A mildly mentally retarded 9-year-old girl is brought to your office for acne. On examination, she does not actually have acne but has small flesh colored papules along her nasolabial fold. Her past history is significant for having had a first (afebrile) seizure last year. The mother reminds you that she has a faint birthmark on her hip that is pale and becomes more prominent in the summer, when the child's skin tans. Examination of this area reveals a 5-cm oval patch that is hypopigmented. Which condition would she most likely have?In evaluating her first seizure, a head CT was performed. Which finding would be most consistent with her diagnosis?
Answer(s): B
Children with tuberous sclerosis (tuberous sclerosis complex, TSC) can develop nasolabial fold angiofibromas (commonly referred to adenoma sebaceum). These can be mistaken for acne in an adolescent and is seen in over 80% of adolescents with TSC. Other cutaneous findings include peri- and subungual fibromas, ash leaf spots (hypomelanocytic macules), and shagreen patches. Skin findings are seen in 75% of cases of tuberous sclerosis. Tuberous sclerosis can also have CNS cortical defects and "tubers," which may be foci of seizure activity. The "tubers" have a classic periventricular distribution. Mental retardation is very common in varying degrees. Sturge-Weber syndrome (also known as leptomeningeal angiomatosis) is a port wine stain, typically with V1 or V2 distribution, with an underlying leptomeningeal blood vessel dysplasia. These dysplastic vessels will typically result in an underlying cortical atrophy. This cortical atrophy can be a nidus for seizures and can be seen on a CT scan of the head. Neurofibromatosis, type 1 is polymorphous neurocutaneous syndrome. The most common findings are café au lait spots, which may be present at birth and worsen during puberty. Beckwith-Wiedemann syndrome and CHARGE association are discussed further in explanations 44 and 45
Which of the following conditions usually causes hypoglycemia at birth?
Answer(s): E
Of the listed syndromes, only Beckwith Wiedemann syndrome has neonatal hypoglycemia as part of its clinical spectrum. The constellation of macroglossia, hypoglycemia, and visceral organomegaly (hepatosplenomegaly) is a common finding in children with Beckwith-Wiedemann syndrome. The presence of an omphalocele in a newborn would also be concerning for Beckwith- Wiedemann syndrome.
A 10-month-old infant has a dysplastic right external ear, some preauricular tags, and a small notch (coloboma) in the iris and lower lid. Which condition does he likely have?
Answer(s): D
The term CHARGE is a mnemonic standing for Coloboma, Heart malformations, Atresia choanae, Retarded (growth and mental),Genital anomalies, and Ear anomalies. The colobomas are usually seen in the iris, but can be seen in the eyelids and the nasolabial folds as well. The heart anomalies of CHARGE association are usually ventricular septal defects and tetralogy of Fallot.
While working in the emergency department in the winter, you examine a 3-week-old female infant. The baby is accompanied by her mother and father. They report that the baby has been congested for the past 24 hours. The parents have been taking the infant's temperature rectally and report that it has been normal. The infant was a born at 35 weeks' gestation and was delivered by caesarian due to preeclampsia. On examination, you see a well-appearing infant with a respiratory rate (RR) of 46 and a heart rate (HR) of 112. The TMs are normal and the lung fields are clear to auscultation. The mother relates that she has had a "cold" for the past few days. The father reports that he smokes, but only outside. As part of your evaluation you perform a nasopharyngeal swab for RSV antigen, which comes back positive. The best course of action for this infant is which of the following?
The majority of otherwise healthy infants who get RSV infections will tolerate the course without complications. Some rare complications can occur in infants with risk factors, which include prematurity; cardiac or pulmonary disease or immune system dysfunction. Premature infants are at particular risk for apnea. It is prudent to observe premature infants for apnea in the first few days of their RSV infection. Afull sepsis workup would not be warranted in an otherwise well-appearing, afebrile, infant. RSV-IVIG is not indicated for acute management of RSV infections. Likewise, it is unwarranted to begin antimicrobial therapy without a clear indication.
A term infant male is born after an uncomplicated vaginal delivery. The mother's prenatal labs were negative with the exception of being GBS positive at 36 weeks' gestation. The mother received two doses of ampicillin prior to delivery and did not have a fever. The infant had APGAR scores of 9 at 1 minute and 9 at 5 minutes. The infant was brought to the newborn nursery and appears well.The most appropriate management of the infant would be which of the following?
Answer(s): C
The most common bacterial infection in the newborn period is GBS. GBS is commonly cultured in the adult vaginal tract, and its vertical transmission can be interrupted with maternal antimicrobial treatment prior to delivery of the infant. Mothers are commonly treated in labor with penicillin, ampicillin, clindamycin, or azithromycin in an attempt to interrupt transmission to the infant while passing through the birth canal. If antimicrobial prophylaxis is initiated greater than 4 hours prior to delivery, the rate of early-onset GBS disease is dramatically decreased. The current recommendation for term infants of GBS-positive women who have received antibiotics in labor (at least two doses or =4 hours prior to delivery) is observation without testing or antibiotics. (American Academy of Pediatrics, 2003, pp. 584591) Classic hemophilia is an X-linked recessive bleeding diathesis. Hemophilia is inherited on the maternal lineage from carrier (or affected) mothers. This infant, being a male, would receive his X chromosome from his mother. He is, therefore, not at risk for having hemophilia. Further, being an X-linked trait, there cannot be a male "carrier" state.
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