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
Mikulicz disease
Sjorgen's syndrome/sicca syndrome
25
Barlow syndrome is also known as the
Floppy mitral valve syndrome Mid-systolic click
26
Most common syndrome associated with MVP
Marfan's
27
Most common tumor associated with Zollinger Ellison Syndrome
Gastrinoma Severe peptic ulcer disease
28
Eisenmenger's syndrome is associated with what cardiac defect
Ventricular septal defect Presents with pulmonary hypertension and cyanosis
29
Most common form of PID
Salpingitis (inflammatory Fallopian tube) Predisposes to ectopic pregnancy
30
Vasculitis presenting with uveitis, optic atrophy, oral and genital ulcers
Behcet's syndrome Think: "oral and genital ulcers"
31
Triad of HTN, hypokalemia, low/normal renin
Conn's syndrome
32
2 most common cancers involved in SVC
1) Lung | 2) Breast
33
Edema + engorgement of the vessels of the face, neck, and arms, with dypsnea
Superior vena cava syndrome
34
Pemberton's sign
SVC syndrome Caused by obstruction of the SVC in bronchogenic CA
35
ECG: tachycardia, short PR, delta wave (early QRS complex)
Wolf-Parkinson-White Syndrome "Delta wave"
36
ECG: saw tooth
Atrial flutter
37
ECG: U wave
Hypokalemia
38
Intra uterine synechiae
Asherman's syndrome
39
Adhesions within the endometrial cavity causing amenorrhea and infertility
Asherman's syndrome
40
Cyanotic flushing with diarrhea
Carcinoid tumor Serotonin + 5HT
41
Ovarian fibroma + ascites + hydrothorax/pleural effusion
Meigs' Syndrome
42
Polyposis (hamartomas) with buccal pigmentation
Peutz-Jeghers Syndrome
43
Verner Morrison Syndrome is also known as
VIPoma/Pancreatic cholera WADHA Watery diarrhea, hypokalemia, achlorhydira
44
Components of VIPoma
Watery diarrhea, hypokalemia, achlorhydira Non-beta islet cell tumor Associated with MEN type 1
45
Post partum pituitary necrosis leading to hypopituitarism
Sheehan's syndrome
46
PCOS is also known as
Stein-Leventhal syndrome Polycystic ovary, infertility, amenorrhea, and hirsutism
47
Situs invertus + chronic sinusitis + bronchiectasis
Kartagener's syndrome Aka Primary ciliary dyskinesia Defect: Dynein (retrograde)
48
Hamman-Rich Syndrome
Interstitial fibrosis of the lung
49
Allergic granulomatous angitis presenting with asthma + fever + eosinophilia
Churg-Strauss syndrome
50
Seizures + hepatic failure after a viral infection treated by aspirin
Reye's syndrome
51
Microscopic finding of Reye's syndrome
Microvesicular fatty change
52
Most common abdominal emergency in the neonate
NEC
53
Most common cause of acute pancreatitis? Chronic pancreatitis?
Acute: gallstones Chronic: alcohol
54
Most common benign pulmonary lesion
Hamartoma
55
Mottling of the teeth
Hyperfluorosis
56
Most common primary bone tumor in adults? Pediatric patients?
Adults: Multiple myeloma Pedia: Osteosarcoma
57
M protein spike in electrophoresis
Multiple myeloma
58
Caterpillar cells
Multiple meyolma
59
Mott cells
Multiple myeloma Spoked wheel appearance