• Journal of Chest Surgery
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• v.26 no.11
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• pp.886-889
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• 1993

The DiGeorge syndrome is a rare congenital anomaly of absent or hypoplastic thymus and parathyroid glands. Authors experienced a case of DiGeorge syndrome with complex cardiac anomaly. The complex cardiac anomaly was tetralogy of Fallot with origin of the right pulmonaly artery from the posterolateral ascending aorta.His face showed hypertelorism,short philtrum,"fish-like"mouth and micrognathia. This patient underwent total correction of tetralogy of Fallot and end-to-side anastomosis between right pulmonaly artery and side of main pulmonaly artery. He expired on postoperative second day due to right heart failure and hypoxia.d hypoxia.

• Journal of Chest Surgery
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• v.32 no.6
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• pp.584-587
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• 1999

The DiGeorge syndrome is a rare congenital abnormality consisting of aplasia or hypoplasia of the thymus and parathyroid glands resulting from malformation of the third and fourth pharyngeal pouches. This syndrome usually includes congenital cardiac anomalies and abnormal facial features. We experienced a case of congenital cardiac anomaly associated with DiGeorge syndrome. The patient was 1 month old boy weighing 3.5 kg. The congenital cardiac anomalies included ventricular septal defect, atrial septal defect, coactation of aorta, and patent ductus arteriosus. We performed one-stage operation with two separate incisions for these cardiac anomalies. Postoperative course was uneventful and the patient at 6 months of follow up is doing well.

• Archives of Plastic Surgery
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• v.38 no.1
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• pp.77-80
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• 2011

Purpose: We report a patient with DiGeorge syndrome who was later diagnosed as mild metopic synostosis and received anterior 2/3 calvarial remodeling. Methods: A 16-month-old boy, who underwent palatoplasty for cleft palate at Chungnam National University Hospital when he was 12 months old of age, visited St. Mary's Hospital for known DiGeorge syndrome with craniosynostosis. He had growth retardation and was also diagnosed with hydronephrosis and thymic agenesis. His chromosomal study showed microdeletion of 22q11.2. On physical examination, there were parieto-occipital protrusion and bifrontotemporal narrowing. The facial bone computed tomography showed premature closure of metopic suture, orbital harlequin sign and decreased anterior cranial volume. The interorbital distance was decreased (17 mm) and the cephalic index was 93%. Results: After the correction of metopic synostosis by anterior 2/3 calvarial remodeling, the anterior cranial volume expanded with increased interorbital distance and decreased cephalic index. Fever and pancytopenia were noted at 1 month after the operation, and he was diagnosed as hemophagocytic lymphohistiocytosis by bone marrow study. He however, recovered after pediatric treatment. There was no other complication during the 12 month follow up period. Conclusion: This case presents with a rare combination of DiGeorge syndrome and metopic synostosis. When a child is diagnosed with DiGeorge syndrome soon after the birth, clinicians should keep in mind the possibility of an accompanying craniosynostosis. Other possible comorbidities should also be evaluated before the correction of craniosynostosis in patients as DiGeorge syndrome. In addition, postoperative management requires a thorough follow up by a multidisciplinary team of plastic surgeons, neurosurgeons, ophthalmologists and pediatricians.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.2
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• pp.163-167
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• 2014

DiGeorge syndrome is a disorder caused by microdeletion in chromosome 22q11.2 with various abnormalities including cardiac anomaly, facial dysmorphism, thymic and parathyroid hypoplasia, cleft palate and immune dysfunction. The frequency of hypocalcemia caused by hypoparathyroidism is known to be approximately 60% of DiGeorge syndrome. It is known that the disorder mostly occurs in the neonatal period and the symptoms are improved afterwards. Herein we report a case of DiGeorge syndrome only accompanied by hypocalcemia caused by hypoparathyroidism without other abnormalities. She was first diagnosed only at the age of 22 with basal ganglia calcification that had been discovered in brain CT (Computed tomography).

• Clinical and Experimental Pediatrics
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• v.58 no.3
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• pp.108-111
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• 2015

DiGeorge syndrome is an immunodeficient disease associated with abnormal development of 3rd and 4th pharyngeal pouches. As a hemizygous deletion of chromosome 22q11.2 occurs, various clinical phenotypes are shown with a broad spectrum. Conotruncal cardiac anomalies, hypoplastic thymus, and hypocalcemia are the classic triad of DiGeorge syndrome. As this syndrome is characterized by hypoplastic or aplastic thymus, there are missing thymic shadow on their plain chest x-ray. Immunodeficient patients are traditionally known to be at an increased risk for malignancy, especially lymphoma. We experienced a 7-year-old DiGeorge syndrome patient with mediastinal mass shadow on her plain chest x-ray. She visited Severance Children's Hospital hospital with recurrent pneumonia, and throughout her repeated chest x-ray, there was a mass like shadow on anterior mediastinal area. We did full evaluation including chest computed tomography, chest ultrasonography, and chest magnetic resonance imaging. To rule out malignancy, video assisted thoracoscopic surgery was done. Final diagnosis of the mass which was thought to be malignancy, was lymphoproliferative lesion.

• Proceedings of the KOR-BRONCHOESO Conference
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• 1978.06a
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• pp.8.1-8
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• 1978

Waardenburgs syndrome is estimated to account for 1 to 7% of all congenital deafness. The primary features of the syndrome include lateral displacement of the medial canthi and lacrimal punctae, a flat nasal root, white forelock, unilateral or bilateral congenital deafness, some degree of heterochromia of the iris, and hyperplasia of the eyebrow. This syndrome was described at first by Waardenburg in 1951, and since that time there have been reports of the same syndrome in both the English (Partington, 1959) and American (Di George) literature. The authors have experienced 3 cases of Waardenburgs syndrom, and report these cases with literature review.

• Clinical and Experimental Pediatrics
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• v.45 no.3
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• pp.383-389
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• 2002

We experienced a case of partial DiGeorge syndrome in a $35^{＋5}$ week premature female infant presented with micrognathia, fish-shaped mouth, beaked nose, nasal regurgitation, obstructive sleep apnea, velopharyngeal insufficiency and late onset hypocalcemic seizures. The chromosome 22q11 microdeletion was found by the FISH method. The lab findings showed serum calcium level of 4.4 mg/dL, ionized calcium level of 0.49 mg/dL, phosphorous level of 7.5 mg/dL, magnesium level of 1.3 mg/dL and PTH-RIA level of <1 pq/mL. Initial treatment was done with 10% calcium gluconate infusion and magnesium sulfate followed by oral calcium gluconate and low phosphorousformula milk feeding. The serum calcium level was normalized in 6 days. Nasal regurgitation, desaturation with obstructive sleep apnea continued. T-cell functions & numbers(CD 3, CD 4, CD 8)were decreased but Ig G/A/M levels were normal. No visible signs of thymus shadow were seen in either chest X-ray & chest MRI. Electrocardiography and echocardiography showed normal heart. Kidney ultrasonographby showed right side mild hydronephrosis. Neurosonography was normal but EEG showed electrical partial seizure. Hearing assessment by BERA showed mild to moderate hearing impairment. Velopharyngoplasty is scheduled for further treatment. A brief review of literature was made.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.14 no.1
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• pp.36-40
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• 2018

CATCH22 syndrome or DiGeorge syndrome is a medical acronym of cardiac defects, abnormal facial appearances, thymic hypoplasia, cleft palate, and hypocalcemia. Patients with CATCH22 syndrome are susceptible to infection due to an absent or hypoplastic thymus and often have difficulties in maintaining good oral hygiene, which may require dental treatment. We present a case of dental treatment for the uncooperative child with CATCH22 syndrome under general anesthesia. A 4-year-old, 14.8 kg boy with CATCH22 syndrome visited Seoul National University Dental Hospital for dental check up. The patient had multiple caries requiring dental treatment. He experienced the corrective heart surgery due to Tetralogy of Fallot a few years ago. General anesthesia was planned because his heart rate and vital sign had shown unstable during the previous conscious sedation procedure. Dental restorative treatments were successfully performed and no complications were observed during and after the procedure. Safe and effective dental management of the patients with CATCH22 syndrome could be performed with the help of general anesthesia and careful monitoring.

• Pediatric Infection and Vaccine
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• v.30 no.3
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• pp.173-179
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• 2023

Complete DiGeorge syndrome (cDGS) refers to DGS with profound T cell deficiency. Herein, we present the case of an infant with cDGS suffering from refractory cytomegalovirus (CMV) infection and who was treated with CD45RA+ depleted lymphocyte infusion. The patient was diagnosed with cDGS by fluorescence in situ hybridization which verified 22q11.2 deletion and as well as by the observed profound T cell deficiency (CD3+ T cells 69/μL, CD4+ T cells 7/μL). On the 45th day of age, CMV viremia was first detected with a plasma viral load (VL) of 120,000 IU/mL. Ganciclovir treatment effectively reduced VL post 56 days of treatment; however, VL subsequently rebounded. A CMV UL97 phosphotransferase M460V mutation conferring ganciclovir resistance emerged and foscarnet was incorporated. Despite this, high titers of CMV viremia (VL 2,820,000 IU/mL) and CMV retinitis were complicated. To restore T cell immunity and treat refractory CMV infection, CD45RA+ depleted CMV-specific lymphocytes from the patient's father were infused twice on the 196th and 207th days after birth. After receiving the second infusion, a decline in CMV VL was observed, with a decrease to 87,100 IU/mL by the tenth day following infusion, despite the failure in maintaining T cell increase. The patient died of Pneumocystis jirovecii pneumonia and Elizabethkingia meningoseptica sepsis on the 222nd day after birth. CD45RA+ depleted lymphocyte infusion may be a therapeutic option for refractory CMV disease in cDGS patients.

• Journal of Chest Surgery
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• v.50 no.1
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• pp.44-46
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• 2017

We report the case of a newborn with a rare anatomic variation: a right aortic arch with a retroesophageal left subclavian artery and an anomalous origin of the pulmonary artery from the aorta. This variation was diagnosed using echocardiography and computed tomography, and we treated the condition surgically.