Beruflich Dokumente
Kultur Dokumente
Case 9
2-WEEK-OLD WITH LETHARGY - CRIMSON
Author: Robert Wittler, M.D., University of Kansas.
Learning Objectives
1. Create a neonatal history using appropriate sources: hospital chart, mother,
nursing staff.
2. Develop a list of factors in the maternal and newborn history that may put a
newborn at risk for medical problems.
3. Describe possible complications of a home delivery and how they can be
minimized.
4. Construct a diagnostic approach to a newborn with lethargy.
5. Compare and contrast the clinical manifestations of congenital
hypothyroidism relative to a normal newborn.
6. Describe core diseases screened for by neonatal blood screening.
7. Develop a strategy for educating families on the value of early
treatment/management of conditions that are included in the newborn
screen.
1 of 7 3/30/12 1:25 PM
medU | Instructors http://www.med-u.org/communities/instructors/clipp/case_sum...
Large fontanels
Normal facies
Jaundice without bruising
Key Findings from Physical
Umbilical hernia
Exam
No virilization
Hypotonia without tremors or
clonus
2 of 7 3/30/12 1:25 PM
medU | Instructors http://www.med-u.org/communities/instructors/clipp/case_sum...
Newborn testing
Follow-up of abnormal screening results to facilitate timely diagnostic
testing and management
Diagnostic testing
Coordinating disease management with the medical home and genetic
counseling
Continuous evaluation and improvement of the newborn screening system
Benefits of screening
Risks of screening
Etiology
Epidemiology
Usually not evident until after six weeks of age due to placental
transmission of maternal thyroid hormone.
3 of 7 3/30/12 1:25 PM
medU | Instructors http://www.med-u.org/communities/instructors/clipp/case_sum...
Diagnosis
Reference:
Ballal SA and McIntosh P: Endocrinology. In: Custer JW and Rau RE: The Harriet
Lane Handbook, 18th Ed., Elsevier/Mosby, Philadelphia, 2009, p. 274-275.
Skills
History:
Breastfeeding assessment: Human milk is the preferred feeding for all infants,
including premature and sick newborns, with rare exceptions (human
immunodeficiency virus [HIV]infected mother):
4 of 7 3/30/12 1:25 PM
medU | Instructors http://www.med-u.org/communities/instructors/clipp/case_sum...
Physical exam:
Fontanels
Lethargy
Differential diagnosis
More Likely Diagnses
5 of 7 3/30/12 1:25 PM
medU | Instructors http://www.med-u.org/communities/instructors/clipp/case_sum...
facies, enlarged and protruding tongue, a hoarse cry, and delayed growth
and development. Constipation is common.
2. Down syndrome: Typically hypotonic at birth and in the first months of
life. May feed poorly. Review of systems otherwise normal.
3. Congenital adrenal hyperplasia (CAH): Decreased feeding and activity
are common in infants with CAH. Salt-losing CAH presents with irritability,
lethargy, vomiting, and dehydration that can progress to shock. Many, but
not all, states screen for CAH.
4. Hypoglycemia: Clinical manifestations of hypoglycemia are variable, and
infants are frequently asymptomatic. Typical signs in a newborn include
jitteriness, irritability, hypothermia, tremors, hypotonia, poor feeding, and
seizures.
Botulism: Infants with botulism present with a poor suck and weak cry. A rare
diagnosis (about 900 cases reported worldwide), and usually presents a little later
(median onset three to four months of age).
Polycythemia: Occurs when the hematocrit is above the normal limit for
gestational age (usually defined as > 65% in a term newborn). Many infants are
asymptomatic, and hematocrits are not routinely checked. Associated symptoms
include altered mental status, poor feeding, plethora (an excess of blood in the
circulatory system or in one organ or area), acrocyanosis, and hyperbilirubinemia.
Typically, this condition occurs in the first few hours to days of life.
Studies
T4,TSH: T4 expected to be low and TSH elevated in congenital hypothyroidism.
Serum sodium and potassium: In a patient with CAH, low sodium and high
potassium would be expected. Even though congenital adrenal hyperplasia (CAH)
is very unlikely in the absence of virilization, serum sodium and potassium are
6 of 7 3/30/12 1:25 PM
medU | Instructors http://www.med-u.org/communities/instructors/clipp/case_sum...
Newborn metabolic screen: Every infant born in the U.S. should be screened
shortly after birth using heel-stick blood spots to detect a variety of congenital
conditions. Conditions included in newborn screening are congenital
hypothyroidism, congenital adrenal hyperplasia, hemoglobinopathies (sickle cell
disease), biotinidase deficiency, galactosemia, phenylketonuria, and cystic
fibrosis.
Management
1. Consultation with a pediatric endocrinologist
Back to Top
7 of 7 3/30/12 1:25 PM