Question

You are called urgently to examine a term, 2-hour-old newborn who has had temperature instability, difficulty with feeding, and a sus- pected seizure. He has atypical facies (wide-set eyes, a prominent nose, and a small mandible), a cleft palate, and a holosystolic murmur. Stat laboratory tests and chest radiograph reveal marked hypocalcemia, a boot-shaped heart, and no apparent thymus. Which of the following is the most likely diagnosis?

A. Ataxia–telangiectasia
B. DiGeorgesyndrome
C. Hyper-IgE syndrome
D. SCID
E. Wiskott-Aldrich syndrome

Answer 1

Answer:

Answer is B. DiGeorge syndrome.

Explanation:

DiGeorge syndrome is a disorder which is caused when part of chromosome 22 is missing. This results in several body systems developing poorly. It is caused when there is abnormal formation of certain issues during fetal development.

One of the symptoms is epileptic seizure.

DiGeorge syndrome is also referred to as the velocardiofacial syndrome.