case study 2 neurofibromatosis type i in...

Neurofibromatosis Type I 1

Running head: NEUROFIBROMATOSIS TYPE I IN INFANCY

Neurofibromatosis Type I in Infancy

Kim Bookout

Texas Woman's University


Neurofibromatosis Type I in Infancy

Subjective Data

Patient Profile

Identifying Factors

The patient is a 9-month old Caucasian female who presents to the primary care clinic for

a well child exam. I chose this patient because of the subtle presentation of her condition that

could have easily been overlooked.

Background Information

Chief Complaint

The patient presents for her routine 9-month well child exam. Her mother reports some

concerns related to mobility. The child is not crawling effectively, an “uncoordinated effort,” per

the mother’s report.

HPI

The patient presents for routine well-examination in the primary care office. She has been

seen regularly in the office since her 6th day of life. She has had no previous concerns at well

child exams.

Past Medical History

Illnesses: 1. Diaper Rash, irritant dermatitis 2. Viral Upper Respiratory Infection 3. Cough 4. Roseola

Allergies: NKDA Surgeries: None Medications: Poly-Vi-Sol Multivitamins


Birth History

The infant was born via vaginal delivery at 38 6/7 weeks to a healthy 29 year old G1P0.

She weighed 8 lbs. 9 oz. and was 20 ½ inches long. Head circumference was 361/2 centimeters.

Following delivery she was congested and had difficulty latching on for breastfeeding. She was

supplemented with formula via nasogastric tube for the first two feedings. She was able to latch

on successfully prior to discharge. Hearing screen was passed and her first newborn screen was

drawn prior to leaving the hospital. Both parents were given Adacel (TdaP) immunization prior

while at the hospital.

Health Maintenance 1. Well exams at:

a. 6 days b. 2 weeks c. 1 month d. 2 months e. 4 months f. 6 months

2. Immunizations Up To Date

Social History

The infant lives in Flower Mound, Texas, in a single-family home with both parents. She

stays at home with her mother. Her mother will wait to return to work when she is one year old.

She will then begin daycare at an in-home setting. She is insured with private insurance through

her father’s policy who is a teacher/coach at a local high school.

Family History

The infant’s mother is 30 years old and has no chronic illnesses other than seasonal

allergies. Her father, age 31 years, is equally healthy. Neither reports a family history of diabetes,

asthma, heart disease, liver or kidney disorders, epilepsy, mental retardation, or immune

problems.


Review of Systems

General Health: Parents report no concerns other than her inability to crawl. Her efforts

appear uncoordinated according to parents.

Skin/Hair/Nails: No lesions. No dryness. No rashes. Mom reports a few new dark spots

on skin.

HEENT: No suspicion of visual loss, no excessive tearing or drainage. Appears to hear.

No nasal congestion. No difficulty swallowing. Eight teeth.

Neck/Lymph: No lumps or swelling.

Chest/Lungs: No coughing. No retractions. No increased work of breathing.

CV: No cyanosis.

GI: No reflux. No constipation or diarrhea. Appetite is hearty. Breastfeeds four times

daily with solid foods three times daily.

GU: Urinary output adequate. Wears diapers. No foul odor of urine. No perineal skin

irritation.

Endocrine: Adequate weight gain. No polydipsia.

M/S: Unable to crawl. Efforts are uncoordinated.

Extremities: No edema. No cyanosis. Symmetrical appearance of lower limbs.

Hematological: No excessive bleeding or bruising.

Neuro: No seizures. No weakness.

Sleep: 12 -13 hours at bedtime. Naps twice at about 1-2 hours per nap.

Development: Sits well. Pulls to feet with support but does not crawl. Rolls back to front

frequently. Feeds self. Uses pincer grasp. Bangs objects together. Responds to name.


Does not wave bye-bye. Imitates sounds. Plays peek-a-boo, patty cake. Has no stranger

anxiety.

Objective Data

Physical Exam

Vital Signs:

Height: 29 ½” (97th percentile); Weight: 21 lbs. 12 ½ oz. (90th percentile); Head Circumference: 47.2cm (97th percentile); Temp: 97.5; Pulse: 148 bpm; Resp: 28/min

General: 9 month old female in no distress. She appears well developed, well nourished. She is fair complexioned with red hair. She is well groomed and dressed appropriate to weather. Skin/Hair/Nails: Skin is warm pink and dry. No eczema or rashes. Turgor brisk. Twelve light brown macules with 6 macules > 1cm noted to multiple areas over body. No axillary freckling. Head: Atraumatic, normocephalic. Anterior fontanel small and flat. No overriding sutures. No dermatitis. EENT: Red reflex noted bilaterally. No strabismus. Appears to see. Appears to hear. TMs pearly pink. Good light reflex. Nares patent. Mucous membranes pink and moist. No oral lesions. Eight teeth. Gums with mild edema. Neck/Lymph: Supple. No nuchal rigidity. No lymphadenopathy. Chest/Lungs: Clear to auscultation. No increased work of breathing. CV: Heart rate rapid and regular. No murmur. S1S2 audible. Abdomen: Soft. Non-tender. Non distended. Normoactive bowel sounds. No hepatosplenomegaly. No masses. GU: No labial adhesions. No discharge. Normal genitalia. Musculoskeletal: No asymmetry or weakness. Muscle tone good. No head lag. No leg length discrepancy. No hip click. Neurological: Smiles spontaneously. No facial asymmetry. Moves all extremities equally. Normal tone. Rectal: Deferred


Previous Labs: Newborn Screen Normal (both tests) Pertussis (obtained with previous URI) Negative

Discussion of Findings

This healthy, nine month old female appears to be developing according to anticipated

developmental guidelines with exception to crawling. However, when administering the Denver

Developmental Screening Tool, one will note that crawling is not a listed developmental task.

Likely this is due to the vast variation among “ambulation” used by infants (e.g., all fours vs.

army crawl vs. rolling, etc.)

The pertinent finding of this well child exam is the newly noted light brown

macules about the torso. She had 12 areas with 6 of the areas at one centimeter or larger. The

areas were extremely subtle yet clearly present. These areas of hyperpigmentation are also

known as café-au-lait spots—a symptom of neurofibromatosis. Her mother confirms that all of

the areas are new.

Assessment/Impressions

1. Gross motor delay (suspected)—314.1

2. Neruofibromatosis-1 -- 237.71

Neurofibromatosis-1 (NF-1) is a disorder that affects multiple systems including skin and

nervous system. It is an autosomal dominant disorder characterized by variable expression. This

disease is typically recognized in early childhood once skin lesions are visible. Most children do

well, experiencing no adverse effects. In some infants, skin manifestations are present at birth. In

most, skin manifestations become evident later in infancy. Complications are typically age

specific. Thus, periodic monitoring is incorporated into well child exams with specialty referrals

as necessary. (See Appendix A for monitoring checklist).


Developmental delays are diagnosed through administration of the Denver II at the 9- and

18-month well child visits per policy at this primary care practice. Parents are questioned

regarding normal activity and behavior of the child in the home environment. The 9-month old

infant, according to the Denver II, should be able to sit without support, pull herself to stand, and

get to a sitting position without assistance. This infant failed each of the three tasks indicating a

mild delay in gross motor development. (See Appendix B for the Denver II Screening Tool).

Differential Diagnoses

1. McCune-Albright syndrome 2. Normal infant

Chronic Diagnoses

None.

Plan

Laboratory Tests

None.

Diagnostic Tests

1. Blood Pressure (to be completed at every visit).

Health Maintenance

Up to date.

Medications

None.

Education

This well child exam was attended by the infant’s mother only. On exam, it became

apparent to her that the child was being thoroughly evaluated for “something”. It became


necessary to discuss the concerning presentation of 12 café-au-lait spot and the long-term

implications of the findings. The infant’s mom was educated regarding neurofibromatosis and its

typical presentation. She was further instructed to avoid internet searches for more information

until a confirmatory diagnosis was made. Although this sounds trite, it is necessary to instruct

families regarding the vast amount of erroneous information found on the internet. The mom was

also instructed regarding upcoming referrals to be made for the child.

Referrals

1. Opthomalogy- assess for Lische nodules

2. Dermatology- baseline documentation (detailed) of café-au-lait spots

3. Genetics – confirmation of diagnosis along with genetic counseling for parents

4. Early Childhood Intervention (ECI)—correction of hypotonia and mild gross motor

delay

Follow-up and Continuity of Care

A telephone call was placed to a pediatric geneticist on the day of this well-child exam.

Findings were discussed with him along with brief family history which was negative for any

neurofibromatosis. The geneticist was very reassuring stating that NF-1 is the most frequently

cited spontaneously mutating genetic disease. In other words, it is quite likely that neither parent

carries the NF-1 trait therefore future pregnancies should not be affected. Although the geneticist

did not feel compelled to see this infant and her parents, it was recommended to the parents that

they visit him for direct reassurance regarding the diagnosis. The infant was seen by the

geneticist approximately one month after the well exam.

The infant was also referred to Opthomalogy. She was evaluated for Lisch nodules (iris

hamartomas), optic glioma, and visual disturbances. The eye exam was negative for any


ophthalmic involvement at baseline. She will continue to follow up with opthomalogy every one

to two years. (See Appendix C for photos of Lisch nodules and optic glioma). Dermatology was

also seen due to the need for establishing a baseline examination of the child’s skin. Although

her skin will be monitored at well-child exams during infancy, she will likely need follow up

with dermatology in between well-child exams as she ages. No other significant findings were

made by dermatology.

A referral was also made to Early Childhood Intervention (ECI) to assess for gross motor

delay and to correct hypotonia. She was evaluated for gross motor delay. Through ECI, a

therapist came to her home to work with her in her own environment. This is a free-service to

families. The child made excellent progress and required therapy for only three months. She is

now crawling, pulling to stand, getting to sitting position, and attempting steps without

assistance.

Discussion

Neurofibromatosis-1 (NF-1) is a multi-system disorder. It has a prevalence of

approximately 1: 3,000 to 4,000 with half of all new cases attributed to spontaneous mutations

(Hay, Levin, Sondheimer, & Deterding, 2009; Tonsgard, 2006). This disorder was described in

the literature first in 1849. It was later (1882) called “von Recklinghausen’s disease” for his

identification of neural elements found in neurofibromatosis (Wilson & Cooley, 2006). The gene

responsible for the development of neurofibromatosis is located on chromosome 17. However,

one can have several café-au-lait spots without having NF-1. In which case, a different gene is

responsible for the pigment changes. NF-1 accounts for approximately 90% of neurofibromatosis

cases while NF-2 is the other more common form of the disease (Wilson & Cooley).


A diagnosis of NF-1 is made based on a patient having six café-au-lait spots greater than

0.5 to 1.5 centimeters. However, according to guidelines from the National Institutes of Health

Consensus Development Conference, to confirm a diagnosis, two or more findings from the

following list should be present: a) six café-au-lait spots > 0.5cm; b)two neurofibroma or one

plexiform neuroma; c) axillary or inguinal freckling; d) optic glioma; e) two or more Lisch

nodules; f) a distinctive bony lesion like fusion of the radius and ulna or a false joint; and f) a

first-degree relative with neurofibromatosis (Wilson & Cooley, 2006). Skin manifestations are

present in at least 95% of patients but other features occur in less than 1% (Tonsgard, 2006). NF-

1 is considered a progressive disease with café-au-lait spots, plexiform neuromas, and

pseudoarthrosis present within the first year of life. Freckling, optic gliomas, and scoliosis are

typically seen by age seven. Lisch nodules may not appear until the child is in her teen years

along with cutaneous neurofibromas (Hersh, 2008; Tonsgard). Since this patient had café-au-lait

spots as her only finding, a confirmatory diagnosis of NF-1 cannot be made although it is highly

suspected. It is important to note that the size of the 6 café-au-lait spots that were originally <

0.5cm will increase as this infant ages thus increasing the probability of a confirmed NF-1

diagnosis.

Health supervision is paramount in progressive genetic diseases. Hersh and the

Committee on Genetics of the American Academy of Pediatrics (2008) developed a clinical

report outlining diagnostic criteria, complications, and clinical management of the child with

neurofibromatosis. It is recommended that this patient follow the periodicity examination

schedule throughout infancy and childhood. During these routine visits the clinician should

assess for growth and development using standardized growth charts. Children with NF-1 tend to

be shorter that average with often have heads that are larger than average. Skin should be


examined with each visit to assess for the presence of new café-au-lait spots as well as increases

in size of previously identified spots. They should be examined for proptosis and focal

neurologic signs as well as any skeletal anomalies with emphasis on the spine and legs. Infants

and toddlers with NF-1 are at high risk for fracture due to thinning of cortical bone in long bones

of the body. Ophthalmology referrals are warranted along with any other specialty referrals.

Additionally, blood pressure should be checked annually.

Most children with NF-1 are mildly affected. In fact, as many as 40-85% of patients

avoid complications beyond café-au-lait spots (Wilson & Cooley, 2006). This reassurance is

necessary for parents of children who are newly diagnosed with NF-1. Medical counseling

should focus on the positive aspects of the commonality between the majority of patients with

NF-1. In other words, most will never have complications. Thus, optimistic counseling is the

preferred methodology. Parents (unaffected) of children who are affected with NF-1 have a

minimal chance of recurrence with subsequent pregnancies. All patients affected by NF-1 have a

50% chance of transmitting the disease to their offspring. Their offspring can be affected more or

less severely due to the highly variable expression of the gene (Wilson & Cooley).

Gross motor delay, to an extent, is a normal variant within early childhood. In fact, in the

notable Denver II Screening tool, motor development is conspicuously missing “crawling” as a

developmental task. According to the Denver Developmental Test, infants who are 9 months old

should be able to get to a sitting position, pull themselves to stand, stand holding on and sit

without support. Never in the tool is a task related to crawling listed. There is some reported

controversy related to the reliability of using the Denver II as a screening tool in pediatric

primary care (Glascoe & Shapiro, 2004). Although much of the motor delay experience by the

infant in this case study was within the normal variation, her mother preferred a timely referral to


Early Childhood Intervention (ECI) for improved outcomes. Since as many as 85% of children

with NF-1 escape without complications, it is unlikely that this patient’s motor delay is related to

her new diagnosis of NF-1. Early intervention is, however, an indication for all of those with

delays (Hersh, 2008).

Long term follow up should include continued examination of the child for

neruofibromata and skin fold freckling. Typically this freckling can occur in any intertriginous

area. Vision and thorough ophthalmic exam are also recommended yearly. If visual changes,

headaches, seizures, proptosis, or plexiform neurfibroma are present, an MRI of the brain is

warranted (Wilson & Cooley, 2006; Hay et al., 2009; and Hersh, 2008). She should continue to

be monitored for speech and motor deficits. Should she develop pruritis secondary to

neurofibromata, antipruritic medications may be avoided due to their lack of efficacy (Hersh).


References

Glascoe, F. P., & Shapiro, H. (2004). Introduction to behavioral and develpomental screening.

Retrieved November 20, 2009, from http://dbpeds.org/articles/details.cfm?id=5

Hay, W. W., Levin, M. J., Sondheimer, J. M., & Deterding, R. R. (Eds.). (2009). Current

diagnosis & treatment: Pediatrics (19th ed.). New York: McGraw Hill.

Hersh, J. H. (2008). Health supervision for children with neurofibromatosis. Pediatrics, 121,

633-642.

Tonsgard, J. H. (2006). Clinical manifestations and management of neurofibromatosis type 1.

Seminars in Pediatric Neurology, 13, 2-7.

Wilson, G. N., & Cooley, W. C. (2006). Preventative health care for children with genetic

conditions (2nd ed.). New York: Cambridge University Press.


Appendix A

Screening Checklist for Neurofibromatosis-1


Appendix B

Denver Developmental Screening Tool


Appendix C

Photos Optic Glioma and Lisch Nodules

Fig. 1. Iris hamartomoa (Lisch Nodules)

Photo credit: emedicine.medscape.com

Fig. 2. Optic Glioma

Photo credit: http://commons.wikimedia.org/wiki/File:Optic_glioma.jpg

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