Case Files Pediatrics, (LANGE Case Files) 4th Ed.

CASE 15

A 12-month-old boy whom you have followed since birth arrives for a well-child visit. The mother is concerned that the baby’s manner of crawling, where he drags his legs rather than using a four-limbed movement, is abnormal. She says that the child only recently began crawling and he does not pull to a stand. You noted at his 6-month visit that he was not yet rolling over or sitting; previous visits were unremarkable as was the mother’s pregnancy and vaginal delivery. On examination today, you note that he positions his legs in a “scissoring” posture (ie, legs extended and crossed) when held by the axillae.

Image What is the initial step in the evaluation of this child?

Image What is the most likely diagnosis?

Image What is the next step in the evaluation?

ANSWERS TO CASE 15: Cerebral Palsy

Summary: A 12-month-old boy crawls using primarily his upper extremities, and holds his legs in a “scissoring” posture when suspended.

• Initial step: Gather detailed history, focusing on the age at which developmental milestones were achieved; obtain thorough pregnancy, birth, social, and family histories; and perform a detailed neurologic examination.

• Most likely diagnosis: Cerebral palsy (CP).

• Next step: Vision and hearing testing, consider a brain magnetic resonance imaging (MRI) scan, and arrange for therapy with a developmental specialist.

ANALYSIS

Objectives

1. Know the definition of CP.

2. Recognize the classifications of CP.

3. Know the basic therapeutic approach to CP.

Considerations

The spasticity of the baby’s lower extremities described is abnormal and is suggestive of CP. He has gross motor delay. A complete developmental and neurologic assessment is crucial for initiating therapies that will help him achieve maximal functional outcome. Although often of low yield, an attempt should be made to identify the etiology of the child’s CP. Knowing the etiology can aid in developing a treatment plan, subsequent family planning (especially if the etiology is inherited), and assuaging parental guilt for this child’s condition.

APPROACH TO:

Cerebral Palsy

DEFINITIONS

CEREBRAL PALSY (CP): A disorder of nonprogressive movement and posture that results from an insult to or anomaly of the developing central nervous system (CNS). This definition recognizes the central origin of the dysfunction, thus distinguishing it from neuropathies and myopathies.

DEVELOPMENTAL DELAY: Failure of a child to reach developmental milestones of gross motor, fine motor, language, or social-adaptive skills at anticipated ages.

NEUROLOGIC DEFICIT: Abnormal functioning or lack of function of a part of the nervous system.

CLINICAL APPROACH

With a prevalence of 3 to 4 cases per 1000 live births, CP is the most common childhood movement disorder. Approximately one-third of CP patients also have seizures, and approximately 60% are mentally retarded.Deafness, visual impairments, swallowing difficulty with concomitant aspiration, limb and sensory impairments, and behavioral disturbances are common comorbidities.

Most children with CP have no identifiable risk factors. Current research indicates that CP most likely is the result of antenatal insults. Subsequent difficulties during the pregnancy, delivery, and perinatal period are thought to reflect these insults and are probably not the primary cause of CP.

Cerebral palsy, or “static” encephalopathy, is the result of a one-time CNS insult. In contrast, progressive encephalopathies destroy brain function with time. The term static is misleading, however, because the manifestations of CP may change with age. Contractures and postural deformities may become more severe with time or may improve with therapy. Also, a child’s changing developmental stages early in life can alter the expression of his or her neurologic deficits.

Immaturity of the CNS at birth makes diagnosis of CP nearly impossible in a neonate. If a CNS insult is suspected, head imaging (by ultrasound or MRI) can be helpful in recognizing CP early. Possible imaging findings include periventricular leukomalacia, atrophy, or focal infarctions. Beyond infancy, CP is suspected when a child fails to meet anticipated developmental milestones.

Examples of concerning findings are:

• A stepping response after the age of 3 months

• A Moro reflex beyond 6 months

• An asymmetrical tonic neck reflex beyond 6 months

Cerebral palsy can be classified in terms of physiologic, topographic, or functional categories. Physiologic descriptors identify the major motor abnormality and are divided into pyramidal (spastic) and extrapyramidal (nonspastic) categories. Extrapyramidal types can be subdivided further into choreoathetoid, ataxic, dys-tonic, or rigid types.

The topographic classification categorizes CP types according to limb involvement. Hemiplegia refers to involvement of a single lateral side of the body, with greater impairment of the upper extremities than the lower extremities. Diplegia describes four-limb involvement, with greater impairment of the lower extremities. Spastic quadriplegia is four-limb involvement with significant impairment of all extremities, although the upper limbs may be less impaired than lower limbs. (The term paraplegia is reserved for spinal and lower motor neuron disorders.)

The functional classification of CP relies on the “motor quotient” to place patients into minimal, mild, moderate, and severe (profound) categories. The motor quotient is derived by dividing the child’s “motor age” (ie, motor skills developmental age) with the chronologic age. A motor quotient of 75 to 100 represents minimal impairment, 55 to 70 mild impairment, 40 to 55 moderate impairment, and lesser quotients severe impairment. These categories help clinicians identify children with less obvious impairments so that early treatment can be provided.

The evaluation of CP is based on the history and physical examination. The yield of diagnostic findings with brain imaging and metabolic or genetic testing is low but can be helpful in managing the patient, in future family planning, and in reassuring the parents. Identification of comorbid conditions includes cognitive testing for mental retardation and electroencephalography (EEG) for seizures.

Treatment goals include maximizing motor function and preventing secondary handicaps. During the preschool years, the child’s communication ability is important. School performance and peer acceptance become important issues for older children. Physical therapy for motor deficits may be supplemented with pharmacologic and surgical interventions. Occupational therapy improves positioning and allows for better interaction with the environment and eases care as the child grows. The family’s psychological and social needs should not be overlooked; children may require extensive physical and emotional support.

COMPREHENSION QUESTIONS

15.1 A term infant requires resuscitation after a spontaneous vaginal delivery. The Apgar scores at 1, 5, and 10 minutes were 2, 7, and 9, respectively. The mother’s medical records show that she received routine prenatal care with normal prenatal ultrasonogram, triple screen, and glucose tolerance tests. The nurse tells you that the father seemed very agitated and mentioned “suing the obstetrician if the baby does not turn out normal.” Your examination of the baby reveals no abnormalities. In counseling the family, which of the following is most appropriate?

A. Inform them that your examination findings indicate that everything is fine.

B. Tell them that the low Apgar scores at 1 and 5 minutes indicate that the baby suffered perinatal asphyxia.

C. Inform them that because the pregnancy was uncomplicated, any neurologic deficit that the baby may develop likely can be attributed to events occurring at delivery.

D. Tell them that your examination findings are reassuring, and that you will perform a careful developmental assessment at every well-child visit.

E. Avoid speaking to the parents until you have had a chance to speak with the obstetrician and to see the cord blood gas results.

15.2 A 4-year-old child with CP comes to your clinic for the first time for a routine visit. He walks with the help of leg braces and a walker, and his speech is slurred and limited to short phrases. He has never been hospitalized, and he does not have swallowing problems. He began walking at the age of 2.5 years, and he is unable to take off his clothes and use the toilet without help. On examination you find that the boy has only minimally increased tone in the upper extremities but good fine motor coordination; he has significantly increased tone and deep tendon reflexes in the lower extremities. How would you categorize this child’s CP?

A. Mild, diplegic

B. Mild, hemiplegic

C. Moderate, diplegic

D. Moderate, quadriplegic

E. Severe, diplegic

15.3 A female is born through spontaneous vaginal delivery at 28-week gestation because of an incompetent cervix. Which of the following features of her clinical course in the neonatal intensive care unit (ICU) is most likely to correlate with her clinical outcome 5 years from now?

A. Administration of surfactant

B. Apnea of prematurity

C. Grade IV intraventricular hemorrhage

D. Retinopathy of prematurity stage 1 on initial ophthalmologic examination

E. Umbilical artery catheterization

15.4 The parents of a 2-year-old girl, recent immigrants from Guatemala, bring their child to you for the first time. The child was born at term after an uncomplicated pregnancy and delivery, and her neonatal course was uneventful. She sat without support at 6 months of age, pulled to a stand at 10 months, and walked at 14 months. She has a 10-word vocabulary, is able to drink from a cup, and feeds herself with a spoon. A previous child in the family died at the age of 5 years from “heart trouble.” On physical examination, you note lower extremity contractures, hand stiffness, somewhat coarse facial features, and hepatosplenomegaly. The child’s growth is within normal limits, and her examination is otherwise normal. Which of the following is the most appropriate next step to diagnose this child’s condition?

A. Abdominal computerized tomography (CT)

B. Brain magnetic resonance imaging (MRI)

C. Chromosomal analysis

D. Tests for a storage disorder

E. Thyroid function studies

ANSWERS

15.1 D. The Apgar score at 1 minute reflects the neonatal environment immediately prior to birth; the 5-minute score correlates the infant’s response to resuscitation. The Apgar scores are not an accurate reflection of morbidity. An examination is a better indicator of the child’s outcome, but CP cannot be ruled out on the basis of a normal neonatal physical examination. A discussion of the events of delivery is best left to the obstetrician; the majority of difficult deliveries are the result of a previously unidentified antenatal insult. However, avoidance of the parents will likely only further their anxiety and may impede your efforts to provide care for the child.

15.2 C. In diplegia all four extremities are affected, with greater impairment of the lower extremities. As most children walk by the age of 14 months, this child’s motor quotient is 14 months/30 months = 0.47, which classifies him as moderately impaired.

15.3 C. Intraventricular hemorrhage is a complication in preterm infants. It is associated with seizures, hydrocephalus, and periventricular leukomalacia. A grade IV bleed involves the brain parenchyma, putting this child at higher risk for neurodevelopmental handicap.

15.4 D. The enlarged liver and spleen, the coarse facies, and the history of a previous child’s death from “heart trouble” point to a storage disorder. Her joint contractures and hand stiffness may be explained by an abnormal metabolism rather than a CNS deficit as in CP.


CLINICAL PEARLS

Image Cerebral palsy is a disorder of movement or posture resulting from an insult to, or an anomaly of, the central nervous system.

Image Most children with cerebral palsy have no identifiable risk factors for the disorder.

Image Optimal treatment plans for cerebral palsy use a multidisciplinary approach.


REFERENCES

American Academy of Pediatrics. Use and abuse of the Apgar score. Available at: http://www.aap.org. Accessed April 23, 2012.

Cooley WC and Committee on Children with Disabilities. Providing a primary care medical home for children and youth with cerebral palsy. Pediatrics. 2004; 114:1106-1113.

Johnston MV. Cerebral palsy. In: Kliegman RM, Stanton BF, St. Geme III JW, Schor NF, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Elsevier WB Saunders; 2011:2061-2065.

Rust RS, Urion DK. Cerebral palsy and static encephalopathies. In: Rudolph CD, Rudolph AM, Lister GE, First LR, Gershon AA, eds. Rudolph’s Pediatrics. 22nd ed. New York, NY: McGraw-Hill; 2011:2178- 2181.

Shapiro BK, Capute AJ. Cerebral palsy. In: McMillan JA, Feigin RD, DeAngelis CD, Jones MD, eds. Oski’s Pediatrics: Principles and Practice. 4th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2006:2251-2258.