free-downloads CSEVideos




Endocrine case

Discussion in 'Spot Diagnosis' started by Xerxles, Dec 2, 2012.

  1. Xerxles

    Xerxles Well-Known Member

    Joined:
    Nov 10, 2012
    Messages:
    55
    Likes Received:
    12
    Trophy Points:
    145
    Practicing medicine in:
    South Africa

    481689_541261459235326_1528015354_n.jpg
     

    Add Reply
    ioanna likes this.

  2. bb100

    bb100 Bronze Member

    Joined:
    Jun 7, 2012
    Messages:
    450
    Likes Received:
    54
    Trophy Points:
    845
    Macroglossia
     

  3. ioanna

    ioanna Active member

    Joined:
    Sep 9, 2012
    Messages:
    13
    Likes Received:
    1
    Trophy Points:
    25
    Occupation:
    medical student
    Practicing medicine in:
    Greece
    cretinism
     

  4. nettenett

    nettenett Young Member

    Joined:
    Dec 2, 2012
    Messages:
    1
    Likes Received:
    0
    Trophy Points:
    5
    Practicing medicine in:
    Norway
    Hypothyroidism
     

  5. sampath

    sampath Famous Member

    Joined:
    Oct 26, 2011
    Messages:
    66
    Likes Received:
    5
    Trophy Points:
    320
    Occupation:
    MO/NICU
    Practicing medicine in:
    Sri Lanka
    Congenital Hypothyroidism
     

  6. Emergency medicine Mike

    Emergency medicine Mike Bronze Member

    Joined:
    Jul 28, 2012
    Messages:
    839
    Likes Received:
    38
    Trophy Points:
    1,245
    Gender:
    Male
    Practicing medicine in:
    Czech Republic
    Congenital hypothyroidism.
     

  7. dr.angela

    dr.angela Bronze Member

    Joined:
    Jan 13, 2012
    Messages:
    361
    Likes Received:
    24
    Trophy Points:
    695
    Occupation:
    Doctor
    Practicing medicine in:
    Macedonia
    Congenital hypothyroidism
     

  8. drkdab

    drkdab Active member

    Joined:
    Nov 18, 2012
    Messages:
    47
    Likes Received:
    5
    Trophy Points:
    70
    Occupation:
    medical student
    Practicing medicine in:
    Ireland
    congenital hypothyriodism
     

  9. Rocket Queen

    Rocket Queen Super Moderator

    Joined:
    Mar 29, 2011
    Messages:
    1,098
    Likes Received:
    52
    Trophy Points:
    4,345
    Practicing medicine in:
    Serbia
    Congenital Hypothyroidism
     

  10. neo_star

    neo_star Moderator

    Joined:
    Nov 4, 2012
    Messages:
    775
    Likes Received:
    184
    Trophy Points:
    1,545
    Practicing medicine in:
    India
    Related Self Assessment Question

    Blood samples of a 3-day-old full-term infant are sent for screening to identify diseases that would have serious, permanent consequences without prompt and appropriate treatment. What is the most appropriate treatment for hypothyroidism?

    A. Special infant formula
    B. Hormone therapy
    C. Vitamin therapy
    D. Antibiotic prophylaxis
    E. Sunlight

    EXPLANATION:

    In galactosemia, an enzyme deficiency (galactose-l-phosphate uridyl transferase) results in a block in the metabolic pathway of galactose and leads to the accumulation of galactose-l-phosphate in the tissues. Infants with this condition develop serious damage to liver, brain, and eyes after being fed milk containing lactose (a disaccharide compound of glucose and galactose). Clinical manifestations include lethargy, vomiting and diarrhea, hypotonia, hepatomegaly and jaundice, failure to thrive, and cataracts. The course of the disease in untreated patients is variable; death from liver failure and inanition can occur; most untreated patients develop physical and mental retardation. Treatment consists of prompt elimination of lactose-containing milk from the diet in infancy and, as a more varied diet is introduced, exclusion of foods that contain casein, dry milk solids, whey, or curds.

    Phenylketonuria, a genetically determined disorder with an autosomal recessive pattern of inheritance, is caused by the absence of an enzyme that metabolizes phenylalanine to tyrosine. The resultant accumulation of phenylalanine and its metabolites in the blood leads to severe mental retardation in untreated patients. Treatment consists of a diet that maintains phenylalanine at levels low enough to prevent brain damage but adequate to support normal physical and mental development. Careful supervision of the low-phenylalanine diet and monitoring of blood levels are necessary. Special formulas are available for the infant; older children have difficulty following the diet. It is not clear when and if the diet can be discontinued.

    Biotinidase is the enzyme responsible for breakdown of biocytin (the lysyl precursor of biotin) to free biotin. Deficiency of the enzyme, which is inherited as an autosomal recessive trait, results in malfunctioning of the biotin-dependent mitochondrial enzymes and in organic acidemia. Clinical problems related to the deficiency appear several months or years after birth and include dermatitis, alopecia, ataxia, hypotonia, seizures, developmental delay, deafness, immunodeficiency, and metabolic acidosis. The treatment is lifelong administration of free biotin.

    The treatment of congenital hypothyroidism with oral levothyroxine sodium should begin as early as possible to prevent psychomotor retardation. Periodic measurement of T3, T4, and TSH is necessary to assess the response to therapy and the need for adjustment of the dose of thyroxine. Careful evaluation of somatic growth by plotting sequential measurements and monitoring bone age is essential.

    The answer is B.

     

    Last edited: Jan 24, 2013

Share This Page

<