Answer to Case File #4

The patient has Cystic Fibrosis.

Next Step in Evaluation: Obtain a chest radiograph and perform a sweat chloride test.

Definitions:

Clubbing: Increase in the angle between the nail and nail base of 180 degrees or greater, and softening of the nail base to palpation. Although the condition can be familial, clubbing is uncommon in children, usually indicating chronic pulmonary, hepatic, cardiac, or GI disease.

Cystic Fibrosis: The major cause of chronic debilitating pulmonary disease and pancreatic exocrine deficiency in the first three decades of life. It is characterized by the triad of chronic obstructive pulmonary disease, pancreatic exocrine deficiency, and abnormally high sweat electrolyte concentrations. Characteristics pancreatic changes give the disease its name.

Case File #4

A 5-year-old girl comes to your clinic for the first time with complaints of fever, malaise, and a cough for 2 days. She has a history of asthma for which she uses a steroid inhaler daily and an albuterol inhaler as needed. She has been tried on various over-the-counter cold and allergy remedies, but her respiratory symptoms have been worsening over the past several months. Her past medical history is notable for an episode of rectal prolapse and "sinusitis" during each of the past two winter seasons. Her mother also reports that her daughter has "always been small for her age." Your examination reveals a moderately ill-appearing child whose height and weight are at the fifth percentile for age. Her temperature is 101 degrees F and respiratory rate 32 breath/min. She has scant purulent rhinorrhea bilaterally, wheezy breath sounds in all lung fields, and diminished breath sounds on the right side. Heart sounds and capillary refill are normal, yet she has digital clubbing.

What is the most likely diagnosis?

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Answer to Case File #3

The patient has Klinefelter Syndrome, a trisomy syndrome often due to paternal rather than maternal nondisjunction, affecting 1 in 600 to 800 male infants.

Best Diagnostic test: Chromosomal analysis

Definitions:

Klinefelter Syndrome: A specific syndrome associated with behavioral problems(immaturity, insecurity), developmental delay (speech, language, lower IQ), and physical findings (gynecomastia, hypogonadism, long limbs) caused by an extra X chromosome in boys and men.

Mental Retardation (MR): A clinically and socially important impairment of measured intelligence and adaptive behavior that is diagnosed before 18 years of age.

Boys with Klinefelter syndrome often go unidentified until puberty because of the subtleness of the clinical findings. The diagnosis should be considered for all boys(regardless of age) who have been identified as having mental retardation, or psychosocial, school, or adjustment problems.

Case File #3

A somewhat tall-for-his-age 13-year-old adolescent male arrives for routine care. His mother reports that he seems to be much more immature and insecure than her older son was at the same age. His school performance is below average, and this year he has begun to receive special education for language-based classes. On physical examination you note that his extremities are longer than expected and that he is embarrassed by his gynecomastia. He is Tanner stage 1 with small gonads.

What is the most likely diagnosis?

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Answer to Case File #2

The patient has Failure to Thrive. Most likely of "nonorganic" in etiology.

Next Step: Gather more information, including birth, past medical, family, social, and developmental histories. A dietary history is especially important.

Definitions:

Failure to Thrive(FTT): A physical sign, not a final diagnosis. It is suspected when growth is below the third or fifth percentile or crosses more than two major growth percentiles in a short time frame. Usually seen in children younger than 5 years whose physical growth is significantly less than that of their peers.

Nonorganic FTT: Poor growth without a medical etiology. Nonorganic FTT often is related to poverty or poor caregiver-child interaction. It constitutes one-third to one-half of FTT cases identified in tertiary care settings and nearly all cases in primary care settings.

Organic FTT: Poor growth caused by an underlying medical condition, such as inflammatory bowel disease, renal disease, or congenital heart conditions.

A nonorganic FTT diagnosis is made after organic etiologies are excluded. After adequate nutrition and an adequate environment is assured, growth resumes normally after catch-up growth is demonstrated.

Patients with poor caloric intake usually fail to gain weight but maintain length and head circumference. As nutrition remains poor, length becomes affected next and then ultimately head circumference.

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Case File #2

A mother brings her 12-month-old child for a well-child visit. The infant appears to be small for her age. Her weight is below the 5th percentile on standardized growth curves (5oth percentile of an 8-month-old), her length is at the 25th percentile, and her head circumference is at the 50th percentile. Her vital signs and her examination are otherwise normal.

What is the most likely diagnosis?

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Answer to Case File #1

The infant presents with classic characteristics of Down Syndrome.

The next step in evaluation: Infant chromosomal evaluation to confirm diagnosis, evaluation for other features of the syndrome, counseling, and family support.

Definitions:

Advanced maternal age: The incidence of Down Syndrome increases each year beyond the age of 35. At 35 years, the incidence is 1 in 378 live born infants, increasing to 1 in 106 by age 40 and to 1 in 11 by age 49.

Brachydactyly: Excessive shortening of hand and foot tubular bones resulting in a boxlike appearance.

Clinodactyly: Incurving of one of the digits. In Down Syndrome the fifth digit curves toward the fourth digit due to midphalanx dysplasia

Triple screen: Measurements of alpha-fetaproten (AFP), hCG, and estriol levels, usually performed at 15 to 20 weeks' gestation. These tests screen for a variety of genetic problems. 60% of Down Syndrome babies and 80-90% of babies with neural tube defects will be identified by this testing.

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