It has been well known that 22q deletion syndrome (22qDS), encompasses several genetic syndromes associated with microdeletions at chromosome 22q11.2 became relatively generally identified in the 1990s through the availability of specialized chromosomal studies, and it includes such syndromes as velocardiofacial syndrome (VCFS), DiGeorge syndrome (DGS), Shprintzen syndrome, CATCH 22. The syndrome is characterized by distinctive dysmorphology, congenital heart disease, athymia, parathyroid disease, other congenital diseases, learning difficulties and various psychiatric illnesses. This syndrome is a common genetic condition often accompanied by mild cognitive impairment. Learning difficulties and anger outburst are also common in adolescence with this syndrome. In addition, a prevalence of major psychiatric disorders in adults' individuals are high, especially schizophrenia, schizoaffective disorder, bipolar disorder and other psychiatric illnesses, including simple or social phobia, depression, obsessive-compulsive disorder. We report a patient with facial dysmorphology, cleft lip and palate, ventricular septal defect, borderline IQ, poor impulse control and psychotic symptoms who was diagnosed schizophrenia and 22qDS by FISH analysis which finds 22q11.2 microdeletion.
22q11 Deletion Syndrome* ; Adolescent ; Anger ; Bipolar Disorder ; Cleft Lip ; Depression ; DiGeorge Syndrome ; Heart Defects, Congenital ; Heart Septal Defects, Ventricular ; Humans ; Learning ; Mild Cognitive Impairment ; Obsessive-Compulsive Disorder ; Palate ; Parathyroid Diseases ; Phobic Disorders ; Prevalence ; Psychotic Disorders ; Schizophrenia*

The cisterna chyli, a dilated lymphatic sac in the retrocrural space, is usually located to the right of the aorta. We report a case of a left-sided cisterna chyli, which was incidentally detected on the radiologic examinations of a preoperative workup for cholangiocarcinoma. Computed tomography (CT) and magnetic resonance (MR) images revealed a cisterna chyli measuring 2.5 cm in length in the left retrocrural space. The dilated lumbar lymphatics joined with the cisterna chyli, which was continuous with the left-sided thoracic duct. To the best of our knowledge, this is the second antemortem case of a left-sided cisterna chyli in literature. The cisterna chyli can mimic retrocrural lymphadenopathy, solid tumor with cystic degeneration, abscess or hematoma. The left-sided cisterna chyli should be referred to as a structure so as to be cautious in surgical approach.
Abscess ; Aorta ; Cholangiocarcinoma ; Hematoma ; Lymphatic Abnormalities ; Lymphatic Diseases ; Thoracic Duct

No abstract available.
DiGeorge Syndrome*

Neonatal hypocalcemia and congenital heart defects has been known as the first clinical manifestation of the chromosome 22q11.2 deletion syndrome (22q11DS). However, because of its wide clinical spectrum, diagnosis of 22q11DS can be delayed in children without classic symptoms. We report the case of a girl with the history of imperforate anus but without neonatal hypocalcemia or major cardiac anomaly, who was diagnosed for 22q11DS at the age of 11 after the onset of overt hypocalcemia. She was born uneventfully from phenotypically normal Korean parents. Imperforate anus and partial cleft palate were found at birth, which were surgically repaired thereafter. There was no history of neonatal hypocalcemia, and karyotyping by GTG banding was normal. At the age of 11, hypocalcemia (serum calcium, 5.0 mg/dL) and decreased parathyroid hormone level (10.8 pg/mL) was noted when she visited our Emergency Department for fever and vomiting. The 22q11DS was suspected because of her mild mental retardation and velopharyngeal insufficiency, and a microdeletion on chromosome 22q11.2 was confirmed by fluorescence in situ hybridization. The 22q11DS should be considered in the differential diagnosis of hypocalcemia at any age because of its wide clinical spectrum.
22q11 Deletion Syndrome* ; Anal Canal* ; Anus, Imperforate ; Calcium ; Child* ; Cleft Palate ; Delayed Diagnosis* ; Diagnosis ; Diagnosis, Differential ; DiGeorge Syndrome ; Emergency Service, Hospital ; Female* ; Fever ; Fluorescence ; Heart Defects, Congenital ; Humans ; Hypocalcemia* ; Hypoparathyroidism ; In Situ Hybridization ; Intellectual Disability ; Karyotyping ; Parathyroid Hormone ; Parents ; Parturition ; Velopharyngeal Insufficiency ; Vomiting

Child, Preschool ; Humans ; Lymphatic Abnormalities ; diagnosis ; therapy ; Male ; Middle Aged

Lymphatic malformation is a congenital abnormality of the lymphatic system, which manifests frequently at birth or before 2 years of age. Lymphatic malformations are classified as macrocystic or microcystic. Microcystic lesions typically occur above the level of mylohyoid muscle and need conservative treatment rather than surgical resection because of the high rate of incomplete excision and recurrence. We report our experience with two cases of radiofrequency ablation of lymphatic malformation in the oral cavity recently seen in our practice.
Congenital Abnormalities ; Lymphatic System ; Mouth ; Muscles ; Parturition ; Recurrence

The presence of aberrant thyroid tissue in the lateral neck is very rare. In addition, nodular hyperplasia in ectopic thyroid has rarely been reported. Due to the unusual location, the presence of lateral aberrant thyroid tissue could be misdiagnosed as a lymphadenopathy, neurogenic tumor, etc. We report on a case of nodular hyperplasia arising from the right lateral aberrant thyroid tissue.
Congenital Abnormalities ; Hyperplasia ; Lymphatic Diseases ; Neck ; Thyroid Dysgenesis ; Thyroid Gland

Microcystic lymphatic malformation (lymphangioma circumscriptum) is the most common cutaneous lymphatic malformation, consisting of abnormal, dilated, and tortuous lymphatic vessels in the dermis and subcutaneous tissue. It is due to irregular vessel contraction with subsequent dilatation and fluid build-up that manifests clinically as multiple, grouped, small macroscopic superficial vesicles filled with clear or serosanguineous fluid. The lesions are frequently located over proximal limbs, axillae and chest but may occur on any part of the body. We report a case of lymphangioma circumscriptumin a four-year-old child, partially treated with fractional carbon dioxide laser ablation under local anesthesia. Most of the lesions resolved but the treated areas healed with hypertrophic scarring after one month, which was cosmetically acceptable. Compared to surgical excision, carbon dioxide laser ablation may provide less chances of contractures especially in areas overlying a joint and may be considered as an alternative to more invasive procedures.

Human ; Female ; Child Preschool ; Anesthesia, Local ; Axilla ; Cicatrix ; Contracture ; Dermis ; Dilatation ; Lasers, Gas ; Lymphangioma ; Lymphatic Abnormalities ; Lymphatic Vessels ; Subcutaneous Tissue

Lymphangiomatosis is a condition of lymphatic tissue malformation with multiple or diffuse involvement of soft tissues, visceral organs. Congenital abnormalities of the lymphatic system are very rare, and reports of congenital lymphangiomatosis are even fewer. We experienced a case of congenital lymphangiomatosis detected as edema of the right limb by prenatal ultrasonography and then diagnosed by magnetic resonance imaging. We describe this case with a brief review of the literature.
Congenital Abnormalities ; Edema ; Extremities ; Lower Extremity ; Lymphatic System ; Lymphoid Tissue ; Magnetic Resonance Imaging ; Ultrasonography, Prenatal

BACKGROUND: Lymphatic malformation (LM) is a form of congenital vascular malformation with a low incidence. Although LM has been studied, no consensus has emerged regarding its cause or treatment. METHODS: In this study, we retrospectively evaluated 40 patients who visited our vascular anomalies center for the treatment of cervicofacial LM, which is a common manifestation of LM. The medical records of patients over a period of 12 years were reviewed and analyzed for commonalities regarding the diagnosis and the results of treatment. RESULTS: Suspected cervicofacial LM was confirmed through imaging studies. No difference in incidence was observed according to sex, and 73% of patients first presented with symptoms before the age of two years. The left side and the V2-V3 area were most commonly affected. No significant differences in incidence were observed among the macrocystic, microcystic, and combined types of LM. A total of 28 out of 36 patients received sclerotherapy as the first choice of treatment, regardless of the type of lesion. Complete resolution was achieved in only 25% of patients. CONCLUSIONS: LM is important to confirm the diagnosis early and to choose an appropriate treatment strategy according to the stage of the disease and each individual patient's symptoms. When treatment is delayed or an incorrect treatment is administered, patient discomfort increases as the lesion gradually spreads. Therefore, more so than is the case for most other diseases, a team approach on a case-by-case basis is important for the accurate and appropriate treatment of LM.
Consensus ; Diagnosis ; Humans ; Incidence ; Lymphangioma ; Lymphatic Abnormalities ; Medical Records ; Retrospective Studies* ; Sclerotherapy ; Vascular Malformations