Vitamin & Mineral Deficiencies
- B1 (Thiamin):
- infantile beriberi: congestive heart failure, edema, neuritis/polyneuropathy/opthalmoplegia,
hoarseness, anorexia, restlessness
- adult:
- dry beriberi – peripheral neuropathy, parasthesias, irritability, anorexia
- wet beriberi – heart failure, edema
- Wernicke Korsakoff syndrome – neurological problems and psychosis
- B2 (Riboflavin): blurred vision/photophobia, anorexia, mucositis/stomatitis/cheilosis/glossitis, anemia, nasolabial seborrhea,
lacrimation; think: "ribo
flavin"= "bad flavor"--> therefore cheilosis, anorexia, mucositis
- B3 (Niacin): Pellagra- 4 D's: dermatitis, diarrhea, dementia, death (and photosensitivity).Also
see
Hartnup's Disease
- B6 (Pyridoxine): infantile seizure, hyperacusis, microcytic anemia,
dermatitis/ nasolabial
seborrhea, peripheral neuritis
- B12 (Cobalamin): megaloblastic anemia, peripheral neuropathy, posterior
lateral column disease, vitiligo
- Biotin: alopecia, brawny dermatitis, hypotonia, hyperesthesia, death'; think:
similar to zinc
deficiency
- Folate: megaoblastic anemia, glossitis, leukopenia, diarrhea,
impaired growth
- Vit C (ascorbic acid): Scurvy- irritability, purpura, bleeding gums/gingivitis,
cuteaneous/ periosteal /petechial hemorrhage, aching bones;
T-cell
dysfunction, ophthalmic problems (blepharitis, conjunctivitis, corneal
opacities)
- Zinc: alopecia, dermatitis, frequent infections (secondary to T-cell
dysfunction).
Acrodermatitis enteropathica: autosomal recessive inherited
defect in zinc transport, presents 1-2 months after birth if formula-fed, or
1-2 months after stopping breastfeeding: erythematous,
crusted patches around the mouth and
eyes, on the distal
extremities, and in the perineum.
- Vit A: nightblindness, xerophthalmia, follicular hyperkeratosis
- Vit D: Rickets- decreased bone mineralization
- frontal bossing
- open anterior fontanelle
- craniotabes (thinning of the outer table of skull)
- chest: rachitic rosary (palpable enlargement of costochondral junctions);
Harrison’s groove (horizontal depression along lower border of chest); pigeon
breast (forward projecting sternum)
- skeleton – genu valgum, genu varum, widening of wrist, kyphoscoliosis
- labs: may see normal or decreased calcium, decreased phosphorus, increased
alkaline phosphatase, high PTH
- Vit E: hemolysis in the preterm infant,
neuro: muscle weakness, areflexia, ataxia,
ophthalmoplegia; CNS changes (cerebellar signs) in cystic fibrosis;
- Vit K deficiency: prolonged PT,
hemorrhage; hemorraghic disease of the newborn with increased PT; decreased clotting
factors (II, VII, IX,X)
- Copper deficiency:
- signs include microcytic anemia, chronic diarrhea, neutropenia, flaring of
long bone metaphysis, periosteal elevations, fractures
- Menkes Kinky Hair Syndrome
- x-linked recessive defect in copper transport
ATPase
- characterized by growth retardation, abnormal hair (kinky, colorless,
friable), cerebellar degeneration, optic atrophy, and early death (usually by
age 3 if untreated)
- progressive neurodegenerative condition; symptoms begin during first few
months of life – hypothermia, hypotonia, and generalized myoclonic seizures
- serum copper and
ceruloplasmin levels are low, but cellular copper content
is increased (copper uptake across the brush border of intestine is increased
but transport from these cells into plasma is defective)
- copper-histidine therapy given subcutaneously each day for life
(particularly if started during neonatal period) has been shown to be
effective in preventing neurologic deterioration in some patients
- Selenium deficiency: cardiomyopathy, abnormalities of hair and nails,
myositis, macrocytic anemia
- Iodine deficiency: signs include goiter and cretinism cretinism
(hypothyroid dwarfism with mental deficiency)
Also see:
Fat soluble vitamins, deficiency vs excess
As painful as it may be to remember these, repetition is the key. Some are
more common than the others, but all are fair game when it comes the boards.
Good luck.
Chief Resident Pearl 2004