Eponymous Flashcards
Which collagen abnormality leads to sensorineural deafness and renal failure?
Alport’s syndrome (in the X-linked form of the disease)
Four Features of Alport’s syndrome:
Due to abnormality in collagen IV
Up in the Alp’s you get:
Sensorineural deafness, as your ears pop
Haematuria, after producing all the RBCs with altitude
Renal failure + Pyelonephritis, dehydrated from skiing
What treatment options are available for those with Alport’s syndrome (rare)?
No effective treatment but
Renal failure- dialysis or kidney transplant
Haematuria- looking at bone marrow transplant
What is the difference between Asperger’s syndrome and autism?
Asperger’s:
Is less severe than autism
Is not associated with aloneness or linguistic difficulty
Allows for more teaching of emotional understanding
What is Bardet-Biedl syndrome?
What are it’s features?
Rare cause of chronic renal failure in children. Calyceal cysts and blunting ± retinal dystrophy ± low IQ ± hypogonadism ± obesity ±polydactyly
What is the difference between Laurence-Moon-Biedl syndrome and Bardet-Biedl syndrome?
Laurence Moon syndrome lacks polydactyly
Bardot-Biedl syndrome lacks paraparesis
How is Bardet-Biedl syndrome inherited?
Autosomal recessive
(Causes chronic kidney failure in children, with retinal dystrophy, polydactyly
Batten’s syndrome is associated with death of which cells?
Photoreceptors and neurones (due to CLN3 gene defect)
Leads to visual loss, childhood dementia, fits, ataxia
What movement abnormalities are seen in Batten’s syndrome?
(Rare, due to neuronal + photoreceptor death)
Fits Ataxia Spasticity Athetosis Dystonia
How can Batten’s syndrome be investigated if suspected?
Batten’s syndrome= visual loss and movement abnormalities due to photoreceptor and neurone death
Skin biopsy
Lipopigments in lymphocytes and urine
Becker’s muscular dystrophy has which pattern of inheritance?
X-linked recessive
Dystrophin gene mutation leading to semifunctionality
What is the difference between Duchenne’s and Becker’s muscular dystrophy on a genetic level and anatomical level?
Duchenne’s = total loss of dystrophin functionality
muscle replaced with fibroadipose tissue
Becker’s = semi-functional dystrophin
Slower progression, later onset
Which rare syndrome is the chief cause of macroglossia?
Beckwith-Wiedemann syndrome (IGF2 gene overexpression)
What gene is over expressed in Beckwith-Wiedemann syndrome?
IGF2- insulin GF Leading to Hypoglycaemia Macroglossia Macrosomia- big baby Visceromegaly
Overexpression of IGF2 (as in Beckwith-Wiedemann syndrome) can cause which type of tumour?
Embryonic tumours (known as Wilms syndrome)
Boruneville’s disease is associated with which three main symptoms?
Epilepsy
Low IQ
Adenoma Sebaceum (little white spots on face)
What is the name of the syndrome that describes hypochondria with at least 13 unexplained medical symptoms?
Briquet’s syndrome
Bruton’s X-linked agammaglobulinaemia is associated with susceptibility to which type of infection?
Tyrosine kinase mutation leads to reduced mature B cells (and Ig)
= at risk of bacterial infections (not viral, which rely on T cells)
What pattern of inheritance does Bruton’s agammaglobulinaemia have?
X-Linked
= boys getting many bacterial infections, due to tyrosine kinase mutation and lack of B cell maturity
Which anatomical differences are seen in those with Bruton X linked Agammaglobulinaemia?
Lack of B cells due to tyrosine kinase mutation So no: Peyer's patches (intestinal lymphocytes) Tonsils Appendix
How is Bruton X-linked Agammglobulinaemia treated?
Bone marrow transplant
= lack of mature B cells and Ig due to tyrosine kinase mutation
What anatomical abnormality occurs in Buchanan’s syndrome?
Single artery supplies pulmonary and systemic vasculature, originated out of the base of the heart. Leads to cyanosis from birth, requires surgical intervention.
What is the inheritance of Alport’s syndrome?
X linked- due to abnormality in collagen IV subunit
or autosomal recessive
(Sensorineural deafness, pyelonephritis, haematuria, renal failure)
In a child who is born with a congenital abnormality whose parents are first degree cousins, what type of genetic abnormalities are more likely?
Autosomal recessive
Normal trunk and head size, with shortened limbs
Long forehead, very short stature
Name the syndrome?
Achondroplasia
Possible genetic testing techniques?
Karyotyping (for large chromosome abnormalities)
FISH- fluorescence in situ hybridisation
Array CSH- comparative genomic hybridisation
