1.

Case Study 1
A 35-year-old carpenter with peripheral neuropathy and skin lesions
A 35-year-old, fair-skinned male is referred to your clinic for evaluation. His symptoms began
approximately 3 months ago, with the insidious onset of numbness and tingling in his toes and
fingertips, progressing slowly in the ensuing weeks to involve the feet and hands in a symmetric
“stocking-glove” fashion. In the past 2 to 3 weeks, the tingling has taken on a progressively
painful, burning quality and he has noted weakness in gripping tools. No ataxia, dysphagia,
visual symptoms, or bowel or bladder incontinence have been noted, and he has not complained
of headaches, back or neck pain, or confusion. Except as noted, the review of systems is
otherwise negative.
The patient’s medical history is remarkable for a flu-like illness approximately 4 months ago
characterized by 3 to 4 days of fever, cough, diarrhea, and myalgias, which resolved
spontaneously. Further questioning reveals the patient has been a carpenter since completing
high school 17 years ago. For the last 10 years, he has lived in a rural, wooded area in a home he
built. Approximately 10 months ago he was married and moved with his wife, an elementary
school teacher, into a newly built home on an adjacent parcel of land. The patient consumes one
to two alcoholic drinks a week, and quit smoking 2 years ago after a 15-pack-year history. He
takes one multivitamin a day but no prescription medications. Family history is unremarkable;
his wife, parents, and two younger brothers are in good health.
Neurologic examination reveals diminished proprioception in the hands and feet, with a
hyperesthetic response to pinprick sensation on the soles. Motor bulk and tone are normal, but
there is slight bilateral muscular weakness in dorsiflexors of the toes and ankles, wrist extensors,
and hand intrinsics. Reflexes are absent at the ankles and 1+ at the biceps and knees.
Coordination and cranial nerve function are within normal limits. Dermatologic examination
reveals brown patches of hyperpigmentation, with scattered overlying pale spots in and around
the axillae, groin, nipples, and neck. The palms and soles show multiple hyperkeratotic corn-like
elevations 4 to 10 mm in diameter. Three irregularly shaped, sharply demarcated, erythematous,
scaly plaques, measuring 2 to 3 cm, are noted on the patient’s torso. The remainder of the
physical examination is normal.
On initial laboratory evaluation, the CBC shows slight macrocytic anemia with hematocrit 35%
(normal range 40% to 52%), and MCV 111 fL (normal range 80 to 100 fL). White blood cell
count is 4.3×103/mm3 (normal range 3.9 to 11.7×103/mm3); the differential reveals moderate
elevation of eosinophils at 9% (normal range 0% to 4%). Occasional basophilic stippling is noted
on the peripheral smear. Liver transaminases are slightly elevated. BUN, creatinine, and
urinalysis are normal.

(a) What problem list is suggested for this patient?

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(b) What further investigations would you undertake at this time?
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(c) What treatment options would you consider?
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2. Case Study 2
Low back pain and waddling gait in a 60-year-old woman
A 60-year-old woman comes to your office with complaints of low back pain, which is causing
progressive difficulty in walking. The pain has gradually increased since the onset of menopause
5 years ago. This discomfort is especially noticeable after prolonged sitting.
Social history reveals that the patient has been a housewife since her marriage 38 years ago. Her
husband, who is in good health, owns and operates a small retail shop in their home. The patient
has been making jewelry for sale in her husband’s shop and as a hobby for about 35 years. They
have two adult sons who are in good health.
The patient denies a personal or family history of kidney disease, hypertension, diabetes mellitus,
or cardiovascular disease; she also denies history of back trauma or weight loss. She has smoked
one to two packs of cigarettes a day for the past 40 years. She does not take estrogens, calcium
supplements, vitamins, or other medications.
On examination you find a thin female with a slightly stooped posture and a waddling gait.
Blood pressure is 120/70. Her teeth have a yellow discoloration above the crown, and her
fingernails are stained with nicotine. She is anosmic on cranial nerve examination. Results of
cardiovascular and abdominal examination are normal. The lower lumbar spine is tender to
percussion, but the patient does not complain of pain on straight leg raising. Her deep tendon
reflexes are intact, and the remainder of the physical examination, including neurologic testing,
is normal. Sensation and strength are normal in legs and feet. Range of motion is normal in hips
and knees.
Initial laboratory data include a urinalysis showing 3+ proteinuria and glycosuria. BUN,
creatinine, and albumin levels are normal. Roentgenograms of the pelvis and lumbosacral spine
reveal pseudofractures and other evidence of severe osteomalacia and mild osteoporosis. There
are no osteolytic or osteoblastic lesions.

(a) What should be included on the patient’s problem list?

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(b) What additional information would be helpful in diagnosing this woman’s condition?
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(c) What further tests, if any, would you recommend?
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(d) What treatment would be appropriate for this patient?
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 3. Case Study 3

A hyperactive 5-year-old with disturbed hearing and hypochromic anemia

A 5-year-old boy is brought to your office by his mother, who is concerned that her child is
hyperactive. At a parent-teacher conference last week, the kindergarten teacher said that the boy
seems impulsive and has trouble concentrating, and recommended evaluation by a physician as
well as by the school psychologist. The mother states that he has always seemed restless and
easily distracted, but that these first 6 months in kindergarten have been especially trying.
Family history reveals that the boy lives with his sister, mother, and maternal grandparents in an
older suburb of your community. The child’s monthly weekend visits to his father’s house are
working out fine. However, he seems to be fighting more with his sister, who has an attention-
deficit disorder and is repeating first grade. Since the mother moved in with her parents after her
divorce 4 years ago, she has worked with the grandfather in an automobile radiator repair shop,
where her children often come to play after school. She was just laid off, however, and expressed
worry about increasing financial dependence on her parents. She also worries that the
grandfather, who has gout and complains increasingly of abdominal pain, may become even
more irritable when he learns that she is pregnant. Her third child is due in 4 months.
On chart review, you see that the boy was last seen in your clinic for his preschool physical 1
year ago, results of which were normal. A note describes a very active 4-year-old who could
dress himself without help but could not correctly name the primary colors. His vision was
normal, but hearing acuity was below normal, and speech and language were slightly delayed.
Immunizations are up to date.
Further history on that visit indicated adequate diet, with no previous pica. Spun hematocrit was
diminished at 30%. Peripheral blood smear showed hypochromia and microcytosis. There was
no evidence of blood loss, and stool examination was negative for occult blood. The diagnosis
was “mild iron deficiency anemia,” and iron therapy was prescribed. The family failed to keep
several follow-up appointments, but the child did apparently complete the prescribed 3-month
course of iron supplements. He receives no medications at this time and has no known allergies.
On physical examination today, you note that the boy is in the tenth percentile for height and
weight. His attention span is very short, making him appear restless, and he has difficulty
following simple instructions. Except for language and social skills, he has reached most
important developmental milestones.

(a) What should be included in this boy’s problem list?

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(b) List several possible causes for the anemia.
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(c) What tests would you order to confirm or rule out your diagnosis?
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 4. Case Study 4

A 3-year-old boy with irritability, digital erythema, and leg pain

A 3-year-old boy is brought to your office by his parents, who state that the child refuses to play
and prefers to lie on his bed. His parents note that about a month ago, he seemed to withdraw and
become cranky. Recently, he has experienced night sweats. On those nights the child has felt
warm, but his parents did not take his temperature. The child has had no other symptoms, such as
a runny nose or cough, and has not lost weight.

History reveals that the patient had recurring ear infections this past winter, which were treated
with oral antibiotics. His growth and development have been normal; he is in the 90th percentile
for weight and height. The child’s immunizations are up to date, and he is on no medications.

During physical examination, the boy is uncooperative and crying. He refuses to walk or stand
and says that his legs “hurt.” He is afebrile, has a heart rate of 130 per minute and respirations of
16 per minute. He is sweating, and his nose, fingers, and toes are erythematous; the skin on his
fingers and toes is peeling. The oral pharynx and abdomen appear normal upon examination; his
lungs are clear. He does not have point tenderness in his legs, and he has full range of motion in
knees and hips. His ankles are not edematous. Results of the neurologic examination are normal;
there is no muscular atrophy. Other findings are unremarkable.

Three months ago, the child, his parents, and his 6-year-old sister moved into a freshly painted
house. The parents report that their daughter appears healthy and is doing well in first grade.
Both parents are school teachers in good health. The family has no pets and has not traveled
within the past year. Until recently, the boy has enjoyed most social activities with his family.

(a) What should be included on the patient’s problem list?

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(b) What is the differential diagnosis for this patient?

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(c) What tests would you recommend to confirm or rule out a diagnosis?

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(d) What treatment and follow-up would you recommend?

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