Beckwith-Wiedemann Syndrome (BWS) is a rare congenital overgrowth disorder due to alterations in specific genes in chromosome 11p15. It has a variable clinical picture. Infants may exhibit a combination of the following characteristics: macroglossia, macrosomia, abdominal wall defects, ear creases or posterior helical pits, hypoglycemia, polyhydramnios and prematurity. Presented is a case of a 24-year-old gravida 3 para 2 (2002) who manifested with preterm labor and polyhydramnios. She delivered a preterm live baby girl who was diagnosed to have Beckwith-Wiedemann syndrome. The rarity of this condition, as well as the significant maternal and perinatal complications associated with it, is discussed in this paper.

Human ; Female ; Adult ; Infant Newborn ; Pregnancy ; Congenital Macroglossia ; Macroglossia ; Beckwith-wiedemann Syndrome ; Polyhydramnios ; Abdominal Wall ; Fetal Macrosomia ; Hypertrophy ; Chromosomes ; Hypoglycemia

Macroglossia can cause dentomusculoskeletal deformities, instability of orthodontic and orthognathic surgical treatment, and create masticatory, speech and airway management problems. To determine whether a reduction glossectomy is necessary, it will important to identify the signs and symptoms of macroglossia. Development of dentoskeletal changes directly related with tongue size, such as an anterior open bite or a Angle Class III malocclusion tendency, would indicate that reduction glossectomy may be beneficial. For reduction glossectomy, several techniques have been reported. However, in most techniques the tip of tongue is removed. So its excision causes the loss of most mobile and sensitive portion of the tongue, and creates ankylosed, globular tongue. To avoid such problems, central tongue reduction technique have been proposed. This article will introduce central tongue reduction for anterior openbite case associated with macroglossia.
Airway Management ; Congenital Abnormalities ; Glossectomy ; Macroglossia* ; Malocclusion ; Malocclusion, Angle Class III ; Open Bite ; Tongue*

Macroglossia is a rare clinical condition defined as an enlarged tongue. Macroglossia can cause structural deformities like diastema and disproportionate mandibular growth and present functional disorders such as dysarthria, dysphonia, and respiratory problems. A 7-year-old boy who had lymphangiomatous macroglossia was treated with a reduction glossectomy by anchor-shaped combination of a U-shape and modified key-hole resection. Postoperatively, the reduced tongue was contained completely within the oral cavity, but open bite remained due to prognathism. Sensory and motor nerves to the tongue appeared to be intact, and circulation was adequate. This patient will be monitored for recurrence of tongue enlargement.
Child ; Congenital Abnormalities ; Diastema ; Dysarthria ; Dysphonia ; Glossectomy ; Humans ; Lymphangioma ; Macroglossia ; Male ; Mouth ; Open Bite ; Prognathism ; Recurrence ; Tongue

In the field of oral-maxillofacial surgery, vascular malformations present in various forms. Abnormalities in the size of the tongue by vascular malformations can cause mandibular prognathism and skeletal deformity. The risk in surgical treatment for patients with vascular malformation is high, due to bleeding from vascular lesions. We report a rare case of macroglossia that was treated by partial glossectomy, resulting in an improvement in the swallowing and mastication functions in the patient. A 25-year-old male patient with severe open-bite and mandibular prognathism presented to our department for the management of macroglossia. The patient had a difficulty in food intake because of the large tongue. Orthognathic surgery was not indicated because the patient had severe jaw bone destruction and alveolar bone resorption. Therefore, the patient underwent partial glossectomy under general anesthesia. There was severe hemorrhaging during the surgery, but the bleeding was controlled by local procedures.
Adult ; Anesthesia, General ; Bone Resorption ; Congenital Abnormalities* ; Deglutition ; Eating ; Glossectomy* ; Hemorrhage ; Humans ; Jaw* ; Macroglossia ; Male ; Mastication ; Orthognathic Surgery ; Prognathism ; Tongue ; Vascular Malformations*

Dysphasia related to oral anomaly is a common situation in oral and maxillofacial surgery. The etiology of oral anomalies causing dysphasia can be divided into congenital and acquired disease. Congenital diseases include teratoma or benign tumors and congenital defects such as cleft lip and palate. Benign tumors include cystic hygroma in the neck and hemangioma in the tongue. Certain syndromes with macroglossia and micrognathia are also related to difficulty in swallowing. The three common syndromes are Pierre-Robin syndrome, Beckwith-Widermann syndrome and ectodermal dysplasia. Taken together, these congenital diseases require a multi-discipline approach to obtain optimal results. Representative disease of acquired dysphasia is the oral cavity cancer. Cancer ablation results in tissue defect and decreased motor function. Free flap reconstruction is the choice of treatment following oral cavity caner operation; however, dysphasia after cancer operation is inevitable. In this review article, the full scopes of oral anomaly associated with dysphasia were classified and treatment was suggested.
Aphasia ; Cleft Lip ; Congenital Abnormalities ; Deglutition ; Ectodermal Dysplasia ; Free Tissue Flaps ; Hemangioma ; Lymphangioma, Cystic ; Macroglossia ; Micrognathism ; Mouth ; Mouth Neoplasms ; Neck ; Palate ; Pierre Robin Syndrome ; Surgery, Oral ; Teratoma ; Tongue

PURPOSE:The project of the neonatal mass screening test for inborn errors of metabolism are just at the beginning in Korea and there was a few reports about the overall incidence and subtypes of congenital hypothyroidism. METHODS:In this study, we analysed the 97 cases of newborns with hyperthyrotropinemia who were detected by neonatal screening test to identify the incidence and early clinical manifestations of each subtypes of congenital hypothyroidism. Thyroid function were measured by thyrotropin(TSH) level, T4, T3, Free T4, Free T3, thyroglobulin, T3 resin uptake, TBII, TBG in serum, thyroid ultrasonography and 99mTc thyroid scan. We reanalysed the thyroid functions 1 week after discontinuance of L-thyroxine treatment for 1 year. RESULTS: 1) The time of neonatal screening test were between 3 and 7 days after birth in 46 cases(47.4%) and 8 and 14 days after birth in 35 cases(36.1%). Two cases (2.1%) were done neonatal screening test at the age of 2 days old. 2) The major cause of thyroid disorders were primary hypothyroidism in 45 cases of the total due to thyroid aplasia(7 cases), thyroid hypoplasia(17 cases), ectopic thyroid gland(12 cases) and dyshormonogenesis(9 cases). Other causes of thyroid disorders were TBG deficiency(11 cases), TBG dysfuction(1 case), transient hyperthyrotropinemia(28 cases) and transient hypothyroidism(12 cases). 3) Serum level of thyrotropin(TSH) at diagnosis were 223.5+/-229.6microU/ml in thyroid aplasia, 41.6+/-42.9microU/ml in thyroid hypoplasia, 52.4+/-55.6microU/ml in ectopic thyroid gland. TSH levels were significantly high in thyroid aplasia. T4 levels in thyroid aplasia are 1.7+/-2.0microg/dl and this is significantly lower than other types of thyroid disorders. T3 levels were within normal range except in thyroid aplasia and TBG deficiency. 4) Prolongation of physiologic jaundice was the most common clinical manifestation(33.3%) in patients with primary hypothyroidism and macroglossia, hypothermia, umbilical hernia and cold skin were the next commom clinical manifestations in order to present. 5) Osseous development was normal in 57 cases(82.6%) out of 69 cases who accomplished roentgenographic examination of knees. Only 12 cases(17.4%) showed retardation of osseous development, but there was no significant differences between types of thyroid disorders. 6) Most of the newborn(93.3%) with primary hypothyroidism started to treatment within 8 weeks of age. 7) Initial dosage of L-thyroxine was 10microg/kg/day and decreased 6 to 12 months after treatment. 8) There was significantly decreased thyroid uptake of 99mTc after 1 year follow-up in 5 cases of dyshormonogenesis. 9) The serum TSH levels returned to normal ranges within 6 month after treatment in transient hypothyroidism and transient hyperthyrotropinemia. CONCLUSIONS:Special attention should be paid to transient hyperthyrotropinemia and transient hypothyroidism because many of the congenital thyroid disorders showed transient type and it is necessary to establish the diagnostic guideline to early detect these transient types of congenital thyroid disorders.
Congenital Hypothyroidism ; Diagnosis ; Follow-Up Studies ; Hernia, Umbilical ; Humans ; Hypothermia ; Hypothyroidism ; Incidence ; Infant, Newborn ; Jaundice ; Knee ; Korea ; Macroglossia ; Mass Screening ; Metabolism, Inborn Errors ; Neonatal Screening* ; Parturition ; Reference Values ; Skin ; Thyroglobulin ; Thyroid Dysgenesis ; Thyroid Gland* ; Thyroxine ; Ultrasonography

OBJECTIVETo summarize clinical features and diagnosis of Chinese infantile patients with glycogen storage disease type II (GSD II).

METHODSix infant patients with GSD II diagnosed from January 2012 to June 2014 in the Department of Pediatrics, Peking University First Hospital were enrolled into this study. Clinical information of the 6 patients, including clinical manifestation, blood biochemistry, chest X-ray, echocardiogram, electrocardiogram, acid alpha-glucosidase (GAA) activity and GAA gene mutation analysis by direct sequencing of polymerase chain reaction (PCR) product were reviewed.

RESULTOf the 6 patients, five were female and one was male, five of whom were classic infantile type while the other one was atypical. The age of onset ranged from birth to 3-month-old. All patients had varying degrees of generalized muscle weakness, hypotonia and development retardation or retrogression. Other common findings were feeding difficulties in two patients, tongue weakness in two patients, respiratory distress in four patients, macroglossia in one patient, and hepatomegaly in two patients. Left ventricular hypertrophy and cardiomegaly were obvious in all the six patients. All six patients were found to have a enlarged heart in physical examination, and three patients who underwent a chest X-ray examination had an enlarged heart shadow. Four patients who had an echocardiography were found to have myocardial hypertrophy. The electrocardiogram in three patients showed short PR intervals and high voltage. The creatine kinase (CK) levels were three to seven times elevated. The mildest elevated CK was 441 IU/L, and the highest CK level was 1 238 U/L. Assay of GAA enzyme activity in whole blood showed significantly reduced activity (1.3 nmol/ (spot·d) to 2 nmol/(spot·d)) in the patients tested. Gene sequencing in 4 patients showed 8 pathogenic mutations, including 6 missense mutations, one nonsense mutation and one frameshift mutation. The missense mutations were c.998C > A (p.Thr333Lys), c.1280T > C (p.Met427Thr), c.1760T > C (p.Leu587Pro), c.1924G > T (p.Val642Phe), c.2012T > A (p.Met671Lys) and c.2105G > A (p.Arg702His). The nonsense mutation was c2662G > T (p.Glu888X), and the frameshift mutation was c2812_2813delTG (p.Cys938fs). The 5 classic infantile patients died at the age of 7 to 22 months. The atypical infantile patient was 2 years and five months old according to our latest follow up.

CONCLUSIONInfantile GSD II had similar motor manifestations and cardiac involvements, blood biochemical test, imaging findings, enzyme assays, though there were slight differences. The probability of GSD II should be taken into consideration if an infant has both muscular disease and cardiac involvement.

Asian Continental Ancestry Group ; Female ; Glycogen Storage Disease Type II ; diagnosis ; pathology ; Humans ; Infant ; Infant, Newborn ; Macroglossia ; congenital ; Male ; Muscle Weakness ; Mutation ; Mutation, Missense ; Polymerase Chain Reaction ; alpha-Glucosidases ; genetics ; metabolism

PURPOSE: We investigated the clinical course of infants with congenital heart disease (CHD) who experienced thyroid dysfunction within 100 days of birth. METHODS: We performed retrospective medical reviews of 54 CHD patients (24 male patients) who underwent a thyroid function test (TFT) between January 2007 and July 2016. Data were collected on birth history, diagnosis of CHD, underlying chromosomal or genetic abnormalities, medication history, surgery, ventilator care, and exposure to iodine contrast media (ICM). Results of neonatal screening tests (NSTs) and TFTs were reviewed. RESULTS: A total of 36 patients (29 transient, 7 permanent) showed thyroid dysfunction. Among the seven patients with permanent hypothyroidism, three had an underlying syndrome, three showed abnormal NST results, and one was admitted to the intensive care unit for macroglossia and feeding cyanosis. We found that infants with transient thyroid dysfunction had a lower birth weight and were more commonly exposed to thyroid disrupting medication and/or ICM. However, these risk factors were not significant. A total of 8 patients with a history of ICM exposure showed thyroid dysfunction. Excluding 3 patients with elevated thyroid stimulating hormone before ICM exposure, 5 patients recovered from transient thyroid dysfunction. CONCLUSIONS: We observed thyroid dysfunction in two-thirds of CHD infants (53.7% transient, 13.0% permanent) who had risk factors and received TFT screening within 100 days, despite normal NSTs. Further studies with larger sample sizes are required to revise the criteria for TFT screening in CHD infants.
Birth Weight ; Contrast Media ; Cyanosis ; Diagnosis ; Heart ; Heart Defects, Congenital* ; Humans ; Hypothyroidism ; Infant* ; Infant, Newborn ; Intensive Care Units ; Iodine ; Macroglossia ; Male ; Mass Screening ; Neonatal Screening ; Parturition ; Reproductive History ; Retrospective Studies ; Risk Factors ; Sample Size ; Thyroid Function Tests ; Thyroid Gland* ; Thyrotropin ; Ventilators, Mechanical