A Case of Platyspondylic Lethal Skeletal Dysplasia Torrance Type

Platyspondylic lethal skeletal dysplasia, Torrance type (PLSD-T), is one of the phenotypes of type II collagenopathy and is characteristic of severe bone growth disorder. This phenotype may limit the growth and expansion of the lungs, which is known to cause death from respiratory failure during or shortly after birth, but in few less severe cases, patients have been reported to have survived to adulthood. We have experienced a case of PLSD-T in a preterm infant who was delivered via cesarean section at the gestational age of 29 weeks 3 days, with a birth weight of 1.15 kg. Physical examination of the infant revealed characteristic findings of short arms and legs, small thorax, distended abdomen, and cleft palate. On the basis of the subsequent genetic testing, the patient had a heterozygous mutation in the encoded c-propeptide region of collagen, type II, alpha 1 (COL2A1), c.4335G>A (p.Trp1445*) in exon 52. This is the first case of PLSD-T diagnosed in Korea, and we hereby report the case.

Neonatal Seizures with Diffuse Cerebral White Matter Lesions on Magnetic Resonance Imaging Associated with Rotavirus Infection: A Report of Three Cases

Rotavirus is the major cause of gastroenteritis in children under the age of 5. Rotavirus infection may lead to several neurological complications as meningitis, encephalitis, convulsion, encephalopathy, hemorrhagic shock, central pontine myelinolysis, Guillain-Barre syndrome, and Reye's syndrome. Further, some reports have described diffuse cerebral white matter lesions on diffusion-weighted magnetic resonance imaging (MRI) in neonates with rotavirus induced seizures. Here, we report on three neonates with rotavirus induced seizures with cerebral white matter abnormalities on MRI.

A case of Severe Hydrops Fetalis due to Anti-E Alloimmunization

Hydrops fetalis is a condition characterized by an accumulation of fluid, or edema, in at least two fetal compartments. Only a small percentage (less than 10%) of hydrops fetalis cases are related to immune hydrops caused by variant antigens present the surface of the red blood cells (RBCs), depending on blood groups, such as ABO, Rh (C, D, E, c, e), I, P, Kell, etc. The Rh (E) antigen generally does not cause fetal anemia; however, in rare cases, it can be lethal, leading to stillbirth. We report a case of a preterm infant born at 28 weeks gestational age with severe hydrops fetalis caused by anti-E alloimmunization.

Body image and depression in girls with idiopathic precocious puberty treated with gonadotropin-releasing hormone analogue

PURPOSE: Precocious puberty (PP) is associated with psychological and behavioral problems. This study aimed to evaluate the perception of body image and depression in girls with PP receiving gonadotropin-releasing hormone (GnRH) analogue therapy. METHODS: From March to August 2013, 82 girls with PP receiving GnRH analogue therapy were enrolled. Height, weight, body mass index, and stages of pubertal development were assessed. Participants completed a series of questionnaires on their body image perception and pubertal self-assessment. The depression score was calculated using the Korean Kovacs' Children's Depression Inventory. RESULTS: The patients perceived their body to be more obese than the controls did. The mean depression score did not differ between the patients and controls. The mean depression scores according to Tanner stages (1: prepubertal, 2: early pubertal, and 3–5: mid to late pubertal stage) by self-assessment were 5.2±3.6, 6.8±4.9, and 11.4±10.1 (P<0.05), respectively. The perception of overall body build and figure (%) and the mean depression scores in patients were: dissatisfied (25.6%, 9.7±7.8) and satisfied (74.4%, 5.5±3.4) (P<0.05). In multiple linear regression analysis, self-T3 (Tanner stage 3–5 by self-awareness) and dissatisfaction about overall body build and figure were found to significantly affect the depression score(P<0.05). CONCLUSION: The perception of pubertal status and satisfaction about height or weight are unrelated to objective physical findings. Patients with PP are prone to distorted perception about their body image and breast development. Such incorrect body image seems to contribute to depression score.

Body image and depression in girls with idiopathic precocious puberty treated with gonadotropin-releasing hormone analogue

PURPOSE: Precocious puberty (PP) is associated with psychological and behavioral problems. This study aimed to evaluate the perception of body image and depression in girls with PP receiving gonadotropin-releasing hormone (GnRH) analogue therapy. METHODS: From March to August 2013, 82 girls with PP receiving GnRH analogue therapy were enrolled. Height, weight, body mass index, and stages of pubertal development were assessed. Participants completed a series of questionnaires on their body image perception and pubertal self-assessment. The depression score was calculated using the Korean Kovacs' Children's Depression Inventory. RESULTS: The patients perceived their body to be more obese than the controls did. The mean depression score did not differ between the patients and controls. The mean depression scores according to Tanner stages (1: prepubertal, 2: early pubertal, and 3–5: mid to late pubertal stage) by self-assessment were 5.2±3.6, 6.8±4.9, and 11.4±10.1 (P<0.05), respectively. The perception of overall body build and figure (%) and the mean depression scores in patients were: dissatisfied (25.6%, 9.7±7.8) and satisfied (74.4%, 5.5±3.4) (P<0.05). In multiple linear regression analysis, self-T3 (Tanner stage 3–5 by self-awareness) and dissatisfaction about overall body build and figure were found to significantly affect the depression score(P<0.05). CONCLUSION: The perception of pubertal status and satisfaction about height or weight are unrelated to objective physical findings. Patients with PP are prone to distorted perception about their body image and breast development. Such incorrect body image seems to contribute to depression score.

A Case of Neonatal Cerebral Infarction associated with Mutation in homozygous MTHFR C677T Gene / 대한주산의학회잡지

C677T mutation in the gene encoding 5,10-methylenetetrahydrofolate reductase (MTHFR) predisposes to hyperhomocysteinemia in vivo and is known to be one of the causes of perinatal ischemic stroke. As MTHFR plays a role in the metabolism of homocysteine, C677T mutation may account for reduced enzymatic activity resulting in hyperhomocysteinemia. This may be prevented by introducing activity-enhancing coenzymes such as folic acid, vitamin B6, and B12. Though C677T mutation is known as a significant risk factor for cerebral infarction, reported cases of cerebral infarction among affected neonates are scarce. This report describes a case of a neonate homozygous for C677T mutation who had a perinatal ischemic stroke, born in a mother whose folic acid and nutritional consumption had been reduced during pregnancy.

Cleft Palate Associated with Congenital Lipoma of the Palate in a Newborn

Lipoma is relatively uncommon in the oral cavity, representing 1-5% of benign oral tumors. Lipoma of the oral cavity may occur in any region; the buccal mucosa, tongue, lip, and mouth floor are among the common sites. The majority of cases of oral lipoma occur after the age of 40 years, and it is not observed frequently in children. Congenital lipoma of the palate is extremely rare. Here we present a rare case of congenital lipoma of the palate associated with cleft palate of a neonate, and review the relevant literature. Surgical excision of the tumor was successful. The present case is the third case of congenital lipoma of the palate associated with cleft palate reported in the literature.

A Case of Familial Stickler Syndrome in a Newborn with COL2A1 Gene Mutation / 대한주산의학회잡지

Stickler syndrome is a progressive, hereditary disorder of connective tissue caused by mutations in different collagen genes. It is characterized by distinctive ocular, auditory, skeletal and oro-facial abnormalities and associated with long-term respiratory, nutritional, and developmental difficulties. Therefore, early detection and early treatment of Stickler syndrome is very important. We reported a case of Stickler syndrome in a newborn with family history and COL2A1 gene mutation.

Leptin, Neuropeptide Y and Islet Amyloid Polypeptide Levels in Obese Children / 대한소아소화기영양학회지

PURPOSE: The aim of this study was to compare serum leptin, neuropeptide Y (NPY), and islet amyloid polypeptide (amylin) levels in obese and normal weight children, and to investigate their correlations with anthropometric parameters and metabolic bio-marker levels. METHODS: Body mass index (BMI), waist and hip circumference, blood pressure (systolic/diastolic), lipid profile, fasting glucose, and serum insulin, leptin, NPY, and amylin levels were measured in 56 children (24 obese children and 32 non-obese controls). Homeostatic model assessment-insulin resistance (HOMA-IR) values were calculated and the relationships between anthropometric variables, metabolic biomarkers, and diet-regulating factors (leptin, NPY, and amylin levels) were examined. RESULTS: BMI, hip circumference, waist circumference, and systolic and diastolic pressure were significantly higher in the obese group than in the non-obese group (p<0.0001). Total cholesterol, triglyceride, low-density lipoprotein-cholesterol, glucose, and insulin levels were also significantly higher in the obese group (p<0.05). On the other hand, high-density lipoprotein-cholesterol levels were higher in the non-obese group , but this was not significant. Serum leptin, NPY, and amylin levels were significantly higher in the obese group (p<0.05). Furthermore, in the obese group, leptin levels were found to be significantly correlated with BMI (r=0.379, p=0.043), and NPY levels (r=0.377, p=0.044), and amylin levels were found to be significantly correlated with insulin levels (r=0.400, p=0.048), and HOMA-IR (r=0.459, p=0.028). CONCLUSION: Metabolic risk factor alterations are present in obese children, and these children show abnormalities in the diet regulatory system caused by leptin, NPY, and amylin resistance. Of particular note, amylin was found to be positively correlated with insulin resistance.

Hand Foot Mouth Disease with Meningomyeloencephalitis Caused by Enterovirus 71 / 대한소아신경학회지

Hand-foot-and-mouth disease (HFMD) is a viral illness with a distinct clinical presentation of oral and characteristic distal extremity lesions. It is caused by members of the enterovirus genus, namely, coxsackievirus A16 or enterovirus 71. HFMD is more severe in infants and children than adults, but generally, the disease has a mild course and is self-limiting. However, in recent epidemiology of HFMD in Asia, severe cases with complications have been reported. Enterovirus 71 may cause myocarditis, pneumonia, and severe neurological complications such as brainstem encephalitis, aseptic meningitis, acute flaccid paralysis, meningoencephalitis, meningomyeloencephalitis, and even death. A large outbreak of HFMD in Taiwan and Singapore caused by enterovirus 71 had a high mortality rate; the deaths resulted from pulmonary hemorrhage, interstitial pneumonitis, or brainstem encephalitis. HFMD was also epidemic in Korea in the spring of 2010. Severe cases with complications including neurological complications and death have been reported in HFMD patients, thus it has become a public health issue. We report five children who had severe HFMD caused by enterovirus 71 with meningomyeloencephalitis which caused a disturbance in consciousness, motor weakness, strabismus, and voiding difficulty. There was no mortality, and no patients exhibited sequelae.

A Case of Urinary Ascites with Urinoma Secondary to Ureteropelvic Junction Obstruction in a Neonate

Spontaneous intraperitoneal extravasation of urine is rare. Perirenal urinoma may develop when obstruction to urinary flow creates sufficient back pressure to produce extravasation of urine. Urinary ascites most commonly indicate a disruption to the integrity of the urinary tract. We report a case of urinary ascites with urinoma resulting from an ureteropelvic junction obstruction in a neonate.