Center for Teaching and Learning Genetics

Small Group Discussion- Review of Clinical Case Studies

Reference: Thompson and Thompson Genetics in Medicine. Nussbaum, McInnes and Williard, eds. 7th
edition, W.B. Saunders, Philadelphia, 2007.
Work in small groups to use the history and physical findings presented in the clinical cases in order to
reach a plausible diagnosis for the patient under study. For some scenarios, you may need to answer
additional questions about the probable disease.
C1: J.B., a 2-year-old boy, was referred to the pediatric clinic for evaluation of poor growth. During infancy,
J.B. had diarrhea and colic that resolved when an elemental formula was substituted for his standard
formula. As table foods were added to his diet, he developed malodorous stools containing undigested food
particles. During his second year, J.B. grew poorly, developed a chronic cough, and had frequent upper
respiratory infections. No one else in the family had poor growth, feeding disorders, or pulmonary illness.
On physical examination, J.B.s weight and height plotted less than the 3rd percentile and his head
circumference at the 10th percentile. He had a severe diaper rash, diffuse rhonchi, and mild clubbing of his
digits. The pediatrician requested several tests, including a test for sweat chloride concentration. The sweat
chloride level was 75 mmol/L (Normal < 40 mmol/L; indeterminate 40-60 mmol/L).
Diagnosis:________________________
Although this disease is observed in all races, it is predominantly a disease of __________________.
Describe the pathogenesis of this disorder.

Discuss an additional phenotypic feature of this genetic disease that was not mentioned in the case
study. Hint: J.B.s ability to produce offspring

C2: A.Y., a 6-year-old boy, was referred for mild developmental delay. He had difficulty climbing stairs,
running, and participating in vigorous activities; he had decreased strength and endurance. His parents, two
brothers, and one sister were all healthy; no other family members were similarly affected. On examination,
he had difficulty jumping onto the table, a Gowers sign (sequence of maneuvers for rising from the floor),
proximal weakness, a waddling gait, tight heel cords, and apparently enlarged calf muscles. His serum
creatine kinase level was 50-fold higher than normal. Results of his muscle biopsy showed marked
variation of muscle fiber size, fiber necrosis, fat and connective tissue proliferation, and no staining for
dystrophin.
Diagnosis:_________________________
What Mendelian Inheritance pattern is associated with this disease?

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C3: L.M. is a 2-year-old male referred because of five caf au lait spots, three of which measured larger
than 5 mm in diameter. He had no axillary or inguinal feckling, no osseous malformations, and no
neurofibromas. The consulting geneticist informed the parents and referring pediatrician that L.M. did not
meet the clinical criteria for this specific genetic disease at this time. At 5 years of age, L.M. returned to the
genetics clinic with Lisch nodules in both eyes and 12 caf au lait spots, 8 of which measured at least 5 mm
in diameter. He also had axillary freckling bilaterally.
Diagnosis:__________________________
What Mendelian principle is demonstrated in this clinical case study?
Would you recommend that L.M.s parents undergo prenatal testing during their next pregnancy
given the recurrence risk for this genetic disorder?

C4: L.W., a 14-year-old girl, was referred to the endocrinology clinic for evaluation of absent secondary
sexual characteristics (menses and breast development). Although born small for gestational age, she had
been in good health and normal intellect. No other family members had similar problems. Her examination
was normal except for short stature, Tanner stage 1 sexual development, and broad chest with widely
spaced nipples. After briefly discussing causes of short stature and delayed or absent sexual development,
her physician request follicle-stimulating hormone (FSH) level, growth hormone (GH) level, bone age study,
and chromosome analysis. These tests showed a normal GH level, an elevated FSH level, and an
abnormal karyotype (45, X).
Diagnosis:_________________________
As L.W.s physician, what treatment options would you offer your patient?

C5: A.M., a 49 y/o male presents to his primary care physician for a routine physical after his wife
convinced him to do so. A.M. reports that the last time he had been to a doctors office was when he was a
small child. He has been extremely fatigued and has had achy, painful joints for the past 4 months. He
knows there is a history of arthritis in his family but he feels that he is too young to begin experiencing these
symptoms. He has been attributing the pain to working long hours as an accountant. He has also noticed
that his libido ...just isnt what it used to be. A.M.s blood test results are shown in the tables below.

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Test description

Result

Reference range

WBC

5.23

3.40 -11.80 x10(3)

RBC

4.61

3.60 - 5.50 x10(6)

HGB

15.4

11.5 -15.6

gm/dl

HCT

44.6

34.5-46.5

POLYS

42

36-78

LYMPHS

35

12-48

EOS

0-8

BASOS

0-2

MONOS

0-13

Platelet Count

377

144-400

x10(3)

Total Protein

7.9

5.9-8.4 gm/dL

Albumin

3.4

3.2-5.2

gm/dl

Globulin

3.6

1.7-3.7

gm/dL

Glucose

75

70-99

mg/dL

Sodium

139

133-145

mmol/L

Potassium

4.7

3.3-5.3

mmol/L

Chloride

100

96-108

mmol/L

CO2

25

21-29

mmol/L

BUN

13

7-25

mg/dl

Creatinine

1.1

0.6-1.3

mg/dl

Serum Ferritin

575

<300

ng/mL

Serum Transferritin
Iron

68

20-50

AST (SGOT)

41

<37

u/l

ALT (SGPT)

50

<40

u/L

Diagnosis:__________________________
3

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Discuss the mechanism and potential treatment options for this disease.

Why do you think that women have a lower incidence of this disorder than men?