Relapsed Wilms' tumor with multiple brain metastasis.
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. Combined aggressive therapy (surgery+radiotherapy+chemotherapy) should be applied whenever possible, for both better survival and palliative as...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Successful treatment of tubulointerstitial nephritis and uveitis with steroid and azathioprine in a 12-year-old boy.
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. The patient was treated with a systemic corticosteroid (initially prednisolone, 2 mg/kg and later deflazacort 1 mg/kg) and topical steroid drops for 1 month. Azathioprine was later added t...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
A novel mutation of CLCNKB in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome.
We report a case of a 10-year-old Korean boy with atypical clinical findings caused by a novel CLCNKB mutation. The boy showed intermittent muscle cramps with laboratory findings of hypokalemia, severe hypomagnesemia, and nephrocalcinosis. These findings were not fully compatible with those observed in cases of BS or Gitelman syndrome. The CLCNKB mutation analysis revealed a heterozygous c.139G>A transition in exon 13 [p.Gly(GGG)465Glu(GAG)]. This change is not a known mutation; however, the clinical findings and in silico prediction results indicated that it is the underlying cause of his presentation.
PMID: 28...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Unusual malignant neoplasms of ovary in children: two cases report.
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. We also discuss the prognosis and management of these tumors.
PMID: 28018460 [PubMed] (Source: Korean Journal of Pediatrics)
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Hashimoto thyroiditis with an unusual presentation of cardiac tamponade in Noonan syndrome.
Authors: Lee MJ, Kim BY, Ma JS, Choi YE, Kim YO, Cho HJ, Kim CJ
Abstract
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. Closed pericardiostomy ...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
A novel mutation of ABCC8 gene in a patient with diazoxide-unresponsive congenital hyperinsulinism.
We report the case of a female newborn infant who presented with repetitive seizures and episodes of apnea after birth, because of hypoglycemia. Investigations revealed hypoglycemia with hyperinsulinemia, but no ketone bodies, and a low level of free fatty acids. High dose glucose infusion, enteral feeding, and medications could not maintain the patient's serum glucose level. Genetic testing revealed a new variation of ABCC8 mutation. Therefore, we report this case of CHI caused by a novel mutation of ABCC8 in a half-Korean newborn infant with diazoxide-unresponsive hyperinsulinemic hypoglycemia.
PMID: 28018462 [Pu...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Concomitant occurrence of Turner syndrome and growth hormone deficiency.
Authors: Yu J, Shin HY, Lee CG, Kim JH
Abstract
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...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
A pediatric case of idiopathic Harlequin syndrome.
Authors: Kim JY, Lee MS, Kim SY, Kim HJ, Lee SJ, You CW, Kim JS, Kang JH
Abstract
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 h...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Ictal sinus pause and myoclonic seizure in a child.
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. During video-monitored EEG and echocardiography (ECG), she showed multiple myoclonic seizures simultaneously or independently, as well as frequent sinus pauses. After treatment with valproic acid, myoclonus and generalized tonic seizures were well controlled and only 2 sinus pauses were seen on 24-hour Holter ECG monitoring. Sinus...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
A young child of anti-NMDA receptor encephalitis presenting with epilepsia partialis continua: the first pediatric case in Korea.
Authors: Kim EH, Kim YJ, Ko TS, Yum MS, Lee JH
Abstract
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 hospita...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
A rare case of dysembryoplastic neuroepithelial tumor combined with encephalocraniocutaneous lipomatosis and intractable seizures.
Authors: Han JY, Yum MS, Kim EH, Hong S, Ko TS
Abstract
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 associat...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Posterior reversible encephalopathy syndrome caused by presumed Takayasu arteritis.
We report of a 5-year-old girl with presumed TA who presented with PRES and chronic total occlusion in the renal artery. The findings on magnetic resonance imaging suggested PRES. Left nephrectomy was performed for total occlusion of the left renal artery, and the confirmatory diagnosis of TA was based on the pathologic findings of the renal artery.
PMID: 28018468 [PubMed] (Source: Korean Journal of Pediatrics)
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Type I Chiari malformation presenting orthostatic syncope who treated with decompressive surgery.
We report a case of orthostatic syncope in a patient with CM-I who was treated with surgical intervention.
PMID: 28018469 [PubMed] (Source: Korean Journal of Pediatrics)
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea.
Authors: Choi YC, Yum MS, Kim MJ, Lee YJ, Ko TS
Abstract
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. ...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Paroxysmal kinesigenic dyskinesia in a patient with a PRRT2 mutation and centrotemporal spike discharges on electroencephalogram: case report of a 10-year-old girl.
Authors: Seo SY, You SJ
Abstract
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 d...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
