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Old 06-25-2011
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Question select the most likely vitamin deficiency.

A 18-year-old girl with cystic fibrosis is brought by her father to her primary care physician with complaints of frequent stumbling on ambulation and difficulty maintaining steadiness of posture when sitting. These symptoms have progressed slowly over the last 2 months. Vital signs are normal. Physical exam shows a limited upward gaze nystagmus, decreased deep tendon reflexes, decreased proprioception and vibratory sense, and distal muscle weakness. The patient also has a profoundly impaired ability to perform finger-nose and rapid alternating movement tests.

select the most likely vitamin deficiency.

Answer Choices
A. Vitamin A deficiency
B. Vitamin B12 deficiency
C. Vitamin C deficiency
D. Vitamin D deficiency
E. Vitamin E deficiency
F. Thiamine deficiency
G. Pyridoxine deficiency
H. Folate deficiency
I. Biotin deficiency


case 2
A 20-year-old male patient is admitted to the hospital 6 months ago following a motorcycle accident resulting in a severe closed head injury. The man has experienced recurrent fungal skin infections resistant to treatment for 1 month and severe vomiting over the last 2 days. Review of the patient's records shows he was well before the injury. He now suffers severe permanent cognitive impairment and requires continuous high-dose phenytoin therapy to manage chronic debilitating tonic-clonic seizures. The patient is resting comfortably in no apparent distress. He is unable to converse coherently. Vital signs are normal. Physical exam is striking for nearly total alopecia. A periorofacial erythematous macular rash is present along with severe seborrheic dermatitis and several truncal ringlike lesions consistent with tinea corpus infection.
select the most likely vitamin deficiency.
Answer Choices
A. Vitamin A deficiency
B. Vitamin B12 deficiency
C. Vitamin C deficiency
D. Vitamin D deficiency
E. Vitamin E deficiency
F. Thiamine deficiency
G. Pyridoxine deficiency
H. Folate deficiency
I. Biotin deficiency

Last edited by USMLE-Syndrome; 06-25-2011 at 02:40 AM.
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  #2  
Old 06-25-2011
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1- vit E deficiency look like friedreich ataxia


2 - biotin deficiency i know it from Alopecia
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case 1

Option E (Vitamin E deficiency) is correct. Patients with cystic fibrosis are at risk for vitamin E deficiency. Characteristics of this deficiency are classically described in the vignette.
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Old 06-25-2011
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Default case 2

case 2

Option I (Biotin deficiency) is correct. Biotin deficiency is relatively rare except, classically, in patients who regularly consume raw egg whites. Phenytoin in particular among several antiseizure medications has a well-recognized association with biotin deficiency. Alopecia, treatment-resistant fungal skin infections, seborrheic keratitis, and vomiting are typical consequences of biotin deficiency.

High-yield Hit 1
Biotin
Biotin is important for carboxylation reactions
Biotin is normally synthesized by intestinal flora. It serves as a coenzyme in multienzyme complexes involved in carboxylation reactions. It is important in lipogenesis, gluconeogenesis, and the catabolism of the branched-chain amino acids. The majority of the requirement for biotin is met from synthesis in the bowel by intestinal bacteria. Consumption of raw eggs can cause biotin deficiency because the egg-white protein, avidin, combines with biotin, preventing its absorption. Interestingly, certain inherited single or multiple carboxylase deficiencies can also lead to apparent biotin deficiency syndrome. Symptoms of biotin deficiency include depression, hallucinations, muscle pain and dermatitis. Children with multiple decarboxylase deficiency also demonstrate immunodeficiency disease.
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Old 07-09-2016
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Profound biotinidase deficiency can be detected with newborn screening. The first symptoms of biotin deficiency are associated with the skin and hair.

Symptoms develop within 3-5 weeks of the onset of deficient biotin intake. The most common cutaneous findings include the following:

Dry skin
Seborrheic dermatitis
Fungal infections
Rashes, including erythematous periorofacial macular rash
Fine and brittle hair
Hair loss or total alopecia

Approximately 1-2 weeks later, neurologic symptoms begin to develop. The most common neurologic findings include the following:

Mild depression, which may progress to profound lassitude and, eventually, to somnolence
Changes in mental status
Generalized muscular pains (myalgias)
Hyperesthesias and paresthesias
Intestinal tract symptoms also develop and most commonly include the following:

Nausea, occasionally severe
Vomiting

Anorexia
Spastic tetraparesis in a young woman associated with deficiency of biotinidase has been reported.


Causes of biotin deficiency include the following:

Eating raw egg whites
Some mistakenly believe that raw egg-white consumption is the only cause of biotin deficiency. Nonetheless, a diet that contains raw egg whites quickly and almost invariably leads to biotin deficiency.

Total parenteral nutrition without biotin supplementation
Several cases of biotin deficiency in patients receiving prolonged total parenteral nutrition (TPN) therapy without added biotin have been reported. Therefore, all patients receiving TPN must also receive biotin at the recommended daily dose, especially if TPN therapy is expected to last more than 1 week. All hospital pharmacies currently include biotin in TPN preparations.

Anticonvulsant therapy
Prolonged use of certain drugs, especially phenytoin, primidone, and carbamazepine, may lead to biotin deficiency
; however, valproic acid therapy does not cause this condition. Some anticonvulsants inhibit biotin transport across the intestinal mucosa. Evidence suggests that these anticonvulsants accelerate biotin catabolism. Therefore, supplemental biotin, in addition to the usual minimum daily requirements, has been suggested for patients who are treated with anticonvulsants that have been linked to biotin deficiency.

Prolonged oral antibiotic therapy
Prolonged use of oral antibiotics has been associated with biotin deficiency. Alterations in the intestinal flora caused by the prolonged administration of antibiotics are presumed to be the basis for biotin deficiency.

Genetic mutation
Mikati et al reported a case of partial biotinidase deficiency (plasma biotinidase level of 1.3 nm/min/mL) in a 7-month-old boy.[22] The boy presented with perinatal distress followed by developmental delay, hypotonia, seizures, and infantile spasms without alopecia or dermatitis. The child's neurologic symptoms abated following biotin supplementation and antiepileptic drug therapy. DNA mutational analysis revealed that the child was homozygous for a novel E64K mutation and that his mother and father were heterozygous for the novel E64K mutation. We now report 140 known mutations in the biotinidase gene (BTD) that cause biotinidase deficiency.

Ketogenic diet (high-protein, low-fat)
In a mouse model, a ketogenic diet exaggerated biotin deficiency.
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Vitamin are essential part of human body to be healthy. Vitamin deficiency can be overcomed by consuming green vegetables and fruits.
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