Syndromes Flashcards
Most common cause of genital ambiguity
CAH
Pearly papule CA
Basal cell CA
Most common immunodeficiency worldwide
IgA deficiency
Most common immunodeficiency in the Philippines
SCID
Most common nephropathy worldwide
IgA nephropathy
Undernourished child with recurrent infections
SCID
Crumpled paper/tissue appearance
BM histiocytes (Gaucher cells)
Cherry red spot in the macula
Tay-Sach’s Disease
Niemann Pick’s Disease
Self mutilation + hyperuricemia
Lesh Nyhan syndrome
Mousy or musty odor
Phenylketonuria
Defective neutrophils leading to recurrent infections
Chronic granulomatous disease
Louis-Bar syndrome is also known as
Ataxia-telangiectasia
Podagra
Gout
Rich in uric acid: sardines, menudo at igado, beets sprouts, tougi
Meningococcus + adrenal crisis
Waterhouse-Friedrichson syndrome
Cherry-red diaper syndrome
Serratia marcescens
Precocious puberty + polyostotic fibrous dysplasia + unilateral cafe=au-lait spots
McCune Albright Syndrome
Unilateral cafe-au-lait spots: coast of Maine
Smooth philtrum + thin upper lip
Fetal alcohol syndrome
Obesity + hypoventilation + somnolence + erythocytosis
Pickwickian syndrome
Similar to OSA
Hepatic vein thrombosis
Budd Chiari Syndrome
Post-sinusoidal obstruction
Abdominal enlargement with ascites
Malingering (fabrication of a clinically convincing disease)
Münchausen syndrome
Post MI pericarditis
Dressler’s syndrome
Autoimmune + pericardial friction rub
Chinese restaurant syndrome is due to
MSG reaction
Chest pain, burning sensation over parts of the body
Contralateral loss of pain and temperature sensation with ipsilateral loss of proprioception and touch
Brown-Sequard Syndrome
Hemi-section of the cord
Keratoconjunctivitis sicca + xerostomia (dry mouth)
Sjögren’s syndrome