Pediatric Examination and Board Review (41 page)

10.
(E)
All of the listed findings increase in frequency with the age of the patient. Occasionally the lesions may be present in infancy, but more frequently they are noted later in childhood or even adolescence. Angiofibromas are pink to red nodules with a smooth shiny surface most commonly distributed over the central face, especially around the nose in the malar region. Periungual fibromas have a similar histopathology to angiofibromas but are located around the nail unit. The shagreen patch is a yellowish brown or pink plaque most commonly found in the lumbosacral area of the back and having a pebbly surface. Confetti macules are hypopigmented small 1- to 3-mm patches usually distributed in large numbers over the forearms and lower legs.

11.
(A)
Periungual fibromas typically appear around puberty and therefore are less useful in the diagnosis of tuberous sclerosus in young children. Histologically, these lesions are regarded as angiofibromas, the same as the facial lesions. Clinically, they are located around or under the finger or toenails and appear as firm papules, often with a pointed keratotic surface. Some authors do report periungual fibromas in otherwise healthy adults. The forehead fibrous plaque is also histologically an angiofibroma. Molluscum fibrosum pendulum is diagnosed in the presence of solitary or multiple soft pedunculated growths, particularly in skin folds such as the neck or axilla. Confetti macules were described earlier (see answer 10).

12.
(B)
Infantile spasms are characterized by a brief contraction of the neck, trunk, and arm muscles, followed by a phase of sustained muscle contraction lasting 2 to 10 seconds. The initial phase of contraction may consist of flexion or extension in various combinations. The seizures appear in clusters of unpredictable and variable duration. Hundreds of these seizures may occur daily. The peak age of onset of these seizures is 3-8 months of age, with most having onset before 1 year of age. Tuberous sclerosis is only one of several entities associated with this seizure type. There is a high incidence of mental retardation in patients with infantile spasms.

13.
(A)
As mentioned, hamartin and tuberin are gene products that have been implicated in the development of tuberous sclerosis, and the genes encoding them function as tumor suppressor genes.

14.
(C)
Cardiac rhabdomyomas have been detected by fetal ultrasound in the setting of tuberous sclerosis. These are hamartomas that can occur anywhere in the heart and may lead to conduction defects or outflow obstruction. It is estimated that up to 90% of infants with cardiac rhabdomyomas have tuberous sclerosis. They are found in 30-40% of infants with tuberous sclerosis. The lesions can regress spontaneously and may be asymptomatic.

15.
(D)
Renal cysts are very common in tuberous sclerosis, with up to a quarter of children with tuberous sclerosis younger than 5 years noted to have them. Additionally, renal angiomyolipomas are detected in up to 8% of cases.

16.
(E)
Cortical tubers are areas of increased firmness on the cortical surface of the brain where there is loss of the gray-white matter junction. There is loss of normal cellular architecture in these areas. The number and size of these lesions correlate with the occurrence of seizures and mental retardation.
Giant cell astrocytoma
is a term used to describe large subependymal nodules that are other characteristic intracranial lesions associated with tuberous sclerosis. Some subependymal nodules may enlarge and obstruct flow of CSF, resulting in hydrocephalus. These astrocytomas are distinctly different than typical astrocytomas with rare malignant transformation.

17.
(B)
A red purple patch on the forehead in what is described as a V1 distribution of the trigeminal nerve is most likely a port wine stain. Hemangiomas may appear flat initially but more often have a pebbly texture and may not be very noticeable until 2-3 weeks of life. Salmon patches are typically midline over the glabella and occiput and likely represent a remnant of fetal circulation. Café-au-lait macules and congenital nevi are brown and pigmented lesions and should be distinguishable from a vascular lesion at this age.

18.
(A)
A port wine stain in the V1 distribution of the trigeminal nerve is associated with Sturge-Weber syndrome in up to 10% of patients. The classic triad of Sturge-Weber syndrome is an ipsilateral facial port wine stain that typically involves at least the V1 distribution, eye abnormalities, and brain abnormalities. The brain abnormalities may include leptomeningeal vascular malformations, calcifications, cerebral atrophy, enlarged choroid plexus, and developmental venous anomalies. There is a risk for seizures, brain hypoxia, neuronal loss, and hemiplegia. The results of early neuroimaging may not demonstrate the most typical findings but show only subtle changes such as an enlarged choroid plexus or local accelerated myelination.

19.
(C)
Sturge-Weber syndrome is associated with ocular abnormalities in up to a third of patients. The abnormalities include choroidal vascular anomalies, increased ocular pressure, buphthalmos, and glaucoma. Any facial port wine stain involving an eyelid should elicit prompt referral to an ophthalmologist for careful evaluation because there is an increased incidence of ocular anomalies in this setting.

S
UGGESTED
R
EADING

Fitzpatrick T, Freedberg I, Eisen A, et al.
Fitzpatrick’s Dermatology in General Medicine.
5th ed. New York, NY: McGraw-Hill; 1999:2150.

Jozwiak S, Schwartz RA, Janniger CK, et al. Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic significance.
Int J Dermatol.
1998;37:911-917.Korf B. Tuberous sclerosis and neurofibromatosis. In: Schachner LA, Hansen RC, eds.
Pediatric Dermatology,
3rd ed. Edinburgh, United Kingdom: Mosby; 2003:273-280.

Sybert VP. Selected hereditary diseases. In: Eichenfield LF, Frieden IJ, Esterly NB, eds.
Textbook of Neonatal Dermatology
. Philadelphia, PA: WB Saunders; 2001:451-457.

Vanderhooft SL, Francis JS, Pagon RA, et al. Prevalence of hypopigmented macules in a health population.
J Pediatr.
1996;129(3):355-361.

Chapter 4

DEVELOPMENT

CASE 22: A 2-MONTH-OLD WITH COLIC AND SUBSEQUENT DEVELOPMENT DELAY

A 2-month-old girl named Sarah presents for a well-child check-up. Her parents report that she is having very difficult evenings. She has periods of crying that last for more than 3 hours. They have occurred in 5 of the last 6 days. Her mother is exhausted and wonders if there is something wrong with the infant formula you recommended.

Sarah was adopted from an international orphanage in early childhood. She weighed 2.14 kg and her gestational age was 34 weeks. It is unknown if she had any complications in utero or at delivery. The mother was cautioned that Sarah might have “development problems.”

The physical examination is normal.

SELECT THE ONE BEST ANSWER

1.
All of the following statements about colic are true except

(A) it often begins at 41-42 weeks gestational age

(B) fussiness occurs between 5 and 8 pm

(C) if it occurs only in the evening, it is probably related to food intolerance

(D) colic stops in 90% of children by 4 months

(E) some infants may be hyperirritable and have signs of hyperarousal

2.
Which of the following is not helpful and possibly harmful in the management of colic?

(A) a thorough physical examination to rule out a cause for pain or discomfort

(B) extensive laboratory testing

(C) feeding in an upright position with more frequent burping

(D) swaddling

(E) use of a pacifier

3.
Which strategy is not useful in managing colic?

(A) provision of close and consistent follow-up

(B) education of the family about crying and discussion of how stressful it is

(C) careful history and physical examinations

(D) social services involvement to evaluate for evidence of neglect or abuse

(E) reassuring parents that there is nothing physically wrong with their child

4.
Among the following factors, which is a major risk factor for cerebral palsy (CP)?

(A) cleft palate

(B) breech presentation

(C) small for gestational age (SGA)

(D) emergency cesarean delivery for fetal distress

(E) Apgar of 5 at 1 minute and 6 at 5 minutes

5.
Which of the following cranial sonographic abnormalities does not increase the risk for CP in preterm infants?

(A) intraventricular hemorrhage (IVH) grade 3

(B) IVH grade 4

(C) periventricular leukomalacia

(D) IVH grade 1 or grade 2

(E) none of the above

6.
At 9 months of age, Sarah has difficulty with rolling. During the pull-to-sit maneuver she comes to a stand. She tries to bat at rings. There are no obvious posture or tone changes when the Moro reflex and the asymmetric tonic neck reflex (fencer’s response) are elicited. Her head circumference is at the 25th percentile. All of the following would likely be found on Sarah’s examination except

(A) brisk lower extremity reflexes

(B) clonus at ankles

(C) ease of moving her foot toward her ear

(D) decreased range of motion at hips