Kernicterus is a neurologic syndrome, resulting from the preferential deposition of unconjugated bilirubin in the globus pallidus, subthalamus, hippocampus, and brain stem. The characteristic finding of kernicterus revealed by T2-weighted MR imaging is irreversible, bilaterally symmetrical high signal intensities in the globus pallidus. We report an atypical case of kernicterus, in which follow-up MR imaging of the globus pallidus demonstrated reversible signal intensity.
Bilirubin ; Brain Stem ; Follow-Up Studies ; Globus Pallidus ; Hippocampus ; Humans ; Infant, Newborn ; Kernicterus* ; Magnetic Resonance Imaging* ; Subthalamus

No abstract available.

Intermediate pilomyxoid tumors (IPTs) were defined by the presence of some features typical of pilomyxoid astrocytoma (PMA) in combination with features that could be considered more consistent with pilocytic astrocytoma (PA). PMA is rare in the cerebellum. And, IPT in the cerebellum is rarer than PMA. To our knowledge, only 2 reports have described IPT in the cerebellum. A 5-year-old boy had nausea and vomiting. Computed tomography revealed a large, round, low-density tumor in the cerebellar vermis area. On enhanced magnetic resonance imaging (MRI), the tumor showed inhomogeneous diffuse enhancement; the central portion showed homogenous enhancement, while the peripheral portion showed inhomogeneous enhancement. The patient underwent a midline suboccipital craniotomy, and gross total resection was performed. The tumor was gray-colored, rubbery hard, and severely hemorrhagic with a clear boundary. On pathologic examination, the combined features of both PA and PMA were retrospectively indicative of an IPT. The patient was symptom-free for 18 months, with no evidence of tumor recurrence on MRI. More observation and further studies on PMA and IPT are required to determine the most appropriate treatment for these tumors.
Astrocytoma* ; Cerebellar Vermis ; Cerebellum* ; Child, Preschool* ; Craniotomy ; Humans ; Magnetic Resonance Imaging ; Male* ; Nausea ; Recurrence ; Retrospective Studies ; Vomiting

BACKGROUND AND OBJECTIVES: Pulmonary thromboembolism (PTE) after surgery is one of the rare but fatal complications causing sudden respiratory failure. This study was performed to evaluate PTE after head and neck surgery and to report our recent experience with review of the literature. SUBJECTS AND METHOD: We retrospectively analyzed 1096 patients who underwent head and neck surgery from January 2011 to June 2013 in a tertiary hospital. We evaluated the incidence and characteristics of PTE and risk factors of PTE such as smoking, body mass index, comorbidities, coronary artery disease, coagulation disorder and Caprini risk assessment model. RESULTS: PTE occurred in five of 1096 patients (0.46%; two were male and three were female, with a mean age of 56.2 year). All patients with PTE were categorized into high risk group of PTE by Caprini model. The mean Caprini risk score were 6.6 and 4.6 in the PTE patients and non-PTE patients, respectively. The significant risk factors were long operative time, cancer patients and high Caprini score in this study. One PTE patient underwent cardiopulmonary resuscitation due to respiratory arrest, afterwards received thromboembolectomy by thoracotomy. Four patients received anticoagulation therapy only. CONCLUSION: Risk stratification for PTE is necessary in patients who receive long operation for head and neck cancer or have high Caprini score.
Body Mass Index ; Cardiopulmonary Resuscitation ; Comorbidity ; Coronary Artery Disease ; Female ; Head and Neck Neoplasms ; Head* ; Humans ; Incidence ; Male ; Neck* ; Operative Time ; Pulmonary Embolism* ; Respiratory Insufficiency ; Retrospective Studies ; Risk Assessment ; Risk Factors ; Smoke ; Smoking ; Tertiary Care Centers ; Thoracotomy ; Venous Thrombosis

Branchio-oto-renal (BOR) syndrome is a clinically heterogeneous autosomal dominant form of syndromic hearing loss characterized by variable hearing impairment, malformations of the pinnae, the presence of branchial arch remnants, and various renal abnormalities. BOR syndrome is caused by mutations in EYA1 and SIX1, which are critical to organogenesis and are expressed together in developing otic, branchial, and renal tissue. Branchio-otic (BO) syndrome comprises branchial fistulas and preauricular pits, but lacks renal anomalies. We present a case of BO syndrome in 30year-old man with a review of the literature.
Branchial Region ; Branchio-Oto-Renal Syndrome ; Branchioma ; Fistula ; Hearing Loss ; Organogenesis

No abstract available.
Hemangiopericytoma ; Nasolabial Fold

BACKGROUND: There are several different opinions regarding the improvements seen on the transverse plane after soft tissue surgery alone in independently ambulant patients with cerebral palsy. We performed a meta-analysis using data from previous studies to identify the effects of soft tissue surgery alone on pelvic and hip rotation in children with spastic diplegia. METHODS: We conducted a pilot study to evaluate the improvement in pelvic and hip rotation after muscle-tendon lengthening surgery in children with spastic diplegia. We also searched EMBASE and PubMed and selected 2 previous studies using the same test conditions with kinematic data on the pelvis and hip joints. A meta-analysis of the results of these 3 studies, including this pilot study, was then performed. RESULTS: The meta-analysis results showed an external rotation decrease (p = 0.005) in the mean difference of pelvic rotation of -3.61 (95% confidence interval [CI], -6.13 to -1.09) and a mean difference in hip rotation of 6.60 (95% CI, 3.34 to 9.86), indicating a significant increase in the hip external rotation after surgery (p < 0.001). CONCLUSIONS: In independently community-ambulant pediatric patients with spastic diplegia, pelvic retraction and hip internal rotation could be improved after soft tissue surgery.
Cerebral Palsy* ; Child ; Hip Joint ; Hip* ; Humans ; Muscle Spasticity* ; Pelvis ; Pilot Projects

BACKGROUND: There are several different opinions regarding the improvements seen on the transverse plane after soft tissue surgery alone in independently ambulant patients with cerebral palsy. We performed a meta-analysis using data from previous studies to identify the effects of soft tissue surgery alone on pelvic and hip rotation in children with spastic diplegia. METHODS: We conducted a pilot study to evaluate the improvement in pelvic and hip rotation after muscle-tendon lengthening surgery in children with spastic diplegia. We also searched EMBASE and PubMed and selected 2 previous studies using the same test conditions with kinematic data on the pelvis and hip joints. A meta-analysis of the results of these 3 studies, including this pilot study, was then performed. RESULTS: The meta-analysis results showed an external rotation decrease (p = 0.005) in the mean difference of pelvic rotation of -3.61 (95% confidence interval [CI], -6.13 to -1.09) and a mean difference in hip rotation of 6.60 (95% CI, 3.34 to 9.86), indicating a significant increase in the hip external rotation after surgery (p < 0.001). CONCLUSIONS: In independently community-ambulant pediatric patients with spastic diplegia, pelvic retraction and hip internal rotation could be improved after soft tissue surgery.
Cerebral Palsy* ; Child ; Hip Joint ; Hip* ; Humans ; Muscle Spasticity* ; Pelvis ; Pilot Projects

PURPOSE: Febrile seizures affect 2-5% of all children younger than 6 years old. A small proportion of children with febrile seizures later develop epilepsy. Muations in the voltage-gated sodium channel subunit gene SCN1A have been associated with febrile seizures(FSs) in autosomal dominant generalized epilepsy with febrile seizures plus (GEFS+) families and severe myoclonic epilepsy of infancy. The present study assessed the role of SCN1A in familial typical FSs. METHODS: 22 GEFS+ and 62 FSs were selected throughout a collaborative study of Catholic Child Neurology Research Group. The exon 9 region of SCN1A was screened by DHPLC. DNA fragments showing variant chromatograms were subsequently sequenced. RESULTS: A total 84 individuals(22 GEFS+ and 62 FSs) was screened for mutations. Among 22 GEFS+ and 62 FSs patients, five and forty nine showed simple FSs, and seventeen and thirteen had complex FSs. 0% and 8.3% were younger than 12 months old, 22.7% and 46.8% were between 12 and 35 months old, 18.2% and 41.9% were between 36 and 83 months old, and 59.1% and 0% were older than 84 months old. The ratios of male to female were 1.75:1 and 1.82:1. Mutational analysis detected no mutation of SCN1A. Mutational analysis detected eleven silent exonic polymorphisms at G1212A in exon 9 and forty two polymorphisms on intron 9, and 23 intron A/As in 73 homozygote samples. There were no significant differences in allelic frequencies(G/G intron A/A or G/G, G/G intron G/A, G/A intron G/A, reported G/A) of G1212A in SCN1A-exon 9 between the patients with GEFS+ and FSs(31.8% vs. 32.3%, 54.5% vs. 54.8%, 9% vs. 6.5%, 4.5% vs. 6.5%). CONCLUSION: Although our study demonstrated that SCN1A is not frequently involved in GEFS+ and FSs, further systemic research would be necessary.
Child ; Child, Preschool ; DNA ; Epilepsies, Myoclonic ; Epilepsy ; Epilepsy, Generalized ; Exons ; Female ; Homozygote ; Humans ; Infant ; Introns ; Male ; Neurology ; Polymorphism, Single Nucleotide* ; Seizures, Febrile ; Sodium Channels

PURPOSE: Febrile seizures affect 2-5% of all children younger than 6 years old. A small proportion of children with febrile seizures later develop epilepsy. Muations in the voltage-gated sodium channel subunit gene SCN1A have been associated with febrile seizures(FSs) in autosomal dominant generalized epilepsy with febrile seizures plus (GEFS+) families and severe myoclonic epilepsy of infancy. The present study assessed the role of SCN1A in familial typical FSs. METHODS: 22 GEFS+ and 62 FSs were selected throughout a collaborative study of Catholic Child Neurology Research Group. The exon 9 region of SCN1A was screened by DHPLC. DNA fragments showing variant chromatograms were subsequently sequenced. RESULTS: A total 84 individuals(22 GEFS+ and 62 FSs) was screened for mutations. Among 22 GEFS+ and 62 FSs patients, five and forty nine showed simple FSs, and seventeen and thirteen had complex FSs. 0% and 8.3% were younger than 12 months old, 22.7% and 46.8% were between 12 and 35 months old, 18.2% and 41.9% were between 36 and 83 months old, and 59.1% and 0% were older than 84 months old. The ratios of male to female were 1.75:1 and 1.82:1. Mutational analysis detected no mutation of SCN1A. Mutational analysis detected eleven silent exonic polymorphisms at G1212A in exon 9 and forty two polymorphisms on intron 9, and 23 intron A/As in 73 homozygote samples. There were no significant differences in allelic frequencies(G/G intron A/A or G/G, G/G intron G/A, G/A intron G/A, reported G/A) of G1212A in SCN1A-exon 9 between the patients with GEFS+ and FSs(31.8% vs. 32.3%, 54.5% vs. 54.8%, 9% vs. 6.5%, 4.5% vs. 6.5%). CONCLUSION: Although our study demonstrated that SCN1A is not frequently involved in GEFS+ and FSs, further systemic research would be necessary.
Child ; Child, Preschool ; DNA ; Epilepsies, Myoclonic ; Epilepsy ; Epilepsy, Generalized ; Exons ; Female ; Homozygote ; Humans ; Infant ; Introns ; Male ; Neurology ; Polymorphism, Single Nucleotide* ; Seizures, Febrile ; Sodium Channels