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Korean Journal of Pediatrics

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https://www.readbyqxmd.com/read/28018472/concurrency-of-guillain-barre-syndrome-and-acute-transverse-myelitis-a-case-report-and-review-of-literature
#1
Orkun Tolunay, Tamer Çelik, Ümit Çelik, Mustafa Kömür, Zeynep Tanyeli, Abdurrahman Sönmezler
Guillain-Barré syndrome and acute transverse myelitis manifest as demyelinating diseases of the peripheral and central nervous system. Concurrency of these two disorders is rarely documented in literature. A 4-year-old girl presenting with cough, fever, and an impaired walking ability was admitted to hospital. She had no previous complaints in her medical history. A physical examination revealed lack of muscle strength of the lower extremities and deep tendon reflexes. MRI could not be carried out due to technical problems; therefore, both Guillain-Barré syndrome and acute transverse myelitis were considered for the diagnosis...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018471/paroxysmal-kinesigenic-dyskinesia-in-a-patient-with-a-prrt2-mutation-and-centrotemporal-spike-discharges-on-electroencephalogram-case-report-of-a-10-year-old-girl
#2
Sun Young Seo, Su Jeong You
Coexistence of paroxysmal kinesigenic dyskinesia (PKD) with benign infantile convulsion (BIC) and centrotemporal spikes (CTS) is very rare. A 10-year-old girl presented with a 3-year history of frequent attacks of staggering while laughing and of suddenly collapsing while walking. Interictal electroencephalogram (EEG) revealed bilateral CTS, but no changes in EEG were observed during movement. The patient's medical history showed afebrile seizures 6 months after birth, while the family history showed that the patient's mother and relatives on the mother's side had similar dyskinesia...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018470/megalencephaly-capillary-malformation-polymicrogyria-syndrome-the-first-case-report-in-korea
#3
Yeon-Chul Choi, Mi-Sun Yum, Min-Jee Kim, Yun-Jung Lee, Tae-Sung Ko
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly. Herein, we report a female infant case that satisfies the recently proposed criteria of MCAP and describe the distinctive neuroradiological and morphological features...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018469/type-i-chiari-malformation-presenting-orthostatic-syncope-who-treated-with-decompressive-surgery
#4
Hyun-Seung Shin, Jeong A Kim, Dong-Seok Kim, Joon Soo Lee
Chiari malformations are a congenital anomaly of the hindbrain. The most common, Chiari malformation type I (CM-I), is characterized by herniation of the cerebellar tonsils extending at least 3 mm below the plane of the foramen magnum. Consequently, CM-I is associated with hydrocephalus and symptoms involving compression of the cervicomedullary junction by ectopic tonsils. Several studies have reported the clinical symptoms associated with CM-I, including suboccipital headache, weakness in the upper extremities, facial numbness, loss of temperature sensation, ataxia, diplopia, dysarthria, dysphagia, vomiting, vertigo, nystagmus, and tinnitus...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018468/posterior-reversible-encephalopathy-syndrome-caused-by-presumed-takayasu-arteritis
#5
Ki Wuk Lee, Sang Taek Lee, Heeyeon Cho
Takayasu arteritis (TA) is a chronic inflammatory disease of unknown etiology that affects mainly the aorta, main aortic branches, and pulmonary arteries. Diverse neurological manifestations of TA have rarely been reported in children. Posterior reversible encephalopathy syndrome (PRES) is a neuroradiological condition that presents with headache, seizure, visual disturbances, and characteristic lesions on imaging. Inflammatory condition and severe hypertension in TA can cause PRES. We report of a 5-year-old girl with presumed TA who presented with PRES and chronic total occlusion in the renal artery...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018467/a-rare-case-of-dysembryoplastic-neuroepithelial-tumor-combined-with-encephalocraniocutaneous-lipomatosis-and-intractable-seizures
#6
Jee-Yeon Han, Mi-Sun Yum, Eun-Hee Kim, Seokho Hong, Tae-Sung Ko
Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome that affects ectomesodermal tissues (skin, eyes, adipose tissue, and brain). The neurologic manifestations associated with ECCL are various including seizures. However, ECCL patients very rarely develop brain tumors that originate from the neuroepithelium. This is the first described case of ECCL in combination with dysembryoplastic neuroepithelial tumor (DNET) that presented with intractable seizures. A 7-year-old girl was admitted to our center because of ECCL and associated uncontrolled seizures...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018466/a-young-child-of-anti-nmda-receptor-encephalitis-presenting-with-epilepsia-partialis-continua-the-first-pediatric-case-in-korea
#7
Eun-Hee Kim, Yeo Jin Kim, Tae-Sung Ko, Mi-Sun Yum, Jun Hwa Lee
Anti-N-methyl D-aspartate receptor (anti-NMDAR) encephalitis, recently recognized as a form of paraneoplastic encephalitis, is characterized by a prodromal phase of unspecific illness with fever that resembles a viral disease. The prodromal phase is followed by seizures, disturbed consciousness, psychiatric features, prominent abnormal movements, and autonomic imbalance. Here, we report a case of anti-NMDAR encephalitis with initial symptoms of epilepsia partialis continua in the absence of tumor. Briefly, a 3-year-old girl was admitted to the hospital due to right-sided, complex partial seizures without preceding febrile illness...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018465/ictal-sinus-pause-and-myoclonic-seizure-in-a-child
#8
Hye Ryun Kim, Gun-Ha Kim, So-Hee Eun, Baik-Lin Eun, Jung Hye Byeon
Ictal tachycardia and bradycardia are common arrhythmias; however, ictal sinus pause and asystole are rare. Ictal arrhythmia is mostly reported in adults with temporal lobe epilepsy. Recently, ictal arrhythmia was recognized as a major warning sign of sudden unexpected death in epilepsy. We present an interesting case of a child with ictal sinus pause and asystole. A 27-month-old girl was hospitalized due to 5 episodes of convulsions during the past 2 days. Results of routine electroencephalography (EEG) were normal, but she experienced brief generalized tonic seizure for 3 days...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018464/a-pediatric-case-of-idiopathic-harlequin-syndrome
#9
Ju Young Kim, Moon Souk Lee, Seung Yeon Kim, Hyun Jung Kim, Soo Jin Lee, Chur Woo You, Jon Soo Kim, Ju Hyung Kang
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...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018463/concomitant-occurrence-of-turner-syndrome-and-growth-hormone-deficiency
#10
Jung Yu, Ha Young Shin, Chong Guk Lee, Jae Hyun Kim
Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency (GHD) is a condition caused by insufficient release of growth hormone from the pituitary gland. The concomitant occurrence of TS and GHD is rare and has not yet been reported in Korea. Here we report 2 cases of TS and GHD. In case 1, GHD was initially diagnosed. Karyotyping was performed because of the presence of the typical phenotype and poor response to growth hormone therapy, which revealed 45,X/45,X+mar...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018462/a-novel-mutation-of-abcc8-gene-in-a-patient-with-diazoxide-unresponsive-congenital-hyperinsulinism
#11
Ji Sook Park, Hong-Jun Lee, Chan-Hoo Park
Congenital hyperinsulinism (CHI) is a rare condition that can cause irreversible brain damage during the neonatal period owing to the associated hypoglycemia. Hypoglycemia in CHI occurs secondary to the dysregulation of insulin secretion. CHI has been established as a genetic disorder of islet-cell hyperplasia, associated with a mutation of the ABCC8 or KCNJ11 genes, which encode the sulfonylurea receptor 1 and the inward rectifying potassium channel (Kir6.2) subunit of the ATP-sensitive potassium channel, respectively...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018461/hashimoto-thyroiditis-with-an-unusual-presentation-of-cardiac-tamponade-in-noonan-syndrome
#12
Mi Ji Lee, Byung Young Kim, Jae Sook Ma, Young Earl Choi, Young Ok Kim, Hwa Jin Cho, Chan Jong Kim
Noonan syndrome is an autosomal dominant, multisystem disorder. Autoimmune thyroiditis with hypothyroidism is an infrequent feature in patients with Noonan syndrome. A 16-year-old boy was admitted because of chest discomfort and dyspnea; an echocardiogram revealed pericardial effusion. Additional investigations led to a diagnosis of severe hypothyroidism due to Hashimoto thyroiditis. The patient was treated with L-thyroxine at 0.15 mg daily. However, during admission, he developed symptoms of cardiac tamponade...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018460/unusual-malignant-neoplasms-of-ovary-in-children-two-cases-report
#13
Ali Ghribi, Aicha Bouden, Manef Gasmi, Mourad Hamzaoui
Sex cord tumors with annular tubules are known to originate from the sex cord of embryonic gonads that synthesize Sertoli cells, Leydig cells, granulosa cells, and theca cells of the ovarian stroma, while ovarian small cell carcinoma of the hypercalcemic type is a type of neuroendocrine tumor. Both these tumors are uncommon, potentially malignant neoplasms in children. We report the case of a sex cord tumor with annular tubules in an 11-year-old girl and a case of small cell carcinoma of the hypercalcemic type in a 10-year-old girl...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018459/a-novel-mutation-of-clcnkb-in-a-korean-patient-of-mixed-phenotype-of-bartter-gitelman-syndrome
#14
Hee-Won Cho, Sang Taek Lee, Heeyeon Cho, Hae Il Cheong
Bartter syndrome (BS) is an inherited renal tubular disorder characterized by low or normal blood pressure, hypokalemic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Type III BS is caused by loss-of-function mutations in CLCNKB encoding basolateral ClC-Kb. The clinical phenotype of patients with CLCNKB mutations has been known to be highly variable, and cases that are difficult to categorize as type III BS or other hereditary tubulopathies, such as Gitelman syndrome, have been rarely reported...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018458/successful-treatment-of-tubulointerstitial-nephritis-and-uveitis-with-steroid-and-azathioprine-in-a-12-year-old-boy
#15
Ji Eun Kim, Se Jin Park, Ji Young Oh, Hyeon Joo Jeong, Ji Hong Kim, Jae Il Shin
Tubulointerstitial nephritis and uveitis (TINU) syndrome is a rare disease, often underdiagnosed or misdiagnosed in children. We describe the case of a 12-year-old boy who presented to Severance Hospital with a 1-month history of bilateral conjunctival injection. He was first evaluated by an Ophthalmologist in another hospital and diagnosed with panuveitis. Laboratory tests indicated renal failure, and a renal biopsy confirmed the diagnosis of acute tubulointerstitial nephritis. An extensive exclusion of all possible causes allowed a diagnosis of TINU syndrome...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018457/relapsed-wilms-tumor-with-multiple-brain-metastasis
#16
Akın Akakın, Baran Yılmaz, Murat Şakir Ekşi, Özlem Yapıcıer, Türker Kılıç
Wilms' tumor is the most common malignant renal tumor in childhood. The brain metastasis of a Wilms' tumor with anaplastic histopathology is rare. We present the case of an 8-year-old girl with Wilms' tumor, who presented with multiple brain metastases 5 years after her primary diagnosis. The brain masses were diagnosed after a generalized tonic-clonic seizure attack. The big solid mass in the cerebellum was resected, and whole-brain radiotherapy was performed, after which, she succumbed to her disease. In the case of clinical suspicion, cranial surveillance should be included in the routine clinical work-up for Wilms' tumor...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018456/esthesioneuroblastoma-in-a-boy-with-47-xyy-karyotype
#17
Hee Cheol Jo, Seong Wook Lee, Hyun Joo Jung, Jun Eun Park
Neuroblastomas are sometimes associated with abnormal constitutional karyotypes, but the XYY karyotype has been rarely described in neuroblastomas. Here, we report a case of an esthesioneuroblastoma in a boy with a 47, XYY karyotype. A 6-year-old boy was admitted to our hospital because of nasal obstruction and palpable cervical lymph node, which he first noticed several days previously. A polypoid mass in the right nasal cavity was detected through sinuscopy. Biopsy of the right nasal polyp was performed. Based on the result, the patient was diagnosed with a high-grade esthesioneuroblastoma...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018455/granular-cell-tumor-of-the-esophagus-in-an-adolescent
#18
Ji Sun Lee, Kyung Ok Ko, Jae Woo Lim, Eun Jeong Cheon, Young Jin Kim, Jang Sin Son, Jung Min Yoon
Esophageal granular cell tumor (GCT) is a rare neoplasm originating from the Schwann cells of the submucosal neuronal plexus. Histology is the gold standard for its diagnosis. Endoscopic resection or surgical excision should be considered, depending on the potential for malignancy. Here, we report a case of an esophageal GCT in an adolescent. A 12-year-old boy presented with a 1-year history of dysphagia and vomiting. Upper gastrointestinal endoscopic examination and esophagography showed narrowing of the midesophagus, and computed tomography angiography of the thoracic aorta revealed an esophageal or periesophageal mass posterior to the paratracheal segment of the esophagus...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018454/idiopathic-midaortic-syndrome-with-malignant-hypertension-in-3-year-old-boy
#19
Kyung Jin Ahn, Ja Kyoung Yoon, Gi Beom Kim, Bo Sang Kwon, Eun Jung Bae, Chung Il Noh
Midaortic syndrome (MAS) is a rare vascular disease that commonly causes renovascular hypertension. The lumen of the abdominal aorta narrows and the ostia of the branches show stenosis. MAS is associated with diminished pulses in the lower extremities compared with the upper extremities, severe hypertension with higher blood pressure in the upper rather than lower extremities, and an abdominal bruit. The clinical symptoms are variable, and recognition in children with hypertension can aid early diagnosis and optimal treatment...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018453/anomalous-right-coronary-artery-from-pulmonary-artery-discovered-incidentally-in-an-asymptomatic-young-infant
#20
Kyu Seon Kim, Eun Young Jo, Jae Hyeon Yu, Hong Rang Kil
Isolated anomalous right coronary artery originating from the pulmonary artery (ARCAPA) is a rare congenital coronary anomaly that is asymptomatic and discovered incidentally in most cases. ARCAPA is generally not considered a fatal defect in infancy or childhood, although cases of sudden death have been reported. Here, we report a 2-month-old female infant who presented with a prolonged fever that was determined to be caused by rhinovirus infection. Myocardial ischemia of the left ventricular posterior wall was already seen on echocardiography, and ARCAPA was discovered incidentally...
November 2016: Korean Journal of Pediatrics
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