Child With Ataxia Telangiectasia Developing Acute Myeloid Leukemia

ASIA unversity > 醫學暨健康學院 > 生物科技學系 > 期刊論文 > Item 310904400/16430

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题名:	Child With Ataxia Telangiectasia Developing Acute Myeloid Leukemia
作者:	彭慶添
贡献者:	生物科技學系
日期:	2010-05
上传时间:	2012-11-23 09:12:59 (UTC+0)
摘要:	"An 11-year-old boy, who was diagnosed as having ataxia telangiectasia (AT) at 5 years of age, was referred to our hospital because of a right submandibular progressive enlarged mass for 2 months. He also suffered from being unstable to stand and recently had twisting of the trunk and tremorin all areas of his body. On physical examination, the patient looked pale and had multiple cervical lymphadenopathies and telangiectasia of the bulbar conjunctiva. His gums easily bled, and he had mild gingival hypertrophy. No hepatosplenomegaly or mucocutaneous petechiae were noted. Neurologic examination revealed nystagmus, squint, dysarthric speech, diminished reﬂexes, dysmetria, and ataxic gait. Laboratory investigations showed leukocytosis, anemia, and thrombocytopenia (WBC count 28,500/ L; platelets 59,000/ L; hemoglobin 5.2 g/L; hematocrit 27.5%). Biochemistry tests revealed ALT of 27 U/L, AST of 29 U/L, blood urea nitrogen of 9 mg/dL, creatinine of 0.5 mg/dL, and lactate dehydrogenase of 352 U/L. The -fetoprotein level was high (242 ng/mL). There were decreased levels of immunoglobulin (Ig) A (6.67 mg/dL) and IgE ( 0.1 mg/dL). Electrophysiologic study showed mild to moderate motorpredominant spinal motor pathology with sensory involvement. Brain magnetic resonance images revealed isolated cerebellar atrophy with small size of vermis (Fig 1). The ventricles were all normal. Analysis of theATMgene revealed compound heterozygousmutation (2413 C to T, arg805ter; 1402-3 del AA, lys468fs)."
關聯:	JOURNAL OF CLINICAL ONCOLOGY
显示于类别:	[生物科技學系] 期刊論文

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