| Abstract: | "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)." |
