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Case2

A 58 year old female complains of weakness, dizziness, anorexia, nausea, and


occasional
vomiting over the past three months. She has also experienced shortness of breath,
as well as
numbness and tingling in the extremities. She has slightly icteric eyes,
hepatosplenomegaly, and a smooth beefy-red tongue. She also has loss of balance,
vibratory, and position sense in both lower extremities. CBC reveals a macrocytic,
hypochromic anemia, leukopenia with hypersegmented neutrophils, and
thrombocytopenia. There is hyperbilirubinemia, achlorhydia, a positive Schilling
test, low blood vitamin B12 levels and a normal RBC folate level.
Patient symptoms
Classic symptoms of cobalamin
deficiency
(+)schillings test
(+)schillings test
Macrocytic, hypochromic RBC
Macrocytic, hypochromic RBC
Hypersegmented neutrophils, leukopenia Hypersegmented neutrophils, leukopenia
thrombocytopenia
thrombocytopenia
Low vitamin B12, normal RBC folate
Low vitamin B12, normal RBC folate
Chief complaint:
fatigue, weakness, dizziness, shortness
of breath
Numbness, tingling in extremities
Physical examination
vibratory and position sense loss
loss of balance
beefy red tongue
achlorydia
anorexia
Vomiting over last 3months
Hepatomegaly
Jaundice and Slightly icteric eyes

Anemic signs and symptoms:


fatigue, weakness, dizziness, shortness
of breath
Neurologic s/s: numbness, paresthesia
Diminished vibratory, position sense
concomitant loss of balance
Beefy red tongue
Low intrinsic factor
Weight loss
vomiting
Hepatomegaly
jaundice

questions:
1. What is the most likely diagnosis? Justify.
58 years old female
chief complaint: weakness, dizziness, anorexia, nausea and occasional vomiting for
3 months
shortness of breath, numbness and tingling in extremities
Most likely diagnosis: Cobalamin deficiency

Case3
A 9 month old female is brought to the pediatric clinic because of listlessness and
anorexia. She
is the daughter of an unemployed poor urban couple and has never before seen a
pediatrician or
taken any medication. Her parents report a diet of unsupplemented cows milk.
Physical examination reveals weakness, pallor, hyperkeratosis and hemorrhagic
perifolliculitis of
the skin of the lower extremities, forearms, and abdomen. There are purpuric skin
rashes,
splinter hemorrhages in the nail beds of the hands, tenderness and swelling of the
distal femur
and costochondral junctions. There are bleeding gums, and petechiae are seen over
the nasal and
oral mucosa.
The CBC reveals microcytic, hypochromic anemia, and leukopenia. Plasma and
platelet levels
of ascorbic acid are low. The bleeding time is prolonged.
X-rays show subperiosteal hemorrhages, both legs and knees show ground glass
appearance of
bones and epiphyses.
QUESTIONS
1. What is the most likely diagnosis? Justify your answer
9 month old female
Chief complaint: listlessnessa, anorexia
Likely diagnosis: Scurvy
Patient symptoms
Physical Examination:
Bleeding gums

Classic symptoms of scurvy


sore, spongy, and
bleeding gums with loose teeth

Purpura, petechial over nasal and oral


area
splinter hemorrhage on nail bed
Tenderness and swelling on distal
femur

Fragile blood vessels and


Particularly small peripheral vessels
Swollen joints

Listlessness and pallor with weakness


hyperkeratosis

Anemia associated s/s: weakness,


pallor and irritability
hyperkeratosis

Laboratory: microcytic hypochromic


anemia
leukopenia
Prolonged BT, low plasma
and platelet ascorbic acid
Hemorrhagic perifolliculitis

Microcytic hypochromic anemia

X-Ray: Subperiostial hemorrhage


Ground glass appearance of
epiphyseal plates

Subperiostial hemorrhage
Hydroxylation of collagen resulting to
ground glass appearance of
epiphyseal plates

leukopenia
Prolonged bleeding test results
Hemorrhagic perifolliculitis