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Case Report
Genetics and Metabolism
Edentulous child with Allgrove syndrome: a rare case report
Mohammad Vahedi, Shima Fathi, Hanif Allahbakhshi
Clin Exp Pediatr. 2016;59(11):456-459.   Published online November 18, 2016

Triple-A syndrome, also known as Allgrove syndrome, is a rare autosomal recessive disorder. The 3 features of this syndrome are achalasia, adrenal insufficiency, and alacrima. Achalasia could be the first manifestation of the triple-A syndrome; however, its etiology is unclear. Alacrima is generally asymptomatic but can be detected by obtaining patient history. Although adrenal insufficiency could have manifestations such as...

A nonsense PAX6 mutation in a family with congenital aniridia
Kyoung Hee Han, Hye Jin Lee, Il-Soo Ha, Hee Gyung Kang, Hae Il Cheong
Clin Exp Pediatr. 2016;59(Suppl 1):S1-S4.   Published online November 30, 2016

Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6), which is an essential gene in eye development. Herein, we report a familial case of autosomal dominant congenital aniridia with four affected members...

Nephrology (Genitourinary)
A novel mutation of CLCNKB in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome
Hee-Won Cho, Sang Taek Lee, Heeyeon Cho, Hae Il Cheong
Clin Exp Pediatr. 2016;59(Suppl 1):S103-S106.   Published online November 30, 2016

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...

Endocrinology
Hashimoto thyroiditis with an unusual presentation of cardiac tamponade in Noonan syndrome
Mi Ji Lee, Byung Young Kim, Jae Sook Ma, Young Earl Choi, Young Ok Kim, Hwa Jin Cho, Chan Jong Kim
Clin Exp Pediatr. 2016;59(Suppl 1):S112-S115.   Published online November 30, 2016

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....

Concomitant occurrence of Turner syndrome and growth hormone deficiency
Jung Yu, Ha Young Shin, Chong Guk Lee, Jae Hyun Kim
Clin Exp Pediatr. 2016;59(Suppl 1):S121-S124.   Published online November 30, 2016

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...

A novel mutation of ABCC8 gene in a patient with diazoxide-unresponsive congenital hyperinsulinism
Ji Sook Park, Hong-Jun Lee, Chan-Hoo Park
Clin Exp Pediatr. 2016;59(Suppl 1):S116-S120.   Published online November 30, 2016

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...

Neurology
Chromosome 11q13 deletion syndrome
Yu-Seon Kim, Gun-Ha Kim, Jung Hye Byeon, So-Hee Eun, Baik-Lin Eun
Clin Exp Pediatr. 2016;59(Suppl 1):S10-S13.   Published online November 30, 2016

Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness,...

Oncology
Unusual malignant neoplasms of ovary in children: two cases report
Ali Ghribi, Aicha Bouden, Manef Gasmi, Mourad Hamzaoui
Clin Exp Pediatr. 2016;59(Suppl 1):S107-S111.   Published online November 30, 2016

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...

Neurology
A pediatric case of idiopathic Harlequin syndrome
Ju Young Kim, Moon Souk Lee, Seung Yeon Kim, Hyun Jung Kim, Soo Jin Lee, Chur Woo You, Jon Soo Kim, Ju Hyung Kang
Clin Exp Pediatr. 2016;59(Suppl 1):S125-S128.   Published online November 30, 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...

Ictal sinus pause and myoclonic seizure in a child
Hye Ryun Kim, Gun-Ha Kim, So-Hee Eun, Baik-Lin Eun, Jung Hye Byeon
Clin Exp Pediatr. 2016;59(Suppl 1):S129-S132.   Published online November 30, 2016

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...

A rare case of dysembryoplastic neuroepithelial tumor combined with encephalocraniocutaneous lipomatosis and intractable seizures
Jee-Yeon Han, Mi-Sun Yum, Eun-Hee Kim, Seokho Hong, Tae-Sung Ko
Clin Exp Pediatr. 2016;59(Suppl 1):S139-S144.   Published online November 30, 2016

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...

A young child of anti-NMDA receptor encephalitis presenting with epilepsia partialis continua: the first pediatric case in Korea
Eun-Hee Kim, Yeo Jin Kim, Tae-Sung Ko, Mi-Sun Yum, Jun Hwa Lee
Clin Exp Pediatr. 2016;59(Suppl 1):S133-S138.   Published online November 30, 2016

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...

Nephrology (Genitourinary)
Posterior reversible encephalopathy syndrome caused by presumed Takayasu arteritis
Ki Wuk Lee, Sang Taek Lee, Heeyeon Cho
Clin Exp Pediatr. 2016;59(Suppl 1):S145-S148.   Published online November 30, 2016

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...

Neurology
1p36 deletion syndrome confirmed by fluorescence in situ hybridization and array-comparative genomic hybridization analysis
Dong Soo Kang, Eunsim Shin, Jeesuk Yu
Clin Exp Pediatr. 2016;59(Suppl 1):S14-S18.   Published online November 30, 2016

Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000–10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded karyotyping is difficult. Here we present a case of...

Type I Chiari malformation presenting orthostatic syncope who treated with decompressive surgery
Hyun-Seung Shin, Jeong A Kim, Dong-Seok Kim, Joon Soo Lee
Clin Exp Pediatr. 2016;59(Suppl 1):S149-S151.   Published online November 30, 2016

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...

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