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Spot Diagnosis - Identify the syndrome

Discussion in 'Spot Diagnosis' started by neo_star, Dec 29, 2012.

  1. neo_star

    neo_star Moderator

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    synd_zps0240c700.jpg

    Hint: this disorder is a ciliopathy.
    2[SUP]nd[/SUP] Hint - this patient will have spasticity as opposed to hypotonia in Prader-Willi syndrome.
     

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    Last edited: Dec 30, 2012

  2. neo_star

    neo_star Moderator

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    Hint : The image of the retina shown above is characteristic of retinitis pigmentosa and the constellation of features shown are charecteristic of one of the syndromes that causes - Retinitis pigmentosa
     

  3. dr.angela

    dr.angela Bronze Member

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    Bardet–Biedl syndrome
     

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  4. neo_star

    neo_star Moderator

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    Answer: Bardet”“Biedl syndrome aka Laurence”“Moon”“Bardet”“Biedl or Laurence”“Moon”“Biedl”“Bardet syndrome.

    [h=2]Summary of the syndrome[/h] Bardet”“Biedl syndrome is a pleiotropic disorder with variable expressivity and a wide range of clinical variability observed both within and between families. The main clinical features are rod”“cone dystrophy, with childhood-onset visual loss preceded by night blindness; postaxial polydactyly; truncal obesity that manifests during infancy and remains problematic throughout adulthood; specific learning difficulties in some but not all individuals; male hypogenitalism and complex female genitourinary malformations; and renal dysfunction, a major cause of morbidity and mortality.



    [h=2]Major clinical features[/h]
    • Eyes: Pigmentary retinopathy, poor visual acuity, low vision, and/or blindness caused by an impaired photoreceptor transport mechanism in the retina[SUP].[/SUP][SUP][/SUP]
    • Nose: Loss of, or reduced sense of, smell. (anosmia). Some patients claim extra-sensitive sense of smell.[SUP][/SUP]
    • Hand and foot: Polydactyly (extra digits) or syndactyly (webbing of fingers and toes).
    • Cardiovascular system: Hypertrophy of interventricular septum and left ventricle and dilated cardiomyopathy.
    • Gastrointestinal system: Fibrosis.
    • Urogenital system: Hypogonadism, renal failure, urogenital sinuses, ectopic urethra, uterus duplex, septate vagina, and hypoplasia of the uterus, ovaries, and fallopian tubes.
    • Growth and development: Mental and growth retardation.
    • Behavior and performance: a wide variety of socialization and social interaction problems have been identified with BBS. Some refer to it as a kind of "mild-Autism." Many children who are later (explicitly and formally) diagnosed with the syndrome have gone through an extended period of time where school and medical professionals have struggled to find a name for the child's problems over several years.
    • Defective thermosensation or mechanosensation. New finding reported in October 2007: "hitherto unrecognized, but essential, role for mammalian basal body proteins in the acquisition of mechano- and thermosensory stimuli [highlight potential] clinical features of ciliopathies in humans."[SUP][/SUP]
    • Additional features: Obesity, possibly related to a decreased sensory function that would normally indicate satiation. Hyperphagia in some patients.[SUP][/SUP]
    [h=2]Pathophysiology[/h] The detailed biochemical mechanism that leads to BBS is still unclear.
    The gene products encoded by these BBS genes, called BBS proteins, are located in the basal body and cilia of the cell.[SUP][/SUP]

    Credit to Dr. Angela for solving the challenge. (-:


     

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