ABSTRACT
A long arm deletion of chromosome 2 is very rarely reported. Particular deletion uniformly resulted in developmental delays, craniofacial changes, and occasionally resulted in microcephaly, low set ears, and hand and foot abnormalities. We experienced a case of partial monosomy 2 in a 5-months-old girl, who showed low set ears, hypertelorism, low nasal bridges, small mouth, cleft palate, inguinal hernia. Chromosome analysis on a G banding with high resolution showed a deletion of the long arm of chromosome 2. Her karyotype was designated as 46, XX, del (2) (q33q35). A brief review of the literature is also presented.
Subject(s)
Female , Humans , Arm , Chromosome Aberrations , Chromosome Deletion , Chromosomes, Human, Pair 2 , Cleft Palate , Ear , Foot , Hand , Hernia, Inguinal , Hypertelorism , Karyotype , Microcephaly , MouthABSTRACT
PURPOSE: This study was undertaken to evaluate the clinical features and complication such as esophageal stricture in children with corrosive esophagitis. METHODS: We retrospectively reviewed medical records of 31 children who accidentally ingested corrosive materials and visited to emergency room of Chonnam National University Hospital from Jan. 1992 to Dec. 1999. Twenty-one children were examined by upper gastrointestinal(UGI) endoscopy to evaluate location and severity of caustic injury. RESULTS: 1) Among 31 patients, there were 20 males and 11 females and the ratio of male to female was 2:1. Average age at diagnosis was 2.3 years (12months to 9.8 years). Twenty-seven(87.1%) patients were accidentally ingested vinegar. 2) Initial presenting symptoms were dysphagia(54.8%), vomiting(48.3%), chemical burn on lips and skin(45.2%), excessive salivation(45.2%), coughing and respiratory grunting(32.3%) and aspiration pneumonia(9.8%). 3) UGI endoscopic examination showed caustic injury in 17 children : grade I in 8, grade II in 7 and grade III in 2. The region of caustic injury was proximal esophagus in 5, distal esophagus in 3, entire esophagus in 9 and stomach in 6. 4) Corrosive esophageal strictures developed in 6 children(19.4%) and gastric outlet stricture in 1(3.2%). All of them showed grade II or III caustic injury on endoscopic examination. CONCLUSION: The development of esophageal stricture was related to the severity of the caustic injury. Early UGI endoscopic examination in caustic ingestion seems to be useful for prediction of development of caustic stricture.
Subject(s)
Child , Female , Humans , Male , Acetic Acid , Burns, Chemical , Constriction, Pathologic , Cough , Diagnosis , Eating , Emergency Service, Hospital , Endoscopy , Esophageal Stenosis , Esophagitis , Esophagus , Lip , Medical Records , Retrospective Studies , StomachABSTRACT
Sometimes physicians and clinical pathologists find very high levels of alkaline phosphatase (ALP) activity in their patients. This condition is associated with transient, marked increase in serum ALP in healthy infants and children. It has also been described in adults. Clinical and biochemical features of transient hyperphosphatasemia in infancy and early childhood are reviewed in six patients that we have studied. The diagnosis is suggested by findings of increased activity of alkaline phosphatase in plasma, typically more than fivefold the upper reference value for adult, in a child under five years of age, without evidence of liver or bone disease. The condition is confirmed by the presence of a characteristic pattern of alkaline phosphatase isoenzymes and by the normalization of enzyme activity in plasma within approximately six months after the original observation. The etiology of the condition and possible mechanism of the elevated ALP is discussed.