CRETINISM

Case Study in Pediatric Ward

Submitted by:

Morales, Monica Marie A.

BSN – III A2b

Submitted to:

Mr. Romeo T. Papa, RN

Clinical Instructor

August 4, 2010
I. INTRODUCTION

Cretinism or congenital hypothyroidism is inadequate thyroid hormone production in

newborn infants. This can occur because of an anatomic defect in the gland, an inborn error of
thyroid metabolism, or iodine deficiency. If left untreated, it results in irreversible damage to the
central nervous system and developmental defects.

The term endemic cretinism is used to describe clusters of infants with goiter and
hypothyroidism in a defined geographic area. Such areas were discovered to be low in iodine,
and the cause of endemic cretinism was determined to be iodine deficiency.

The term sporadic cretinism was initially used to describe the random occurrence of
cretinism in non-endemic areas. The cause of these abnormalities was identified as
nonfunctioning or absent thyroid glands. This led to replacement of the descriptive term sporadic
cretinism with the etiologic term congenital hypothyroidism. Treatment with thyroid
replacement therapy was found to elicit some improvement in these infants, although many
remained impaired.

The chances of a child contracting this condition are very small. Data from most countries
with well-established newborn screening programs indicate an incidence of congenital
hypothyroidism of about 1 per 4000 births (United States) so this show just how remote this
condition can be. Some of the highest incidences (1 in 1400-2000 births) have been reported from
various locations in the Middle East. Most studies of congenital hypothyroidism suggest a
female-to-male ratio of a 2:1.

Early diagnosis and treatment of congenital hypothyroidism prevents severe mental

retardation and other neurologic complications. As might be expected, infants with delayed bone
age at diagnosis or a longer time to normalize thyroid hormone levels have poorer outcomes.

II. CAUSATIVE FACTORS

  A missing or abnormally developed thyroid gland
 Insufficient production of thyroid hormone
 Pituitary gland's failure to stimulate the thyroid
 Defective or abnormal formation of thyroid hormones
 Abnormal iodide uptake
 autoimmune thyroiditis of the mother
 Thyroidectomy of the mother
 Uses of radioactive iodine

III. SIGNS AND SYMPTOMS

 jaundice  short, thick neck

 pallor  dyspnea on exertion
 blotchy, cool, and dry skin  bradycardia
 dry, brittle and dull  protuberant abdomen
 dull facial expression  umbilical hernia (rare)
 large fontanels  hypotonic abdominal muscle
 widely separated skull bone  constipation
 puffy wide set eyes  sluggishness
(periorbital edema)  anasarca
 open-mouthed  weight gain
 thick protruding tongue  short extremities
 macroglossia  stunted growth
 poor feeding  decrease muscle tone
 choking episodes  sleepiness
 teeth erupt late and decay early  slow deep tendon reflex
 enlargement of the thyroid gland  mentally retarded

IV. POSSIBLE COMPLICATIONS

 Mental retardation
 Growth retardation
 Heart problems

If this condition is left untreated then the child may not be able to do simple
tasks as this condition can lead to retardation in the child. Growth will also not be at a
steady rate and other problems will appear and also they will become more severe as the
child ages.

V. LABORATORY AND DIAGNOSTICS PROCEDURE

1. Serum TSH
  Pituitary production of TSH is measured by a method referred to as IRMA
(immunoradiometric assay).

Expected result: TSH becomes elevated.

 This rise in TSH represents the pituitary gland's response to a drop in circulating thyroid
hormone; it is usually the first indication of thyroid gland failure.

2. Serum T3 and T4 by RIA

 The most used thyroid test of all. Thyroxine (T4) represents 80% of the thyroid hormone
produced by the normal gland and generally represents the overall function of the gland.
The other 20% is triiodothyronine measured as T3 by RIA.

Expected result: Low level of T3 & T4

 This means that the thyroid gland fails to produce enough thyroxine and T3 level for
blood circulation

3. Serum Thyroid Binding Globulin

 Most of the thyroid hormones in the blood are attached to a protein called thyroid
binding globulin (TBG).

Expected result: Increased TBG

 Increased in TBG level shows decrease level of the thyroid hormones in the blood

4. Thyroid scan and a radioactive iodine uptake test (RAIU)

 The thyroid scan is used to determine the size, shape and position of the thyroid gland.
 The thyroid uptake is performed to evaluate the function of the gland.

Expected result: Absence or small thyroid tissue and Decreased iodine uptake

Preparation prior to procedure:

 Verify if the client has history of allergic reaction to iodine. The radioactive tracer used
for these tests may contain iodine. However, even if the patient is allergic to iodine, he
will probably be able to have this test because the amount that may be used in the
radioactive tracer is so small that the risk of an allergic reaction is very low.
 Before a radioactive iodine uptake (RAIU) test, secure a consent form that says the
patient understands the risks of the test and agree to have it done.
 Before an RAIU test, blood tests may be done to measure the amount of thyroid
hormones (TSH, T3, and T4) in blood.
 Instruct the patient or care provider that he must not eat for up to 2 hours before the test
and not taking any anti-thyroid medication for 5 to 7 days before the test.
 Remove jewelry, dentures, or other metals, because they may interfere with the image.

5. ECG
 used to measure the rate and regularity of heartbeats as well as the size and position of
the chambers, the presence of any damage to the heart, and the effects of drugs or
devices used to regulate the heart (such as a pacemaker).
 Expected result: Sinus bradycardia and inverted T-wave

Preparation prior to procedure:

 Explain to the patient’s care provider that there are no restrictions for food or fluids.
However, ingestion of cold water immediately before an ECG may produce changes
in one of the waveforms recorded (the T wave). Exercise (such as climbing stairs)
immediately before an ECG may significantly increase heart rate.
 Instruct the patient to remove all jewelry and to wear a hospital gown.

6. Long Bone X-ray

 Used to look for injury, infection, arthritis, abnormal bone growths, and bony changes
seen in metabolic conditions.

 Most bone x-rays require no special preparation.

 The patient may be asked to remove some or all of his clothes and to wear a gown
during the exam.
Expected result: absence of femoral or tibial epiphysial line
7. CBC
 used to evaluate the composition and concentration of the cellular components of
blood

Expected result: Low level of hemoglobin

8. Test for Electrolytes

 used to determine if the client have electrolyte imbalances

Expected result: increased Ca and decrease sodium

9. Cholesterol
 Used to check the level of cholesterol-carrying proteins in the blood to determine
impending risk for heart disease

Expected result: increased level of LDL

VI. TREATMENT

Cretinism is treatable however it is vitally important that the condition is caught at the
very early stages of the child’s birth. If this condition is caught early then the effects that have
taken place can be reversed.
 Replacement therapy with thyroxine is usually the standard treatment given to a child
that has cretinism. Treatment with thyroid hormone promotes normal physical and mental
development. It is essential that treatment be started during the first six weeks of life or
irreversible changes may take place. Once medication starts, the blood levels of T3 and T4 are
monitored to keep the values within a normal range.

Endemic cretinism can be prevented by appropriate iodine supplementation. Iodization

of salt is the usual method, but cooking oil, flour, and drinking water have also been iodinated
for this purpose. Long-acting intramuscular injections of iodized oil (Lipiodol) have been used in
some areas.

VIII. PRIORITIZED LIST OF NURSING PROBLEMS

NURSING PROBLEMS CUES JUSTIFICATION

IDENTIFIED
Ineffective breathing pattern Subjective: According to Rule of ABC,
r/t weak diaphragm as “Nahihirapan syang huminga.” breathing is the second
evidenced by dyspnea on as verbalized by the patient’s priority. Ineffective breathing
exertion mother. pattern will interfere with the
respiration of the patient. This
Objective: must be the nurse’s primary
 bradypnea concern because it can be life
 dyspnea on exertion threatening if not address
 alteration in depth of immediately.
breathing
 nasal flaring

Hypothermia r/t decrease Subjective: “Madali syang Hypothermia can also be life
metabolic rate lamigin at lageng malamig ang threatening if left untreated.
kamay nya.” at as verbalized by This can affect blood flow and
the patient’s mother. reduced oxygenation of cells in
the body.
 Objective:
 cool skin
 pallor
 body temperature below
normal range
 slow capillary refill
Constipation r/t decrease Subjective: This problem is not currently
intestinal peristalsis as “Tatlong beses lang syang health threatening, but it could
evidenced by hypoactive tumae sa isang lingo at madalas be if it were to persist.
bowel sound
na nahihirapan syang ilabas.” as Feces prolonged in intestine
verbalized by the patient’s might produce toxin that could
mother. harm the body.

Objective:
 hard, dry stool
 hypoactive bowel sound
 distended abdomen
straining with defecation

IX. RECOMMENDATION

Prevention

Pregnant women with diagnosed iodine deficiency or problem with thyroid gland is
advised to comply with their medication. Iodine or thyroxine supplementation helps in giving
the fetus adequate hormones needed for growth and development during gestation.

Early Diagnosis

In pregnant women who take radioactive iodine for thyroid cancer, the thyroid gland
may be destroyed in the developing fetus. Infants whose mothers have taken such medicines
should be observed carefully after birth for signs of hypothyroidism. Also, mothers with a
newborn infant are advised to submit their babies for newborn screening test for early detection
of Cretinism.

Promoting Home-Based Care

Nurse should instruct the patient’s care provider about the medications that are
prescribed and their actions. It is also important to inform the family about symptoms that
should be reported to the physician. Also, make sure that they understand that the thyroid
hormone replacement therapy is life long and their compliance is very much needed.
Further Outpatient Care

Laboratory measurements of T4 (total or free T4) and TSH should be repeated 4-6 weeks
after initiation of therapy, then every 1-3 months during the first year of life and every 2-4
months during the second and third years. In children aged 3 years and older, the time interval
between measurements may be increased, depending on the reliability of the patient's caretakers.
As dosage changes are made, testing should be more frequent.

Formal developmental and psycho neurological evaluations should be considered in all

infants with congenital hypothyroidism. Such evaluations are especially important in children
whose treatment was delayed or inadequate. As with any child, school progression should be
monitored and parents is encourage to seek early evaluations and interventions as soon as
problems are recognized.