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.

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

Patient symptoms Classic symptoms of cobalamin deficiency

(+)schilling’s test
Macrocytic, hypochromic RBC
Hypersegmented neutrophils, leukopenia
thrombocytopenia
Low vitamin B12, normal RBC folate
(+)schilling’s test
Macrocytic, hypochromic RBC
Hypersegmented neutrophils, leukopenia
thrombocytopenia
Low vitamin B12, normal RBC folate

Chief complaint: Anemic signs and symptoms:

fatigue, weakness, dizziness, shortness of breath fatigue, weakness, dizziness, shortness of breath
Numbness, tingling in extremities Neurologic s/s: numbness, paresthesia
Physical examination
vibratory and position sense loss Diminished vibratory, position sense
loss of balance concomitant loss of balance
beefy red tongue Beefy red tongue
achlorydia Low intrinsic factor
anorexia Weight loss
Vomiting over last 3months vomiting
Hepatomegaly Hepatomegaly
Jaundice and Slightly icteric eyes jaundice
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 parent’s report a diet of unsupplemented cow’s 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 Classic symptoms of scurvy

Physical Examination: sore, spongy, and
Bleeding gums bleeding gums with loose teeth

Purpura, petechial over nasal and oral area Fragile blood vessels and
splinter hemorrhage on nail bed Particularly small peripheral vessels
Tenderness and swelling on distal femur Swollen joints
Listlessness and pallor with weakness Anemia associated s/s: weakness,
pallor and irritability
hyperkeratosis hyperkeratosis

Laboratory: microcytic hypochromic anemia Microcytic hypochromic anemia

leukopenia leukopenia
Prolonged BT, low plasma Prolonged bleeding test results
and platelet ascorbic acid
Hemorrhagic perifolliculitis Hemorrhagic perifolliculitis

X-Ray: Subperiostial hemorrhage Subperiostial hemorrhage

Ground glass appearance of epiphyseal plates Hydroxylation of collagen resulting to ground
glass appearance of epiphyseal plates