A 3-month-old female presents with intention tremors, dystonia, ...

[jlmhmf]

A 3-month-old female presents with intention tremors, dystonia, greenish-yellow rings in the cornea, and hepatomegaly. Tests reveal a defect on chromosome 13. Which of the following is the most likely diagnosis?
 
  a. Galactosemia
  b. Fructosemia
  c. Wilson disease
  d. Cirrhosis

Question 2

A 1-week-old female is brought to her pediatrician for abdominal distention and unstable tem-perature. Physical examination reveals bradycardia and apnea. Tests reveal portal venous gas and an intestinal perforation. This condition is referred to as:
 
  a. infective enteropathy.
  b. necrotizing enterocolitis (NEC).
  c. mucoviscidosis.
  d. ileus.

[DylanD1323]

Answer to Question 1

ANS: C
Wilson disease is manifested by dystonia and greenish-yellow rings in the cornea.
Galactosemia is manifested by high levels of blood galactose and vomiting. Fructosemia is mani-fested by high levels of blood fructose and hepatomegaly but not dystonia and rings in the cor-nea. Cirrhosis is manifested by hepatomegaly but not dystonia and greenish-yellow rings in the cornea.

Answer to Question 2

ANS: B
NEC includes feeding intolerance, abdominal distention, and bloody stools after 8-10 days of age, septicemia with elevated white blood cells, and falling platelet counts. Unstable temperature, bradycardia, and apnea are nonspecific signs. NEC is an ischemic, inflammatory condition of the bowel that causes necrosis, perforation, and death, if untreated. Infective enteropathy may be related to infection, but it is not necrotic. Mucoviscidosis is related to cystic fibrosis. Ileus is manifested by decreased bowel sounds but not ischemia.

[jlmhmf]

Thanks for the timely response, appreciate it

[kswal303]

TYSM