IV. Case study presentation on vitamin E deficiency
Chief Compliant (CC):
An 8-week-old boy presents with failure to thrive from
birth. His mother is receiving treatment for ulcerative
collitis. He has been fed with formula milk. His mother
was advised to give him supplementary feeds of Aptamil
formula infant milk and his calorie intake at that time was
sufficient for his expected weight.
Past Medical History:
He has had anaemia of 6.6 g/dl with polychromasia,
nucleated red blood cells and immature myeloid cells in the
peripheral blood. There is no family history of anaemia.
Patient Evaluation (PE):
On examination he was noted to be wasted, pale, and
lethargic. His chest was a little over inflated and there
was an audible expiratory wheeze. The heart sounds were
normal and the abdomen was soft without masses or
organomegaly.
Labs:
haemoglobin concentration of 6.6g/dl, white cell count of
13.9 x 109, an MCV of 32.8 pg, myelocytes .36 x 10 9,
promyelocytes .36 x 10 9, blast cells .36 x 109 /L, nucleated
red blood cells .7 x109, platelets 392 x 109, polychromasia, a
reticulocyte count of 120 x 1012 /L, total protein 43 g/L
with an albumin of 24 g/L, gamma glutamyl transaminase of
211 IU/L, aspartate aminotransferase of 85 IU/L, total
bilirubin of 42 umol/L, unconjugated bilirubin 40 umol/L,
alkaline phosphatases of 610 IU/L, negative Coomb’s test,
serum tocopherol of 1.8 mg/L (normal range 5-15 mg/L),
two positive sweat tests of 90 and 96 mmol/L, sweat
sodium of 69 and 73 mmol/L on 265 and 330 mg of
sweat, and glucose-6-phosphate dehydrogenase, pyruvate
kinase, urinary adrenaline, and metadrenaline metabolites
were with in normal limits.
Gross Pathology:
A skeletal survey failed to show evidence of pathological
bone lesions and an abdominal ultra-sound scan was normal.
Micropathology:
Blood cultures and virology titers were negative
Treatment:
Vitamin E therapy of 50 mg per day and pancreatic
enzyme replacement of two Creon capsules by mouth
(containing lipase 8000 u per capsule) per meal
Discussion:
Normocytic normochromic anaemia and hypoproteinamia
are consistent with a state of protein calorie malnutrition.
Elevated reticulocyte count at birth falls after a couple of
days. Haemoylsis was confirmed from the labs. The
presence of reticulocytes with haemoylsis occurs due to
vitamin E deficiency. Polyunsaturated fats from the breast
milk formula, high iron content of the formula, and
malabsorption of vitamin E were the likely causes of
haemoylsis. Cystic fibrosis was confirmed by the sweat
tests and also a DNA analysis was performed.
Malabsorption of vitamin E occurs in cystic fibrosis patients
because they have pancreatic insufficiency and inadequate
lipase production that results in fat malabsorption. Failure
to thrive occurs in 5-13% of patients with cystic fibrosis and
is attributed to milk intolerance and hypoproteinaemia.
Other evidence of vitamin E deficiency in this child was
normochromic normocytic anaemia.