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You are called to see a newborn in the nursery because the nurse is concerned that the baby may have Down syndrome.
The infant begins to have progressively large amounts of bilious emesis. The infant feeds well and has only a small amount of abdominal distention.
What is the most likely diagnosis?

  1. pyloric stenosis
  2. Hirschsprung disease
  3. biliary atresia
  4. duodenal atresia
  5. milk protein allergy

Answer(s): D

Explanation:

The most common finding in a newborn with Down syndrome is hypotonia. Other common findings include single palmar crease, flat facial profile, macroglossia, and wide space between the first and second toes. Hypotonia in the newborn period should prompt close evaluation and follow-up. Café au lait spots are associated with neurofibromatosis. High arched palates are associated with fragile X syndrome.
Ambiguous genitalia are commonly seen in CAH.

Children with Down syndrome are at an increased risk for hypothyroidism. It may be hard to detect without routine laboratory screening as they will commonly have mental retardation and developmental delay as part of their syndrome. Hypothyroidism may not be present in the immediate newborn period and requires, at a minimum, annual testing throughout the child's life. The other findings listed are not specifically associated with Down syndrome. Lens dislocation is commonly found with Marfan syndrome or homocysteinuria.

Children with Down syndrome have an increased prevalence of duodenal atresia. Pyloric stenosis is uncommon to see in the newborn period. It tends to present with nonbilious vomiting usually after 24 weeks of age. Hirschsprung disease (aganglionosis coli) presents with constipation and failure to pass stool. Infants with Hirschsprung disease commonly will not pass stool in the first days of life. Biliary atresia is a progressive cause of jaundice in an infant. It is the most common cause of a cholestatic jaundice in the newborn period. Emesis is not typically associated with biliary atresia. Milk protein allergy is a common cause of bloody stools in the first few months of life, but does not have bilious emesis associated with it.



You are called to see a newborn in the nursery because the nurse is concerned that the baby may have Down syndrome.

If you were to perform an abdominal x-ray, what is the most likely finding that would be seen?

  1. "double-bubble" sign
  2. scimitar sign
  3. normal gas patterns
  4. free fluid in the abdomen
  5. pneumatosis intestinalis

Answer(s): A

Explanation:

The most common finding in a newborn with Down syndrome is hypotonia. Other common findings include single palmar crease, flat facial profile, macroglossia, and wide space between the first and second toes. Hypotonia in the newborn period should prompt close evaluation and follow-up. Café au lait spots are associated with neurofibromatosis. High arched palates are associated with fragile X syndrome.
Ambiguous genitalia are commonly seen in CAH.

Children with Down syndrome are at an increased risk for hypothyroidism. It may be hard to detect without routine laboratory screening as they will commonly have mental retardation and developmental delay as part of their syndrome. Hypothyroidism may not be present in the immediate newborn period and requires, at a minimum, annual testing throughout the child's life. The other findings listed are not specifically associated with Down syndrome. Lens dislocation is commonly found with Marfan syndrome or homocysteinuria.
Children with Down syndrome have an increased prevalence of duodenal atresia. Pyloric stenosis is uncommon to see in the newborn period. It tends to present with nonbilious vomiting usually after 24 weeks of age. Hirschsprung disease (aganglionosis coli) presents with constipation and failure to pass stool. Infants with Hirschsprung disease commonly will not pass stool in the first days of life. Biliary atresia is a progressive cause of jaundice in an infant. It is the most common cause of a cholestatic jaundice in the newborn period. Emesis is not typically associated with biliary atresia. Milk protein allergy is a common cause of bloody stools in the first few months of life, but does not have bilious emesis associated with it.



You are called to see a newborn in the nursery because the nurse is concerned that the baby may have Down syndrome.

What is the most common central nervous system (CNS) complication of Down syndrome?

  1. seizures
  2. hydrocephalus
  3. microcalcifications
  4. berry aneurysms
  5. mental retardation

Answer(s): E

Explanation:

The most common finding in a newborn with Down syndrome is hypotonia. Other common findings include single palmar crease, flat facial profile, macroglossia, and wide space between the first and second toes. Hypotonia in the newborn period should prompt close evaluation and follow-up. Café au lait spots are associated with neurofibromatosis. High arched palates are associated with fragile X syndrome.
Ambiguous genitalia are commonly seen in CAH.

Children with Down syndrome are at an increased risk for hypothyroidism. It may be hard to detect without routine laboratory screening as they will commonly have mental retardation and developmental delay as part of their syndrome. Hypothyroidism may not be present in the immediate newborn period and requires, at a minimum, annual testing throughout the child's life. The other findings listed are not specifically associated with Down syndrome. Lens dislocation is commonly found with Marfan syndrome or homocysteinuria.

Children with Down syndrome have an increased prevalence of duodenal atresia. Pyloric stenosis is uncommon to see in the newborn period. It tends to present with nonbilious vomiting usually after 24 weeks of age. Hirschsprung disease (aganglionosis coli) presents with constipation and failure to pass stool. Infants with Hirschsprung disease commonly will not pass stool in the first days of life. Biliary atresia is a progressive cause of jaundice in an infant. It is the most common cause of a cholestatic jaundice in the newborn period. Emesis is not typically associated with biliary atresia. Milk protein allergy is a common cause of bloody stools in the first few months of life, but does not have bilious emesis associated with it.



Afather and son come to your office because of persistent diarrhea. They relate the presence of watery diarrhea for over 2 weeks. They noted that the diarrhea began after returning from a Boy Scout camping trip in the Rocky Mountains. The diarrhea has waxed and waned for 2 weeks. It is nonbloody and foul smelling. They have had increased flatulence and mild abdominal cramping.

What is the most likely etiology of their diarrhea?

  1. enterotoxigenic Escherichia coli
  2. Giardia lamblia
  3. Rickettsia rickettsii (Rocky Mountain spotted fever [RMSF])
  4. rotavirus
  5. Norwalk virus

Answer(s): B

Explanation:

G. lamblia is a common protozoan which can be acquired by ingesting unfiltered water. It is seen frequently in people who drink fresh stream water. It is a cause of chronic, nonbloody diarrhea. There is typically a large amount of gas and cramping associated with Giardia infections. RMSF does not typically cause a gastroenteritis. Children with RMSF will commonly have fevers, headaches, and a petechial rash. Rotavirus and Norwalk viruses typically cause acute, self-limited gastroenteritis. The diarrhea is nonbloody, nonmucousy, and typically lasts a few days. The most appropriate treatment for giardiasis is oral metronidazole. Oral rehydration is an important mainstay in the treatment of diarrhea of any cause but is not a specific treatment for giardiasis. Ciprofloxacin is commonly used for traveler's diarrhea caused by E.
coli.






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