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Old 08-15-2011
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Default congenital defect leading to malignancy

Neonatology is consulted because a newborn baby is hypotonic. The obstetric history is insignificant except for the mom, who is 38 years old. On physical exam, the child has upward slanting palpebral fissures and ocular exam demonstrates white speckling of the iris. On cardiac auscultation, a harsh holosystolic murmur is heard best at the left lower sternal border. This child will have an increased risk for which of the following malignancies?
A. Wilms tumor
B. Acute Lymphoblastic Leukemia
C. Osteosarcoma
D. Hepatoblastoma
E. Gonadal dysgerminoma
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Old 08-15-2011
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Originally Posted by ricko335 View Post
Neonatology is consulted because a newborn baby is hypotonic. The obstetric history is insignificant except for the mom, who is 38 years old. On physical exam, the child has upward slanting palpebral fissures and ocular exam demonstrates white speckling of the iris. On cardiac auscultation, a harsh holosystolic murmur is heard best at the left lower sternal border. This child will have an increased risk for which of the following malignancies?
A. Wilms tumor
B. Acute Lymphoblastic Leukemia
C. Osteosarcoma
D. Hepatoblastoma
E. Gonadal dysgerminoma
At first I thought of WAGR complex but it doesn't seem to be, I think the little spec in iris = retinoblastoma.

MC associaed with Bladder Ca/Osteosarcoma.

Answer is C)
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Old 08-15-2011
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Osteosarcoma... if I am not wrong its the Rb gene?
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Old 08-15-2011
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Default Down's syndrome

Increased risk of ALL in Down's syndrome.
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I think its B) ALL .. increased risk in Down's ... Increased maternal age (38) and palpebral fissures.
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I agree that it seems to be Down syndrome, thus ALL
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The correct answer is B.
Infants born with Down Syndrome (Trisomy 21) are often hypotonic. The risk for trisomy increases greatly with maternal age over 35. They do not display the same muscular tone as healthy babies. This vignette describes several physical findings in Down's patients. They typically have the upward slanting palpebral fissure, as well as epicanthal folds. Ocular exam also shows Brushfield's spots (white speckling of the iris). These kids are at a much higher risk of being born with congenital heart disease, most likely an endocardial cushion defect, but VSDs (ventricular septal defects) are also common. The cardiac exam described above is typical of a VSD.

In addition to the findings described in the above vignette, Downs patients are also often born with duodenal atresia, which causes small bowel obstruction and the onset of bilious projectile vomiting soon after birth. Abdominal XR shows the classic "double bubble" sign (one bubble for the proximal duodenum, another bubble for the stomach). Remember, the vomitus is bilious because the obstruction is distal to the ampulla of Vater, where the bile duct enters the 2nd part of the duodenum (contrast this to hypertrophic pyloric stenosis, which causes nonbilious projectile vomiting in the newborn).

Down syndrome increases the risk for the development of two major illnesses: ALL (Acute Lymphoblastic Leukemia) and Alzheimers disease. These are extremely high yield associations!

Osteosarcoma is the most common malignant bone tumor seen in children. Patients with a mutated Rb gene are at an increased risk of having osteosarcoma.

Gonadal dysgerminoma is commonly seen in Turner's syndrome. Females born with Turner's are often described as having "streak" gonads, which are fibrotic ovaries which are non-functional (which explains why they present with amenorrhea). This fibrosis increases the risk for the development of dysgerminoma.

Hepatoblastoma is a tumor of the liver that is associated with Beckwith-Weidemann syndrome, which generally presents with macroglossia and hemihypertrophy. It is caused by a defect in the IGF-2 gene.

Wilms tumor is caused by a mutation to chromosome 11p at the WT1 gene. It is the most common renal malignancy in children. It is often associated with WAGR syndrome which in addition to the Wilms tumor also has aniridia (absence of an iris), genitourinary abnormalities and retardation.
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Old 08-16-2011
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B. Acute Lymphoblastic Leukemia
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