1.Complex cardiac Anomaly associated with the Digeorge syndrome.
Jun Ho MOON ; Wook Su AHN ; Yong HUR ; Byung Yul KIM ; Jung Ho LEE
The Korean Journal of Thoracic and Cardiovascular Surgery 1993;26(11):886-889
No abstract available.
DiGeorge Syndrome*
2.Primary hypoparathyroidism and non-functioning pituitary adenoma: An incidental coexistence?
Journal of the ASEAN Federation of Endocrine Societies 2014;29(1):86-89
Primary hypoparathyroidism is caused by a group of heterogeneous conditions in which hypocalcemia and hyperphosphatemia occur as a result of deficient parathyroid hormone (PTH) secretion. The most common cause is surgical excision and damage to the parathyroid gland(s). Nonetheless, autoimmune endocrine disorder of primary hypothyroidism has been well-described in polyglandular autoimmune syndromes (PAS).1 Its association with pituitary lesion may be autoimmune lymphocytic hypophysitis as the cause for pituitary disorder. In this report, we encountered a patient with primary hypoparathyroidism who had a non-functioning pituitary tumour. It was confirmed as pituitary adenoma rather than lymphocytic hypophysitis from the histopathological examination. To our knowledge, this is the first reported case of non-functioning pituitary macroadenoma and primary hypoparathyroidism.
Hypopituitarism
;
Autoimmune Hypophysitis
;
DiGeorge Syndrome
3.Aspiration pneumonia in the child with DiGeorge syndrome: A case report.
Korean Journal of Anesthesiology 2011;60(6):449-452
DiGeorge syndrome is associated with a chromosome 22q11.2 deletion and manifests with variable clinical findings. Aspiration pneumonia can be a perioperative complication of great concern in this syndrome. In this report, we present a case of a 16-month old child with DiGeorge syndrome undergoing cranioplasty. He developed perioperative aspiration pneumonia but was managed successfully.
Child
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DiGeorge Syndrome
;
Humans
;
Pneumonia, Aspiration
5.Bilateral Striopallidodentate Calcinosis in Chromosome 22q11.2 Deletion Syndrome.
Yu Jin JUNG ; Youngnam KWON ; Young Chul KWON ; Dongwhane LEE ; Sang Hwa LEE ; Sung Hyuk HEO ; Dae Il CHANG
Journal of the Korean Neurological Association 2012;30(4):305-308
Symptomatic bilateral striopallidodentate calcinosis is required to identify the underlying causes. Disorder of calcium metabolism, such as hypoparathyroidism is the most common cause. We report a patient with hypoparathyroidism induced intracranial calcification who presented seizure and psychotic symptoms in adult and finally diagnosed as a choromosome 22q11.2 deletion syndrome.
Adult
;
Calcinosis
;
Calcium
;
DiGeorge Syndrome
;
Humans
;
Hypoparathyroidism
;
Seizures
6.DiGeorge syndrome in a neonate.
Kai-Ju LUO ; Ping-Yang CHEN ; Wen LI
Chinese Journal of Contemporary Pediatrics 2014;16(9):949-951
DiGeorge Syndrome
;
diagnosis
;
therapy
;
Humans
;
Infant, Newborn
;
Male
8.A case of CHARGE syndrome featuring immunodeficiency and hypocalcemia.
Yu Yun SON ; Byeonghyeon LEE ; Chae Ri SUH ; Hyo Kyoung NAM ; Jung Hwa LEE ; Young Sook HONG ; Joo Won LEE
Journal of Genetic Medicine 2015;12(1):57-60
CHARGE syndrome (coloboma, heart defects, atresia choanae, retarded growth and development, genital hypoplasia, and ear abnormalities) is characterized by multiple malformations and is diagnosed using distinct consensus criteria. Mutations in the gene encoding chromodomain helicase DNA-binding protein 7 (CHD7) are the major cause of CHARGE syndrome. Clinical features of CHARGE syndrome considerably overlap those of 22q11.2 deletion syndrome. Of these features, immunodeficiency and hypocalcemia are frequently reported in patients with 22q11.2 deletion syndrome but are rarely reported in patients with CHARGE syndrome. In this report, we have described the case of a patient with typical phenotypes of 22q11.2 deletion syndrome but without the proven chromosome microdeletion. Mutation analysis of CHD7 identified a pathogenic mutation (c.2238+1G>A) in this patient. To our knowledge, this is the first case of CHARGE syndrome with immunodeficiency and hypocalcemia in Korea. Our observations suggest that mutation analysis of CHD7 should be performed for patients showing the typical phenotypes of 22q11.2 deletion syndrome but lacking the proven chromosome microdeletion.
CHARGE Syndrome*
;
Consensus
;
DiGeorge Syndrome
;
Ear
;
Growth and Development
;
Heart
;
Humans
;
Hypocalcemia*
;
Korea
;
Nasopharynx
;
Phenotype
9.22q11 Microdeletion and Clinico-Genetic Correlation in CATCH 22 Syndrome.
Hong Ryang KIL ; Young Ha LEE ; Yong Hun CHUNG
Journal of the Korean Pediatric Society 2000;43(12):1536-1543
PURPOSE: Deletion of chromosome 22q11 is associated with DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome. This study was performed to determine the criteria of clinical phenotype as recognizable syndrome and to research the loss of heterozygosity in CATCH 22 patients and their family. METHODS: An evaluation of the clinical and genetic profiles of 30 persons of CATCH 22 syndrome or their family referred with a diagnosis of either congenital heart disease or cleft palate was undertaken. The deletions of 22q11 were analyzed using the fluorescences in situ hybridization(N25, Oncor) and short tandem-repeat polymorphic makers(STRP, D22S941). RESULTS: The dysmorphic features of CATCH 22 showed considerable overlap and intrafamilial difference was common. The familial cases of CATCH 22 were transmitted maternally as autosomal dominant. The target gene study using the STRP maker(D22S941) in these series showed good clinico-genetic correlation but some heterogeneity. CONCLUSION: Although 22q11 deletion was large in size and high variable in polymorphic markers, extensive evaluation clinically as well as genetically will be necessary for subgrouping of CATCH 22 syndrome due to good clinicogenetic correlation. Furthermore, we also suggest the development of new polymorphic markers to research the unknown characteristics of polymorphic markers in Korean patients with CATCH 22 syndrome.
Cleft Palate
;
Diagnosis
;
DiGeorge Syndrome
;
Heart Defects, Congenital
;
Humans
;
Loss of Heterozygosity
;
Phenotype
;
Population Characteristics
10.A Case of CATCH22 Syndrome with First Attack of Hypocalcemic Seizure at 13 Years of Age.
Young Won AN ; Mi Jin JUNG ; Jee Suk YU ; Young Seok LEE ; Han Wook YOO
Korean Journal of Pediatrics 2004;47(7):794-798
The acronym 'CATCH22' is characterized by many clinical manifestations such as cardiac defects, abnormal face, thymic and parathyroid hypoplasia, cleft palate and hypocalcaemia. It is now known to arise from chromosome 22q11.2 microdeletion, and it is also called 22q11.2 deletion syndrome. Hypocalcemia occurs in more than 50% cases of this syndrome, most frequently in neonatal periods, with some exceptions. Our patient was not diagnosed until age 13, although he had a cleft palate and presented with nasal speech and learning disturbances. He had no clinical manifestations of hypocalcemia until age 13, when he developed generalized tonic-clonic convulsions several times in that year. Laboratory tests showed hypocalcemia, hyperphosphatemia, with normo-to-low parathyroid hormone levels in the serum. Chromosome analysis with FISH revealed a deletion on the proximal portion of the long arm of chromosome 22(22q11.2). The authors herein report a case of CATCH22 syndrome who showed hypocalcemic convulsions in late childhood with a review of the literature.
Arm
;
Cleft Palate
;
DiGeorge Syndrome*
;
Humans
;
Hyperphosphatemia
;
Hypocalcemia
;
Learning Disorders
;
Parathyroid Hormone
;
Seizures*