Pediatric Examination and Board Review (227 page)

FIGURE 132-2
.
Ataxia-telangiectasia. Telangiectases inside and on the helix. (Reproduced, with permission, from Wolff K, Goldsmith LA, Katz SI, et al. Fitzpatrick’s Dermatology in General Medicine, 7th ed. New York: McGraw-Hill; 2008: Fig. 144-10.)

11.
(C)
Approximately 50% of children with optic nerve gliomas have NF 1. Most of the children present with optic pallor and atrophy, as well as decreased visual acuity. Depending on the location of the tumor, the child can present with visual field defects.

12.
(B)
To make a diagnosis of NF1, 2 or more of the following criteria are required:

• Two or more neurofibromas of any type or one or more plexiform neurofibromas

• Optic nerve glioma

• Six or more café au lait spots 1.5 cm or larger in postpubertal individuals and 0.5 cm or larger in prepubertal children

• A first-degree relative with NF1

• Two or more Lisch nodules

• Axillary or inguinal freckling

• A distinctive osseous lesion (dysplasia of the sphenoid bone or thinning of long bone cortex)

13.
(A)
The most common CNS tumors in NF1 are lowgrade astrocytomas, mostly occurring in the optic pathway. Meningiomas, medulloblastomas, ependymomas, and primitive neuroectodermal tumors also occur but are much less common.

14.
(C)
Six or more café au lait spots are required to make the diagnosis. See diagnostic criteria listed for answer 12.

15.
(C)
To make a diagnosis of NF2, bilateral eighth nerve masses must be seen upon neuroimaging. Alternatively, the patient must have a first-degree relative with NF2 and either a unilateral eighth nerve mass or 2 of the following: meningioma, glioma, neurofibroma, schwannoma, and juvenile posterior subcapsular lenticular opacity.

16.
(E)
Periungual fibromas are seen in TSC. Ungual fibromas are pathologically similar to the facial angiofibromas.

17.
(B)
A rare disorder, transmitted as an autosomal dominant trait, Von Hippel-Lindau disease is characterized by retinal and cerebellar hemangioblastomas. Spinal cord angiomas and cystic tumors of the pancreas, epididymis, and kidney are also observed.

18.
(D)
See explanation for question 10.

19.
(A)
See diagnostic criteria for NF1 listed in answer 12.

S
UGGESTED
R
EADING

Kandt RS. Tuberous sclerosis complex and neurofibromatosis type 1: the two most common neurocutaneous diseases.
Neurol Clin North Am.
2002;20:941-964.

Mackay MT, Weiss SK, Adams-Webber T, et al. Practice parameter: medical treatment of infantile spasms.
Neurology.
2004;62:1668-1681.

Thiele EA, Korf BR. Phakomatoses and allied conditions. In: Swaiman KF, Ashwal S, Ferriero DM, eds.
Pediatric Neurology: Principles & Practice.
4th ed. Philadelphia, PA: Mosby; 2006:771.

CASE 133: A 2-YEAR-OLD GIRL WITH HEADACHE AND FEVER

You are called to the emergency department (ED) to evaluate a 2-year-old girl who presents with headache and confusion. In the ED her temperature is 102°F. The patient was in good health until 6 days before presentation when she developed malaise and low-grade fevers. Shortly after, her mother states she complained of headaches, which have increased in severity. She states her daughter is usually very pleasant but recently has become agitated and increasingly irritable. In the last few days, she has become more somnolent. Immunizations are up to date. The ED staff has ordered a head CT, which is reportedly within normal limits. A lumbar puncture, performed by the ED physician, revealed 340 white blood cells/mm
³
with a predominance of polymorphonuclear cells, a glucose of 35 mg/dL, and a protein of 55 mg/dL. Although the patient knew her name on arousal, she has become stuporous and cannot abduct her left eye.

On your physical examination, the girl is obtunded but withdraws appropriately to pain. She is unable to abduct her left eye and her pupils are sluggish. The remainder of her cranial nerve examination is normal including a funduscopic examination. The deep tendon reflexes are mildly hyperactive and she has bilateral upgoing toes. Her skin examination is unremarkable.

SELECT THE ONE BEST ANSWER

1.
A Gram stain of the patient’s cerebrospinal fluid (CSF) would most likely reveal which of the following?

(A) gram-positive or gram-negative diplococci

(B) gram-negative rods

(C) mixed bacterial morphology

(D) gram-variable cocci in tetrads

(E) gram-positive bacillus

2.
Which of the following antibiotics is the treatment of choice for meningitis of unknown etiology in a patient without known drug allergies?

(A) penicillin

(B) ceftriaxone

(C) vancomycin

(D) rifampin

(E) B and C

3.
Important causes of bacterial meningitis in this age group include

(A)
Streptococcus pneumoniae

(B)
Haemophilus influenzae
, type b

(C)
Listeria monocytogenes

(D)
Neisseria meningitidis

(E) A and D

4.
The differential diagnosis of bacterial meningitis includes which of the following diseases?

(A) head trauma

(B) brain abscess

(C) intracranial hemorrhage

(D) neoplastic meningitis

(E) all of the above

5.
Which of the following are complications of bacterial meningitis?

(A) sensorineural deafness

(B) hydrocephalus

(C) syndrome of inappropriate secretion of antidiuretic hormone (SIADH)

(D) extra-axial fluid collections

(E) all of the above

6.
Before discharge, children treated for pneumococcal meningitis routinely require which of the following tests?

(A) neuropsychological evaluations

(B) repeat lumbar puncture

(C) MRI of the brain

(D) hearing evaluation

(E) EEG

7.
Which of the following organisms is the most common cause of acute bacterial meningitis in the neonatal period?

(A) group B streptococcus

(B)
Streptococcus pneumoniae

(C)
H influenzae
, type b

(D)
L monocytogenes

(E) coagulase-negative staphylococci

8.
L monocytogenes
is treated with which of the following antibiotics?

(A) gentamicin

(B) ampicillin

(C) vancomycin

(D) cefotaxime

(E) A and B

9.
You are called to the ED to evaluate a 2
¹
/2-week-old full-term infant who experienced a focal tonic seizure witnessed by the nurse. The infant was initially described as irritable but now appears lethargic. The child has a slight fever. On careful history taking, you learn that the infant’s mother has a history of sexual transmitted diseases (STDs). She denies any history of vaginal vesicular lesions before delivery. Laboratory evaluation reveals a lymphocytic pleocytosis and elevated protein in the CSF. The Gram stain is negative. A head CT was normal. An EEG performed earlier revealed left temporal sharp waves. The most likely cause of this child’s symptoms is which of the following?

(A) herpes simplex virus (HSV)1

(B) HSV2

(C) cytomegalovirus (CMV)

(D) human immunodeficiency virus (HIV)

(E) human herpes virus type 6

10.
The action most likely to support your diagnosis for the case presented in question 9 is which of the following?

(A) assay for HSV DNA by polymerase chain reaction (PCR)

(B) viral culture

(C) MRI of the brain with and without contrast

(D) urine for CMV culture

(E) noninfused head CT

11.
The most appropriate antimicrobial therapy for this infant is which of the following drugs?

(A) ganciclovir

(B) methylprednisolone

(C) acyclovir