Syndromes Flashcards

0
Q

Most common cause of genital ambiguity

A

CAH

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1
Q

Pearly papule CA

A

Basal cell CA

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2
Q

Most common immunodeficiency worldwide

A

IgA deficiency

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3
Q

Most common immunodeficiency in the Philippines

A

SCID

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4
Q

Most common nephropathy worldwide

A

IgA nephropathy

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5
Q

Undernourished child with recurrent infections

A

SCID

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6
Q

Crumpled paper/tissue appearance

A

BM histiocytes (Gaucher cells)

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7
Q

Cherry red spot in the macula

A

Tay-Sach’s Disease

Niemann Pick’s Disease

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8
Q

Self mutilation + hyperuricemia

A

Lesh Nyhan syndrome

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9
Q

Mousy or musty odor

A

Phenylketonuria

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10
Q

Defective neutrophils leading to recurrent infections

A

Chronic granulomatous disease

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11
Q

Louis-Bar syndrome is also known as

A

Ataxia-telangiectasia

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12
Q

Podagra

A

Gout

Rich in uric acid: sardines, menudo at igado, beets sprouts, tougi

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13
Q

Meningococcus + adrenal crisis

A

Waterhouse-Friedrichson syndrome

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14
Q

Cherry-red diaper syndrome

A

Serratia marcescens

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15
Q

Precocious puberty + polyostotic fibrous dysplasia + unilateral cafe=au-lait spots

A

McCune Albright Syndrome

Unilateral cafe-au-lait spots: coast of Maine

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16
Q

Smooth philtrum + thin upper lip

A

Fetal alcohol syndrome

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17
Q

Obesity + hypoventilation + somnolence + erythocytosis

A

Pickwickian syndrome

Similar to OSA

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18
Q

Hepatic vein thrombosis

A

Budd Chiari Syndrome

Post-sinusoidal obstruction
Abdominal enlargement with ascites

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19
Q

Malingering (fabrication of a clinically convincing disease)

A

Münchausen syndrome

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20
Q

Post MI pericarditis

A

Dressler’s syndrome

Autoimmune + pericardial friction rub

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21
Q

Chinese restaurant syndrome is due to

A

MSG reaction

Chest pain, burning sensation over parts of the body

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22
Q

Contralateral loss of pain and temperature sensation with ipsilateral loss of proprioception and touch

A

Brown-Sequard Syndrome

Hemi-section of the cord

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23
Q

Keratoconjunctivitis sicca + xerostomia (dry mouth)

A

Sjögren’s syndrome

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24
Q

Mikulicz disease

A

Sjorgen’s syndrome/sicca syndrome

25
Q

Barlow syndrome is also known as the

A

Floppy mitral valve syndrome

Mid-systolic click

26
Q

Most common syndrome associated with MVP

A

Marfan’s

27
Q

Most common tumor associated with Zollinger Ellison Syndrome

A

Gastrinoma

Severe peptic ulcer disease

28
Q

Eisenmenger’s syndrome is associated with what cardiac defect

A

Ventricular septal defect

Presents with pulmonary hypertension and cyanosis

29
Q

Most common form of PID

A

Salpingitis (inflammatory Fallopian tube)

Predisposes to ectopic pregnancy

30
Q

Vasculitis presenting with uveitis, optic atrophy, oral and genital ulcers

A

Behcet’s syndrome

Think: “oral and genital ulcers”

31
Q

Triad of HTN, hypokalemia, low/normal renin

A

Conn’s syndrome

32
Q

2 most common cancers involved in SVC

A

1) Lung

2) Breast

33
Q

Edema + engorgement of the vessels of the face, neck, and arms, with dypsnea

A

Superior vena cava syndrome

34
Q

Pemberton’s sign

A

SVC syndrome

Caused by obstruction of the SVC in bronchogenic CA

35
Q

ECG: tachycardia, short PR, delta wave (early QRS complex)

A

Wolf-Parkinson-White Syndrome

“Delta wave”

36
Q

ECG: saw tooth

A

Atrial flutter

37
Q

ECG: U wave

A

Hypokalemia

38
Q

Intra uterine synechiae

A

Asherman’s syndrome

39
Q

Adhesions within the endometrial cavity causing amenorrhea and infertility

A

Asherman’s syndrome

40
Q

Cyanotic flushing with diarrhea

A

Carcinoid tumor

Serotonin + 5HT

41
Q

Ovarian fibroma + ascites + hydrothorax/pleural effusion

A

Meigs’ Syndrome

42
Q

Polyposis (hamartomas) with buccal pigmentation

A

Peutz-Jeghers Syndrome

43
Q

Verner Morrison Syndrome is also known as

A

VIPoma/Pancreatic cholera

WADHA
Watery diarrhea, hypokalemia, achlorhydira

44
Q

Components of VIPoma

A

Watery diarrhea, hypokalemia, achlorhydira

Non-beta islet cell tumor
Associated with MEN type 1

45
Q

Post partum pituitary necrosis leading to hypopituitarism

A

Sheehan’s syndrome

46
Q

PCOS is also known as

A

Stein-Leventhal syndrome

Polycystic ovary, infertility, amenorrhea, and hirsutism

47
Q

Situs invertus + chronic sinusitis + bronchiectasis

A

Kartagener’s syndrome

Aka Primary ciliary dyskinesia
Defect: Dynein (retrograde)

48
Q

Hamman-Rich Syndrome

A

Interstitial fibrosis of the lung

49
Q

Allergic granulomatous angitis presenting with asthma + fever + eosinophilia

A

Churg-Strauss syndrome

50
Q

Seizures + hepatic failure after a viral infection treated by aspirin

A

Reye’s syndrome

51
Q

Microscopic finding of Reye’s syndrome

A

Microvesicular fatty change

52
Q

Most common abdominal emergency in the neonate

A

NEC

53
Q

Most common cause of acute pancreatitis? Chronic pancreatitis?

A

Acute: gallstones
Chronic: alcohol

54
Q

Most common benign pulmonary lesion

A

Hamartoma

55
Q

Mottling of the teeth

A

Hyperfluorosis

56
Q

Most common primary bone tumor in adults? Pediatric patients?

A

Adults: Multiple myeloma
Pedia: Osteosarcoma

57
Q

M protein spike in electrophoresis

A

Multiple myeloma

58
Q

Caterpillar cells

A

Multiple meyolma

59
Q

Mott cells

A

Multiple myeloma

Spoked wheel appearance