papules and nodules on the face and upper back, accompanied by sharp episodic pain on the face. He had undergone nephrectomy for renal cancer 9 years ago, and his younger brother had similar cutaneous manifestation. Histopathologic findings were consistent with pilar leiomyoma, showing bundles of smooth muscle tumors in the dermis. Based on the clinical information including clinical features, past medical history, and family history, HLRCC was highly suspected.To confirm the diagnosis, whole exome sequencing was performed using peripheral blood, which revealed a novel point mutation (c.739G>A, p.Glu247Lys) in the fumarate hydratase (FH) gene. We describe a confirmed case of HLRCC, which is a genetic disorder with a potential to cause visceral cancers, which dermatologists might overlook as a benign condition.

Objective: Schizophrenia-spectrum disorders and posttraumatic stress disorder (PTSD) share common clinical manifestations, genetic vulnerability, and environmental risk factors. We aimed to conduct a systematic review and meta-analysis of the comorbid prevalence of PTSD among schizophrenia-spectrum disorders. Methods: We performed a meta-analysis to identify possible contributing factors to the heterogeneity among these studies. We systematically searched electronic databases with no restrictions on language of articles. Results: We extracted 24 samples (18 for current prevalence and 6 for lifetime prevalence) from 22 studies and used a random effects model to estimate the pooled prevalence of PTSD among schizophrenia-spectrum disorders. The current and life prevalence of comorbid PTSD was 10.6% (95% confidence interval [CI]=6.3%–17.3%) and 13.0% (95% CI=5.3%–28.6%), respectively. Studies assessing psychotic experiences/involuntary admission reported the highest prevalence of comorbid PTSD (57.1%, 95% CI=43.6%–59.7%), whereas those assessing various anxiety disorders reported the lowest prevalence (1.1%, 95% CI=1.0%–5.5%). Heterogeneities of the subgroup analysis by similar objectives were largely homogeneous (I2=7.1–34.1). In the qualitative assessment, only two studies (9.1%) were evaluated as having a low risk of bias. Conclusion Our results showed that a careful approach with particular attention to assessing PTSD is essential to reliably estimate the prevalence of PTSD comorbid with schizophrenia-spectrum disorders. The reason for the wide discrepancy in the prevalence of comorbid PTSD among the four groups of studies should be addressed in future research.

OBJECTIVES: To expand current knowledge on febrile seizures (FSs), the most common childhood seizure disorder, we investigated clinical features and risk factors of FS in the pediatric emergency department of a center in western Seoul. METHODS: Children with FS that visited the pediatric emergency room of the Ewha Womans University Medical Center from January to December 2014 were included in this study. A retrospective medical record review was conducted for a total of 404 seizure events relative to 265 patients. RESULTS: A total of 150 boys and 115 girls were enrolled. Children presenting their first FSs were 70.9% (n=188). Average age of FS onset was 28.9 months. Family history was reported in 95 children (36.8%) with higher relevance of paternal inheritance (44.2%, n=42/95). More than half of the seizures (56.4%, n=228/404) occurred on the first day of fever. The most common cause of fever was upper respiratory tract infection (65.8%, n=266/404). Children attending a daycare center had higher incidence of multiple FS compared to those cared for at home. Approximately one third of seizure events (31.7%, n=128/404) were admission cases, mainly because of prolonged fever. CONCLUSION: FS is a common neurologic disorder with relatively high admission rate among pediatric emergency department visits. Daycare attendance is associated with current increased incidence of multiple FS. Further study with long-term follow up is necessary to expand knowledge on improving clinical care strategy in FS.
Academic Medical Centers ; Child ; Emergencies* ; Emergency Service, Hospital* ; Epilepsy ; Female ; Fever ; Follow-Up Studies ; Humans ; Incidence ; Medical Records ; Nervous System Diseases ; Respiratory Tract Infections ; Retrospective Studies ; Risk Factors ; Seizures ; Seizures, Febrile* ; Seoul ; Wills

Staphylococcus saprophyticus is a common pathogen of acute urinary tract infection (UTI) in young females. However, S. saprophyticus bacteremia originating from UTI is very rare and has not been reported in Korea. We report a case of S. saprophyticus bacteremia from UTI in a 60-year-old female with a urinary stone treated successfully with intravenous ciprofloxacin, and review the cases of S. saprophyticus bacteremia reported in the literature. Thus, the microorganism may cause invasive infection and should be considered when S. saprophyticus is isolated from blood cultures in patients with UTI.
Bacteremia* ; Ciprofloxacin ; Female ; Humans ; Kidney Calculi ; Korea ; Middle Aged ; Staphylococcus saprophyticus* ; Staphylococcus* ; Urinary Calculi ; Urinary Tract Infections* ; Urinary Tract*

Many monogenic neurodevelopmental disorders have been newly identified in recent years owing to the rapid development of genetic sequencing technology. These include variants of the epigenetic machinery – up to 300 known epigenetic factors of which about 50 have been linked to specific clinical phenotypes. Chromodomain, helicase, DNA binding 1 (CHD1) is an ATP-dependent chromatin remodeler, known to be the causative gene of the autosomal dominant neurodevelopmental disorder Pilarowski-Bjornsson syndrome. Patients exhibit various degrees of global developmental delay, autism, speech apraxia, seizures, growth retardation, and craniofacial dysmorphism. We report the first case of Pilarowski-Bjornsson syndrome in Korea, due to a de novo missense variant of the CHD1 gene (c.862A>G, p.Thr288Ala) in a previously undiagnosed 17-yearold male. His infantile onset of severe global developmental delay, intellectual disability, speech apraxia, and failure to thrive are compatible with Pilarowski-Bjornsson syndrome. We also noted some features not previously reported in this syndrome such as skeletal dysplasia and ichthyosis. Further studies are needed to discover the specific phenotypes and pathogenic mechanisms behind this rare disorder.

CCCTC-binding factor (CTCF) is a transcriptional regulator that binds to a complex DNA motif in various orientations and plays a crucial role in regulating gene expression, chromatin restructuring, and developmental processes. Mutations in the CTCF are associated with neurodevelopmental disorders. Here we report the first Korean case with a de novo heterozygous variant in the CTCF (c.1025G>A; p.Arg342His). She showed global developmental delay, failure to thrive, and dysmorphic face, which are phenotypes consistent with previous reports in the autosomal dominant intellectual developmental disorder 21 (MIM 615502). She also showed clinical features not previously reported, such as antral web and tracheobronchomalacia.Our case follows suit and expands understanding of this rare disorder by reporting common features and, on the other hand, unreported concomitant congenital anomalies.

Purpose: Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of disorders characterized by impaired neuromuscular transmission. This study aims to provide the clue for early diagnosis and improved therapeutic strategies in CMS. Materials and Methods: Through the targeted panel sequencing including twenty CMS causative genes, eleven patients were genetically confirmed and enrolled in this study. A retrospective medical record review was carried out for the clinical and laboratory data analysis. Results: The age of patients ranged from 5 to 23 years, with the median age of 16 years. The peak age at onset of symptoms was the neonatal period. Seven out of the eleven patients were symptomatic at birth. The most commonly reported initial finding was generalized hypotonia with poor sucking and crying. Mean time to accurate diagnosis was 9.3±5.0 years. Total fifteen different variants in seven genes associated with CMS (DOK7, AGRN, RAPSN, CHRNE, COLQ, SLC5A7, and GFPT1) were identified. Conclusion We describe the clinical and genetic characteristics of CMS patients and treatment outcome in a single tertiary center. High clinical suspicion and timely molecular diagnosis is particularly important for the tailored therapy to maximize clinical improvement in CMS.

Topiramate is an antiepileptic drug widely used to treat various seizures, mood disorders and migraine based on its various pharmacological mechanisms. Even though nephrolithiasis is listed as one of its side effects, there have been no cases reporting nephrolithiasis caused by use of topiramate on Korean pediatric patients. Since the use of topiramate is increasing in many patients, the possibility of nephrolithiasis after the treatment needs to be considered. Here, we report our experience in correcting neprholithiasis by simply discontinuing topiramate without administering any additional treatments.
Anticonvulsants ; Fructose ; Humans ; Migraine Disorders ; Mood Disorders ; Nephrolithiasis ; Seizures

PURPOSE: The aim of this study was to evaluate the efficacy and safety of levetiracetam in children younger than 4 years with intractable epilepsy. METHODS: A retrospective analysis of pediatric epilepsy patients was performed. Data were obtained from the medical records of 30 patients (male 19, female 11) with intractable epilepsy, who were treated with levetiracetam. RESULTS: Seizure types were partial in 18, and generalized in 12. Fifteen patients had symptomatic etiologies. The median age of the patients at the time of levetiracetam administration was 26 months old (range: 4-47 months). The median starting dose was 13 mg/kg/ day, and the median maintenance dose was 52 mg/kg/day (range: 10-123 mg/kg/day). Ten (10/30, 33%) patients experienced more than 50% reduction in seizure frequency, and 4 (4/30, 13%) partial epilepsy patients became seizure-free. Eight partial epilepsy patients (44%) had more than 50% seizure reduction, while 2 patients (17%) with generalized epilepsy did. All of patients with infantile spasms and Lennox-Gastaut syndrome except one, had less than 50% reduction in seizure frequency. Adverse events reported in 8 patients (27%), included lethargy, behavioral problems, sleep disturbance, and seizure aggravation. CONCLUSIONS:Levetiracetam is effective in children aged 4 years or less with intractable epilepsy, and also seems to be safe to use in this age group.
Aged ; Anticonvulsants ; Child ; Child, Preschool ; Epilepsies, Partial ; Epilepsy ; Epilepsy, Generalized ; Female ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability ; Lethargy ; Medical Records ; Piracetam ; Retrospective Studies ; Seizures ; Spasms, Infantile

Menkes disease is an X-linked recessive copper transport disorder characterized by neurological deterioration, connective-tissue damage, and abnormal hair growth. It is caused by the mutation of the ATP7A gene. This report describes a four-month-old boy with neurological symptoms typical of Menkes disease plus unusual liver involvement. He developed seizures at three months of age and exhibited hypotonia, cephalhematoma, a sagging face, redundant and hypopigmented skin, and abnormal hair growth. In addition, he had unexplained hepatomegaly and high hepatic transaminase. We confirmed the diagnosis of Menkes disease by mutation analysis of the ATP7A gene. To exclude other possible causes for the hepatic abnormalities, a liver biopsy was performed, revealing intracytoplasmic cholestasis, focal spotty necrosis, and minimal lobular activity. The patient's liver involvement may be an underestimated complication of Menkes disease.
Biopsy ; Cholestasis ; Copper ; Hair ; Hepatomegaly ; Infant ; Infant, Newborn ; Liver ; Menkes Kinky Hair Syndrome ; Muscle Hypotonia ; Necrosis ; Seizures ; Skin ; Spasms, Infantile