NURS 6451
WEEK 10 QUESTION AND
ANSWERS.
Question 1
A 7-day-old baby boy is brought to the hospital because of persistent vomiting and diarrhea,
predominantly after being fed. He is noted to be jaundiced, and examination demonstrates
hypotonia and hepatosplenomegaly. Reducing substances are detected in the urine.
A presumptive diagnosis of galactosemia is made.
Which of the following statements regarding this disorder is CORRECT?
Show Explanation
Correct answer: (C) It is inherited in an autosomal recessive fashion.
Explanation: Galactosemia is an autosomal recessive disorder that presents in newborns.
(A) There are three enzymatic defects that account for galactosemia: galactose-1-phosphate
uridyltransferase deficiency, galactokinase deficiency, and uridine diphosphate galactose 4_
epimerase deficiency.
(B) Galactose- 1-phosphate uridyltransferase deficiency causes classic galactosemia and is the
only type associated with intellectual disability. Patients present in the first days of life with
feeding difficulties, vomiting, diarrhea, and jaundice. They also have hepatomegaly, failure to
thrive, lethargy, and hypotonia. Cataracts also occur and are caused by an accumulation of
galactitol. Late neurologic sequelae include developmental delay, cognitive impairment, ataxia,
and tremor, with brain MRI demonstrating white matter changes and cortical and cerebellar
atrophy.
Prenatal diagnosis of galactosemia can be made, and newborn screening is available for this
condition, thus allowing for treatment prior to the onset of symptoms. The diagnosis can be
presumed in patients presenting with the clinical manifestations described, and the detection of
reducing substances in the urine, especially after feeding. The enzymatic defect can be detected
in plasma and/or erythrocytes.
(D) Lactose and galactose should be immediately restricted from the diet. This intervention may
reverse cataracts and hepatomegaly and may prevent progression of neurologic disease.
However, despite this intervention, these patients may develop long-term neurologic sequelae,
including learning disability, cognitive impairment, ataxia, and tremor.
References:
©2011 Wolters Kluwer Health Lippincott Williams & Wilkins N2013E. All rights reserved
, Multiple Choice Responses
A.
Galactose-1-phosphate uridyltransferase deficiency is the only defect associated with galactosemia.
B.
All types of the disorder are associated with cataracts.
C.
It is inherited in an autosomal recessive fashion.
D.
The treatment is supplementation with lactose and galactose.
Flag question for later
Question 2
A 6-month-old infant falls out of her high chair onto the kitchen floor and is brought by her
parents for evaluation. The parents note that there was no definite loss of consciousness (LOC),
vomiting, or seizure activity. She has not been abnormally sleepy, but her parents note that she
should be hungry at this time and has been refusing feeds. Her physical examination, including
neurologic examination, is unremarkable. Which of the following is the most appropriate next
step in management?
Show Explanation
Correct answer: (C) CT brain.
Explanation: Head trauma accounts for the large majority of all pediatric traumatic deaths.
Children's heads are proportionally larger and heavier relative to the rest of their bodies than
adults and are more likely to be seriously injured. Minor head trauma in patients under the age of
2 is generally defined as a history or physical signs of blunt trauma to the scalp, skull, or brain in
an infant or child who is alert or awakens to voice or light touch.Evaluation of children with
minor head trauma targets identification of those patients with traumatic brain injury (TBI) who
may require immediate intervention, such as expanding epidural hematoma, or who require
neuroimaging or admission for monitoring, including patients with small stable epidural
hematomas. Historical features that may suggest an increased risk of clinically important
traumatic brain include caregiver concern that a child younger than two years of age is not acting
normally, which is true in the case presented here. There are clinical decisions to assist with
, identification of children who do not require neuroimaging, including the PECARN rule, which
is widely used.The PECARN rule consists of six low-risk predictors in two age groups. The goal
of this decision rule is to identify children who are at low risk for ciTBI and do not need
neuroimaging. Low risk indicators include the following in children under the age of 2:
- Normal mental status
- Normal behavior per routine caregiver
- No LOC
- No severe mechanism of injuryΔ
- No nonfrontal scalp hematoma
- No evidence of skull fracture
Controversy exists as to whether brief LOC should be considered as a sole indication for CT scan
in the older child, but in the infant it is an accepted indication given the difficulty of neurologic
examination. The EP is legally mandated to report cases of suspected child abuse, but a clear,
consistent history with a normal physical examination is less likely to have high potential for
abuse. Skull X-rays are almost never indicated in head trauma as they do not often change
management and require further testing with CT scan anyway if abnormal. MRI offers little
benefit over CT scan in the acute setting and is much more technically difficult in the infant.
Discharging the patient home without CT scan or serial neurologic examinations is not
recommended.
Multiple Choice Responses
A.
Contact Department of Children and Family Services (DCFS)
B.
Skull X-rays
C.
CT brain
D.
MRI brain
, Question 3
A newborn is evaluated 48 hours after birth because of seizures. The mother reports that the baby
refused feeding and seemed irritable in the first few hours of life. The patient subsequently
developed respiratory failure and required intubation.
An extensive workup is obtained, and a brain MRI is shown below. A high glycine level in the
CSF is also found.
Which of the following statements regarding this condition is CORRECT?
Show Explanation
Correct answer: (B) Patients who survive the acute phase are left with intellectual disability,
spasticity, and epilepsy.
Explanation: The MRI shows partial agenesis of the corpus callosum. A diagnosis of glycine
encephalopathy (formerly called nonketotic hyperglycinemia) can be made on the basis of this
MRI finding, along with the clinical picture and the high CSF glycine levels.
Onset is seen in newborns who, within a few hours after birth, become irritable with poor feeding
and hiccups. Subsequently, they develop a progressive encephalopathy with hypotonia,
myoclonic seizures, and respiratory failure requiring mechanical ventilation. Patients who
survive the acute phase will have intellectual disability, spasticity, and epilepsy.
(A) This patient has a disorder of glycine degredation.
(C) Available treatment options for this condition are limited and not effective.
Dextromethorphan and ketamine can be used to inhibit NMDA receptor excitation by glycine.
(D) Glycine encephalopathy is inherited in an autosomal recessive fashion.
References:
©2011 Wolters Kluwer Health Lippincott Williams & Wilkins N2013E. All rights reserved.
WEEK 10 QUESTION AND
ANSWERS.
Question 1
A 7-day-old baby boy is brought to the hospital because of persistent vomiting and diarrhea,
predominantly after being fed. He is noted to be jaundiced, and examination demonstrates
hypotonia and hepatosplenomegaly. Reducing substances are detected in the urine.
A presumptive diagnosis of galactosemia is made.
Which of the following statements regarding this disorder is CORRECT?
Show Explanation
Correct answer: (C) It is inherited in an autosomal recessive fashion.
Explanation: Galactosemia is an autosomal recessive disorder that presents in newborns.
(A) There are three enzymatic defects that account for galactosemia: galactose-1-phosphate
uridyltransferase deficiency, galactokinase deficiency, and uridine diphosphate galactose 4_
epimerase deficiency.
(B) Galactose- 1-phosphate uridyltransferase deficiency causes classic galactosemia and is the
only type associated with intellectual disability. Patients present in the first days of life with
feeding difficulties, vomiting, diarrhea, and jaundice. They also have hepatomegaly, failure to
thrive, lethargy, and hypotonia. Cataracts also occur and are caused by an accumulation of
galactitol. Late neurologic sequelae include developmental delay, cognitive impairment, ataxia,
and tremor, with brain MRI demonstrating white matter changes and cortical and cerebellar
atrophy.
Prenatal diagnosis of galactosemia can be made, and newborn screening is available for this
condition, thus allowing for treatment prior to the onset of symptoms. The diagnosis can be
presumed in patients presenting with the clinical manifestations described, and the detection of
reducing substances in the urine, especially after feeding. The enzymatic defect can be detected
in plasma and/or erythrocytes.
(D) Lactose and galactose should be immediately restricted from the diet. This intervention may
reverse cataracts and hepatomegaly and may prevent progression of neurologic disease.
However, despite this intervention, these patients may develop long-term neurologic sequelae,
including learning disability, cognitive impairment, ataxia, and tremor.
References:
©2011 Wolters Kluwer Health Lippincott Williams & Wilkins N2013E. All rights reserved
, Multiple Choice Responses
A.
Galactose-1-phosphate uridyltransferase deficiency is the only defect associated with galactosemia.
B.
All types of the disorder are associated with cataracts.
C.
It is inherited in an autosomal recessive fashion.
D.
The treatment is supplementation with lactose and galactose.
Flag question for later
Question 2
A 6-month-old infant falls out of her high chair onto the kitchen floor and is brought by her
parents for evaluation. The parents note that there was no definite loss of consciousness (LOC),
vomiting, or seizure activity. She has not been abnormally sleepy, but her parents note that she
should be hungry at this time and has been refusing feeds. Her physical examination, including
neurologic examination, is unremarkable. Which of the following is the most appropriate next
step in management?
Show Explanation
Correct answer: (C) CT brain.
Explanation: Head trauma accounts for the large majority of all pediatric traumatic deaths.
Children's heads are proportionally larger and heavier relative to the rest of their bodies than
adults and are more likely to be seriously injured. Minor head trauma in patients under the age of
2 is generally defined as a history or physical signs of blunt trauma to the scalp, skull, or brain in
an infant or child who is alert or awakens to voice or light touch.Evaluation of children with
minor head trauma targets identification of those patients with traumatic brain injury (TBI) who
may require immediate intervention, such as expanding epidural hematoma, or who require
neuroimaging or admission for monitoring, including patients with small stable epidural
hematomas. Historical features that may suggest an increased risk of clinically important
traumatic brain include caregiver concern that a child younger than two years of age is not acting
normally, which is true in the case presented here. There are clinical decisions to assist with
, identification of children who do not require neuroimaging, including the PECARN rule, which
is widely used.The PECARN rule consists of six low-risk predictors in two age groups. The goal
of this decision rule is to identify children who are at low risk for ciTBI and do not need
neuroimaging. Low risk indicators include the following in children under the age of 2:
- Normal mental status
- Normal behavior per routine caregiver
- No LOC
- No severe mechanism of injuryΔ
- No nonfrontal scalp hematoma
- No evidence of skull fracture
Controversy exists as to whether brief LOC should be considered as a sole indication for CT scan
in the older child, but in the infant it is an accepted indication given the difficulty of neurologic
examination. The EP is legally mandated to report cases of suspected child abuse, but a clear,
consistent history with a normal physical examination is less likely to have high potential for
abuse. Skull X-rays are almost never indicated in head trauma as they do not often change
management and require further testing with CT scan anyway if abnormal. MRI offers little
benefit over CT scan in the acute setting and is much more technically difficult in the infant.
Discharging the patient home without CT scan or serial neurologic examinations is not
recommended.
Multiple Choice Responses
A.
Contact Department of Children and Family Services (DCFS)
B.
Skull X-rays
C.
CT brain
D.
MRI brain
, Question 3
A newborn is evaluated 48 hours after birth because of seizures. The mother reports that the baby
refused feeding and seemed irritable in the first few hours of life. The patient subsequently
developed respiratory failure and required intubation.
An extensive workup is obtained, and a brain MRI is shown below. A high glycine level in the
CSF is also found.
Which of the following statements regarding this condition is CORRECT?
Show Explanation
Correct answer: (B) Patients who survive the acute phase are left with intellectual disability,
spasticity, and epilepsy.
Explanation: The MRI shows partial agenesis of the corpus callosum. A diagnosis of glycine
encephalopathy (formerly called nonketotic hyperglycinemia) can be made on the basis of this
MRI finding, along with the clinical picture and the high CSF glycine levels.
Onset is seen in newborns who, within a few hours after birth, become irritable with poor feeding
and hiccups. Subsequently, they develop a progressive encephalopathy with hypotonia,
myoclonic seizures, and respiratory failure requiring mechanical ventilation. Patients who
survive the acute phase will have intellectual disability, spasticity, and epilepsy.
(A) This patient has a disorder of glycine degredation.
(C) Available treatment options for this condition are limited and not effective.
Dextromethorphan and ketamine can be used to inhibit NMDA receptor excitation by glycine.
(D) Glycine encephalopathy is inherited in an autosomal recessive fashion.
References:
©2011 Wolters Kluwer Health Lippincott Williams & Wilkins N2013E. All rights reserved.
