• Pediatric Infection and Vaccine
• /
• v.16 no.1
• /
• pp.87-91
• /
• 2009

A 5-year-old boy was admitted to the hospital with a high fever and abnormal gait. Magnetic resonance imaging showed extensive swelling of the quadriceps and adductor muscles around the right hip and anterior thigh. A duplex scan demonstrated a thrombus from the external iliac vein to below the popliteal vein. The blood culture revealed Streptococcus pyogenes. The patient was immediately treated with antibiotics and anticoagulants. Follow-up sonography demonstrated complete disappearance of the venous thrombosis. We report a case of streptococcal myositis complicated by deep vein thrombosis.

• Journal of Genetic Medicine
• /
• v.18 no.1
• /
• pp.44-47
• /
• 2021

Cerebral creatine deficiency syndrome (CCDS) is a disorder where a defect is present in transport of creatine in the brain. Creatine plays an essential role in the energy metabolism of the brain. This is a genetic disorder, autosomal recessive or X linked, characterized by intellectual disability, speech and language delay, epilepsy, hypotonia, etc. Until recently very few number of cases have been reported. Here we report a case of 1.5-year-old boy who had epilepsy (epileptic spasm and generalized tonic clonic seizure), intellectual disability, microcephaly, hypotonia and speech delay. His magnetic resonance imaging of brain showed cortical atrophy and electroencephalography showed burst suppression pattern. The diagnosis was confirmed by clinical exome sequencing which showed novel mutation of SLC6A8+ in exon 9, suggestive of X linked recessive CCDS. The patient was then treated with glycine, L-arginine and creatine monohydrate with multiple antiepileptic drugs.

• Childhood Kidney Diseases
• /
• v.27 no.2
• /
• pp.133-138
• /
• 2023

Nutcracker syndrome (NCS) is a disease caused by compression of the left renal vein between the superior mesenteric artery and the abdominal aorta. Immunoglobulin A (IgA) nephropathy (IgAN) is characterized by the predominance of IgA deposits in the glomerular mesangial area. Hematuria and proteinuria can be present in both diseases, and some patients can be concurrently diagnosed with NCS and IgAN; however, a causal relationship between the two diseases has not yet been clarified. Here, we report two pediatric cases of NCS combined with IgAN. The first patient presenting with microscopic hematuria and proteinuria was diagnosed with NCS at the initial visit, and the second patient was later diagnosed with NCS when proteinuria worsened. Both patients were diagnosed with IgAN based on kidney biopsy findings and treated with angiotensin-converting enzyme inhibitors and immunosuppressants. A high index of suspicion and timely imaging or biopsy are essential for the proper management of NCS combined with glomerulopathy.

• Annals of Hepato-Biliary-Pancreatic Surgery
• /
• v.27 no.4
• /
• pp.329-341
• /
• 2023

Vascular tumors of the liver are mesenchymal lesions from endothelial cells. They range from common benign lesions such as haemangioma, intermediate tumors like Kaposi sarcoma, and perivascular epithelioid cell tumor to malignant tumors such as hepatic epithelioid hemangioendothelioma and hepatic angiosarcoma in adults. Pediatric vascular tumors of the liver also include benign, locally aggressive, borderline, and malignant masses with haemangiomas being the most common benign tumors and epithelioid hemangioendothelioma being an uncommon pediatric malignancy. The list of these lesions is completed by nodular regenerative hyperplasia, solitary fibrous tumour, and hepatic small vessel neoplasms (HSVN). Some of these tumors are uncommon and rare. This review article aimed to enumerate hepatic vascular tumors along with their imaging, histopathology, molecular findings for accurate diagnosis that can result in better management.

• Clinical and Experimental Pediatrics
• /
• v.59 no.3
• /
• pp.149-152
• /
• 2016

We report a case of a 5-year-old girl who developed left hemiparesis and left facial palsy, 6 days after the initiation of fever and respiratory symptoms due to pneumonia. Chest radiography, conducted upon admission, showed pneumonic infiltration and pleural effusion in the left lung field. Brain magnetic resonance imaging showed acute ischemic infarction in the right middle cerebral artery territory. Brain magnetic resonance angiography and transfemoral cerebral angiography revealed complete occlusion of the right middle cerebral artery. Mycoplasma pneumoniae infection was identified by a 4-fold increase in IgG antibodies to M. pneumoniae between acute and convalescent sera by enzyme-linked immunosorbent assay. Fibrinogen and D-dimer levels were elevated, while laboratory exams in order to identify other predisposing factors of pediatric stroke were all negative. This is the first reported pediatric case in English literature of a M. pneumoniae-associated cerebral infarction involving complete occlusion of the right middle cerebral artery.

• Journal of Korean Neurosurgical Society
• /
• v.58 no.2
• /
• pp.150-154
• /
• 2015

Cerebral venous sinus thrombosis (CVST) following a closed head injury in pediatric patients is a rare condition, and an early spontaneous recanalization of this condition is extremely rare. A 10-year-old boy was admitted with a mild, intermittent headache and nausea five days after a bicycle accident. The brain computed tomography showed an epidural hematoma at the right occipital area with pneumocephalus due to a fracture of the occipital skull bone. The brain magnetic resonance imaging and the magnetic resonance venography demonstrated a flow signal loss from the right sigmoid sinus to the right jugular vein. The diagnosis was sigmoid sinus thrombosis, so close observations were selected as a treatment for the patient because of his gradually improving symptoms; however, he complained of vomiting 14 days the after conservative treatment. The patient was readmitted for a further examination of his symptoms. The laboratory and the gastroenterological examinations were normal. Due to concern regarding the worsening of the sigmoid sinus thrombosis, the brain magnetic resonance venography was rechecked and it revealed the recanalization of the venous flow in the sigmoid sinus and in the jugular vein.

• Clinical and Experimental Pediatrics
• /
• v.59 no.sup1
• /
• pp.125-128
• /
• 2016

Harlequin syndrome, which is a rare disorder caused by dysfunction of the autonomic system, manifests as asymmetric facial flushing and sweating in response to heat, exercise, or emotional factors. The syndrome may be primary (idiopathic) with a benign course, or can occur secondary to structural abnormalities or iatrogenic factors. The precise mechanism underlying idiopathic harlequin syndrome remains unclear. Here, we describe a case of a 6-year-old boy who reported left hemifacial flushing and sweating after exercise. He had an unremarkable birth history and no significant medical history. Complete ophthalmological and neurological examinations were performed, and no other abnormalities were identified. Magnetic resonance imaging was performed to exclude lesions of the cerebrum and cervicothoracic spinal cord, and no abnormalities were noted. His final diagnosis was classic idiopathic harlequin syndrome. Herein, we report the first pediatric case of idiopathic harlequin syndrome in Korea.

• Clinical and Experimental Pediatrics
• /
• v.50 no.4
• /
• pp.323-327
• /
• 2007

Although most clinicians now agree that sinusitis can afflict children of all ages, appropriate diagnosis remain controversial. Sinusitis is one of the most challenging diagnoses for a clinician, because there is a lack of validated diagnostic criteria for acute rhinosinusitis. Symptoms generally include nasal congestion, purulent nasal discharge, and cough .The physical examination is often unsuccessful in confirming the diagnosis. If purulent discharge is seen oozing from the middle meatus, the diagnosis of acute rhinosinusitis is almost certain. Purulent drainage may also be seen in the posterior pharynx and accompanied by halitosis. Absence of light by transillumination may indicate acute rhinosinusitis. Imaging studies are not necessary to confirm the diagnosis of sinusitis in children younger than 6 years and should be used sparingly in children older than 6 years. Sinus radiographs still have several advantages over CT scanning including the relatively low cost and the ability to obtain films without the use of sedation in younger children. Positive findings of sinusitis on plain film include air-fluid levels, complete opacification, or mucosal thickening greater then 4 mm. The CT scan however, is significantly more sensitive then plain films in detecting these abnormalities. Although recovery of bacteria from a sinus aspiration is considered reference standard for diagnosis in pediatric rhinosinusitis, its routine used by pediatricians is not practical and therefore is not recommended.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• v.22 no.1
• /
• pp.80-85
• /
• 2019

Purpose: Abernethy malformation is a rare condition, which was first described in 1793 as a congenital extrahepatic porto-systemic shunt (CEPS) directing splanchnic blood flow into the inferior vena cava. Eighty cases have been published so far that reported CEPS, while in Korea, very few cases have been reported. Through this study, we present 6 cases of patients diagnosed with CEPS at Samsung Medical Center and compare these with other such cases published in France and China. Methods: We reviewed clinical, laboratory, and imaging data of 6 children with CEPS in our pediatric clinic between 2004 and 2017. Results: A total of 6 children with CEPS was included in this study, namely, one with type 1a, two with type 1b, and three with type 2 CEPS. The most common presenting symptom was gastrointestinal bleeding (50.0%). Therapeutic interventions included shunting vessel ligation (16.7%) in type 2 CEPS and liver transplantation (16.7%) in type 2 CEPS patient with suddenly developed hepatic encephalopathy. Conclusion: There is no consensus guideline for the optimal management of patients with CEPS. Large-sample studies regarding CEPS are needed to evaluate the characteristics of patients with CEPS and determine the treatment guideline for CEPS.

• Clinical and Experimental Pediatrics
• /
• v.62 no.2
• /
• pp.68-74
• /
• 2019

Purpose: To investigate the prevalence of occult spinal dysraphism (OSD) and subsequent neurosurgery in pediatric patients with isolated or combined dorsal midline cutaneous stigmata with or without other congenital malformations. Methods: We carried out a retrospective review of patients who underwent sonography or magnetic resonance imaging (MRI) for OSD because of suspicion of dorsal midline cutaneous stigmata (presumed to be a marker for OSD) between January 2012 and June 2017. Information about patient characteristics, physical examination findings, spinal ultrasound and MRI results, neurosurgical notes, and accompanying congenital anomalies was collected. Results: Totally 250 patients (249 ultrasound and one MRI screening) were enrolled for analysis. Eleven patients underwent secondary MRI examinations. The prevalence of OSD confirmed by an MRI was 2.4% (6 patients including one MRI screening). Five patients (2%) had tethered cord and underwent prophylactic neurosurgery, 3 of whom had a sacrococcygeal dimple and a fibrofatty mass. Prevalence of tethered cord increased as markers associated with a sacrococcygeal dimple increased (0.5% of the isolated marker group, 8.1% of the 2-marker group, and 50% of the 3-marker group). Incidence of OSD with surgical detethering in 17 other congenital anomaly patients was 11.8%, which was higher than the 1.3% in 233 patients without other congenital anomalies. Conclusion: Our results suggest that the presence of dorsal midline cutaneous stigmata, particularly fibrofatty masses, along with a sacrococcygeal dimple is associated with OSD or cord tethering requiring surgery. OSD should be suspected in patients with concurrent occurrence of other congenital anomalies.