23 November Flashcards
What are investigation findings in PCOS?
Raised LH:FSH ratio
Prolactin- normal or elevated
Testosterone: Normal or elevated
Sex Hormone Binding globulin- low
What is the screening for polycystic kidney disease?
Abdominal US on patients with positive family history
What are the US diagnostic criteria for polycystic Kidney disease?
Two cysts uni/bilaterally <30 years
Two cysts in both kidneys 30-59 years
Four cysts in both kidneys >60 years
What are the triad of symptoms of HSP?
Arthralgia
Nephritis
Rash
What is tested for on heel prick test?
Sickle cell
Cystic Fibrosis
PKU
Congenital hypothyroidism
Maple syrup urine disease
Isovaleric acidaemia
Glutaric aciduria type 1
Homocystinuria
Medium chain acyl-CoA dehydrogenase deficiency
What is Gauchers disease?
Lysosomal storage disease
Autosomal recessive disorder
This leads to lipid accumulation in the liver, spleen, kidneys, brain, and bone marrow
More common in Ashkenazi Jewish population
What are symptoms of Gauchers disease?
Bruising
Bleeding
Increased infections
Due to pancytopenia
What are signs of Gauchers disease?
Hepatosplenomegaly
Jaundice=late sign and poor prognosis
Lipid laden macrophages
What is the triad of symptoms seen in Budd Chiari syndrome?
Ascites
Abdominal Pain
Hepatomegaly
What is a ganglion cyst?
Fluid filled cyst near joint or tendon
Often develops near wrist or back of hand
What are features of ganglion cyst?
Lump soft and smooth
Contains clear gelatinous fluid and appears pale cream tissue
What is a lipoma?
Benign tumour of fat cells
Often found on back, shoulders and trunk
Feel rubbery and mobile on palpation
Yellow lobulated but smooth appearance
What is osteosarcoma?
Malignancy of bone
Often occurs in children/teens
Found in metaphyseal region of long bones
What is found on XR?
Codman triangle and sunburst appearance
What other cancer is osteosarcoma commonly associated with?
Retinoblastoma
(mutation of rb gene increases risk of osteosarcoma)
