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
Mikulicz disease
Sjorgen’s syndrome/sicca syndrome
Barlow syndrome is also known as the
Floppy mitral valve syndrome
Mid-systolic click
Most common syndrome associated with MVP
Marfan’s
Most common tumor associated with Zollinger Ellison Syndrome
Gastrinoma
Severe peptic ulcer disease
Eisenmenger’s syndrome is associated with what cardiac defect
Ventricular septal defect
Presents with pulmonary hypertension and cyanosis
Most common form of PID
Salpingitis (inflammatory Fallopian tube)
Predisposes to ectopic pregnancy
Vasculitis presenting with uveitis, optic atrophy, oral and genital ulcers
Behcet’s syndrome
Think: “oral and genital ulcers”
Triad of HTN, hypokalemia, low/normal renin
Conn’s syndrome
2 most common cancers involved in SVC
1) Lung
2) Breast
Edema + engorgement of the vessels of the face, neck, and arms, with dypsnea
Superior vena cava syndrome
Pemberton’s sign
SVC syndrome
Caused by obstruction of the SVC in bronchogenic CA
ECG: tachycardia, short PR, delta wave (early QRS complex)
Wolf-Parkinson-White Syndrome
“Delta wave”
ECG: saw tooth
Atrial flutter
ECG: U wave
Hypokalemia
Intra uterine synechiae
Asherman’s syndrome
Adhesions within the endometrial cavity causing amenorrhea and infertility
Asherman’s syndrome
Cyanotic flushing with diarrhea
Carcinoid tumor
Serotonin + 5HT
Ovarian fibroma + ascites + hydrothorax/pleural effusion
Meigs’ Syndrome
Polyposis (hamartomas) with buccal pigmentation
Peutz-Jeghers Syndrome
Verner Morrison Syndrome is also known as
VIPoma/Pancreatic cholera
WADHA
Watery diarrhea, hypokalemia, achlorhydira
Components of VIPoma
Watery diarrhea, hypokalemia, achlorhydira
Non-beta islet cell tumor
Associated with MEN type 1
Post partum pituitary necrosis leading to hypopituitarism
Sheehan’s syndrome
PCOS is also known as
Stein-Leventhal syndrome
Polycystic ovary, infertility, amenorrhea, and hirsutism
Situs invertus + chronic sinusitis + bronchiectasis
Kartagener’s syndrome
Aka Primary ciliary dyskinesia
Defect: Dynein (retrograde)
Hamman-Rich Syndrome
Interstitial fibrosis of the lung
Allergic granulomatous angitis presenting with asthma + fever + eosinophilia
Churg-Strauss syndrome
Seizures + hepatic failure after a viral infection treated by aspirin
Reye’s syndrome
Microscopic finding of Reye’s syndrome
Microvesicular fatty change
Most common abdominal emergency in the neonate
NEC
Most common cause of acute pancreatitis? Chronic pancreatitis?
Acute: gallstones
Chronic: alcohol
Most common benign pulmonary lesion
Hamartoma
Mottling of the teeth
Hyperfluorosis
Most common primary bone tumor in adults? Pediatric patients?
Adults: Multiple myeloma
Pedia: Osteosarcoma
M protein spike in electrophoresis
Multiple myeloma
Caterpillar cells
Multiple meyolma
Mott cells
Multiple myeloma
Spoked wheel appearance
