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CBSE > Weird Name Syndromes > Flashcards

Weird Name Syndromes Flashcards

1
Q

Von Recklinghausen’s Disease

A
  • Aka Neurofibromatosis Type 1
  • Neurofibromas, Lisch nodules, café au lait spots
  • Associated with pheochromocytoma
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2
Q

Sturge-Weber Syndrome

A
  • Cutaneous facial angiomas, seizures, skull radiopacities

- “Train Track” calcifications

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3
Q

Von Hippel-Lindau Disease

A
  • Associated with inactivation of VHL gene (tumor suppressor gene)
    o Leads to increase of VEGF and PDGF
  • capillary hemangioblastomas in retina/cerebellum
  • congenital cysts/neoplasms in kidney, liver, and pancreas
    o Renal neoplasms are RCC
  • Associated with pheochromocytoma
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4
Q

Osler-Weber-Rendu Syndrome

A
  • Aka Hereditary Hemorrhagic Telangiectasia
  • Spider veins on mucosa and skin
  • Rupture leads to nosebleeds, GI bleeds, or hematuria
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5
Q

Wiskott-Aldrich Syndrome

A 
-	3 Primary Characteristics:
o	Recurrent infections worsening with age (immunodeficiency)
o	eczema 
o	thrombocytopenia (easy bleeding)
-	Combined T and B lymphocyte deficiency
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6
Q

Chediak-Higashi Syndrome

A
  • Defective microtubules that form phagolysosome pathway
  • Clinical features:
    o Immunodeficiency (pyogenic infections)
    o albinism
    o progressive neurologic defects
  • Recurrent staph and strep infections
  • Histo = granular giant cells
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7
Q

Digeorge Syndrome

A 
-	Deletion of chromosome 22q11
o	More often spontaneous, not hereditary
-	Maldevelopment of 3rd and 4th pharyngeal pouches
-	Characteristics:
o	Learning disabilities
o	Speech/hearing abnormalities
o	Abnormal facial development
	Cleft lip/palate
o	Thymus/Parathyroid hypoplasia
	hypocalcemia
o	Heart defects
o	Psychological defects
	Schizophrenia
o	Bone/joint issues
	Scoliosis, rheumatoid arthritis
o	Immunodeficiency from T cell defects -> viral, fungal, and protozoa infections
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8
Q

Budd-Chiari Syndrome

A
  • Caused by occlusion of hepatic veins draining liver leading to infarction & congestive liver disease
  • Absence of JVD
  • Assoc. with hypercoaguable states
  • Triad of symptoms:
    o Abdominal pain
    o Ascites
    o Liver enlargement
  • “Nutmeg” Liver
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9
Q

Potter Sequence

A 
-	Caused by oligohydramnios leading to compression of developing structures
o	Renal agenesis (bilateral), embryotic urinary obstruction
-	Characterized by:
o	Lung hypoplasia (cause of death)
o	Flat face
o	Low set ears
o	Extremity deformities
o	Clubbed feet
-	Incompatible with life
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10
Q

Churg-Strauss Syndrome

A
  • Aka eosinophilic granulomatosis with polyangitis
  • Vasculitis disorder leading to ischemia
  • Characterized by:
    o ASTHMA (allergic phase)
    o Eosinophilia (eosinophilic phase)
    o Vasculitis (vasculitis phase)
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11
Q

Tuberous Sclerosis

A
  • Genetic disorder causing the development of tumors in multiple organs
  • Including:
    o Brain (subependymal giant cell astrocytomas)
     seizures, dev. delay, intellectual disability
    o Eyes
    o Heart (rhabdomyomas)
     Obstruction, arrhythmias
    o Kidney (angiomyolipoma)
     Decreased kidney function, internal bleeding
    o Lungs
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12
Q

WAGR Syndrome

A
  • hereditary deletion of WT1 gene
  • Wilms Tumor
  • Aniridia
  • Genital abnormalities
  • Retardation (mental and motor)
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13
Q

Denys-Drash Syndrome

A
  • hereditary mutation of WT1 gene
  • Wilms Tumor
  • Progressive renal disease
  • Male pseudohermaphroditism
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14
Q

Beckwith-Wiedemann Syndrome

A
  • Hereditary mutation of WT2 gene
  • Wilms tumor
  • Neonatal Hypoglycemia
  • Muscular Hemihyperplasia
  • Organomegaly
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15
Q

Asherman Syndrome

A
  • aka intrauterine adhesions
  • Acquired condition where scarring causes anterior & posterior walls to stick together
  • Results in:
    o Secondary amenorrhea
    o Infertility
    o Placental abnormalities
  • Causes may include: infection, previous uterine surgeries, genital tuberculosis
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16
Q

Meigs Syndrome

A 
-	Triad of clinical features:
o	Ascites
o	Pleural effusion
o	Benign ovarian tumors (mostly fibromas)
-	Resolves with tumor removal
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17
Q

Pierre-Robin Sequence

A
  • Small lower jaw (mandibular hypoplasia/micrognathia)
  • Glossoptosis (positioned abnormally posterior)
  • Cleft palate (tongue placement during palatal fusion)
  • Breathing/feeding difficulties
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18
Q

Stickler Syndrome

A

Stickler Syndrome
- Group of hereditary conditions
- Characteristics:
o Flattened face from underdeveloped midface bones
o Pierre Robins sequence
o Eye abnormalities = Myopia, glaucoma, cataracts, and retinal detachment
o Hearing loss (middle ear abnormalities)
o Hypermobile joints with early onset osteoarthritis
o Spinal abnormalities

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19
Q

Van der Woude Syndrome

A
  • mutation in IRF6 gene on chromosome 1
  • IRF6 gene involved with palate/mouth development
  • MOST COMMON SYNDROME ASSOCIATED WITH CLEFT LIP/PALATE
    o Only syndrome presenting only lip or only palate
  • Characteristics:
    o Cleft lip/palate
    o Lower lip pits
    o Hypodontia
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20
Q

Sheehan Syndrome

A
  • Infarction of pituitary gland from pregnancy

- Caused by gland enlargement without  in vasculature

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21
Q

Zollinger-Ellison Syndrome

A
  • Peptic ulcers caused by excessive acid secretion
  • Caused by gastrinoma = tumor secreting gastrin which stimulates acid production/secretion
  • Symptoms include abdominal pain and diarrhea
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22
Q

Nelson Syndrome

A
  • Occurs after bilateral adrenalectomy as tx for pituitary adenoma (Cushing syndrome)
  • Results in hypertrophy of pituitary from ^ ACTH secretion
  • Characterized by:
    o Hyperpigmentation (^ ACTH)
    o Bitemporal hemianopsia (mass compression)
    o Headaches (compression)
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23
Q

Liddle Syndrome

A
  • Genetic mutation causing a increase in degradation of Na+ channels in CD
  • Presents in childhood
  • Mimics hyperaldosteronism from increased Na+ reabsorption
    o HTN, hypokalemia, metabolic alkalosis
  • Tx is K+ sparing diuretics to block Na+ channels
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24
Q

Waterhouse-Friderichsen Syndrome

A
  • Hemorrhagic necrosis of adrenal glands
  • Caused by sepsis and DIC in young children with Neisseria meningitidis infection
  • Presents as acute adrenal insufficiency
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25
Q

Caisson Disease

A

Decompression Sickness
- Associated with deep diving or other depressurizing activities
- Dissolved gases come out of solution into bubbles inside body
- Can form or migrate to any part of body
- Symptoms/complications:
o Joint pain
o Rashes
o Paralysis
o Avascular necrosis of bone

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26
Q

Lesch-Nyhan Syndrome

A
  • X-linked deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT)
    o Key enzyme for purine synthesis
  • Clinical features =
    o mental retardation
    o self-mutilation
    o Hyperuricemia leading to secondary gout
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27
Q

Lambert-Eaton Syndrome

A
  • Antibodies against presynaptic calcium channels of NM junction
  • Cause = small cell carcinoma of lung
    o Paraneoplastic syndrome
  • Results in impaired ACH release  muscle weakness
  • Similar presentation to Myasthenia Gravis but eyes not involved
    o Anti-cholinesterase drugs are not effective
  • Tx = cancer resection/therapy
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28
Q

Stevens-Johnson Syndrome

A
  • Epidermal condition with 3 characteristics
    o Erythema multiforme
    o Oral mucosal/lip lesions
    o Fever
  • Severe form (toxic epidermal necrolysis) caused by adverse drug reaction
    o Diffuse sloughing of skin
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29
Q

Dandy-Walker Malformation

A
  • Congenital failure of cerebellar vermis to develop
  • Clinical features: CSF flow obstruction
    o Dilated 4th ventricle
    o Absent cerebellum
    o Hydrocephalus
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30
Q

Arnold-Chiari Malformation Type II)

A
  • Congenital downward placement of cerebellar vermis and cerebellar tonsils through foramen magnum
  • Clinical features: CSF flow obstruction
    o Hydrocephalus
    o Brain stem and lower cranial nerve dysfunction
  • Associated with meningomyelocele
    o Paralysis inferior to defect
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31
Q

Krabbe Disease

A
  • Deficiency in galactocerebrosidase
    o Enzyme for metabolizing galactocerebroside
  • Lack of enzyme leads to accumulation of toxins lysosomes of macrophages and oligodendrocytes
  • Impaired cell function and toxin accumulation leads to progressive demyelination
32
Q

Waldestrom Macroglobulinemia

A
  • B cell lymphoma with monoclonal IgM production

- Increases blood viscosity -> visual & neurologic deficits

33
Q

Lettere-Siwe Disease

A
  • Subtybe of Langerhans Histiocytosis
  • Malignant
  • Affects skin and multiple organ systems, fatal under 2 yrs
  • Subtybe of Langerhans Histiocytosis
  • Malignant
  • Affects skin and multiple organ systems, fatal under 2 yrs
34
Q

Hand-Schulter-Christian Disease

A
  • Subtype of Langerhans Histiocytosis

- Causes skin rash, exophthalmos, lytic skull lesions

35
Q

Behcet Syndrome

A
  • Immune complex vasculitis
  • Associated with HLA-B51
  • Features
    o Recurrent apthous oral/genital ulcers
  • Precipitated by HSV or parvovirus
  • Turkish/Eastern people
36
Q

Williams Syndrome

A
  • also called Beuren syndrome
  • congenital disorder from deletion on chromosome 7
  • characteristics:
    o pre/postnatal retardation
    o hypercalcemia
    o pulmonary and aortic stenosis
    o short stature
    o mental deficiency
    o hypodontia and microgenia
    o “elfin-like” facial features = round full face with thick lips and large mouth
    o pectus excavatum
37
Q

Turner Syndrome

A
  • affects females only, very common
  • cause = loss of second X chromosome
  • hallmarks: cystic hygroma, lymphedema, coarctation of aorta (no femoral pulse)
  • characteristics: vary from mild to severe
    o short stature
    o infertility
    o delayed puberty
    o lymphedema
    o chronic ear infection
    o associated autoimmune disorders
    o cognitive impairments
    o low set ears and downturning eyelids
38
Q

Marfan Syndrome

A
    • mutation in fibrillin-1 gene causing impaired connective tissue development
  • characteristics:
    o dislocated lens (ectopia lentis)
    o aortic defects (aneurysm/dissection) -> MOST COMMON CAUSE OF DEATH
    o mitral valve prolapse/aortic valve regurg -> palpitations
    o tall, slender with elongated fingers
    o scoliosis/kyphosis
    o pectus excavatum
    o myopia/glaucoma/cataracts
    o dural ectasia
  • onset of symptoms can occur b/w infancy and adulthood
39
Q

Kartagener Syndrome

A 
Cilia Dyskinesia
-	mutations/deletions in genes responsible for structure/function of cilia
-	immotile or dysmotile cilia as result 
-	characteristics:
o	NARDs
o	Frequent resp. infections/sinus infections
o	Chronic nasal congestion
o	Hearing loss
o	Hydrocephalus
o	infertility
40
Q

Friedrich Ataxia

A
  • mutation in FXN gene important for mitochondria function
  • affects function of nerve and muscle cells
  • characteristics:
    o impaired muscle coordination
    o muscle weakness
    o impaired speech, vision and hearing
    o hypertrophic cardiomyopathy
    o diabetes
    o scoliosis
41
Q

Wolff-Parkinson-White Syndrome

A
  • unknown cause
  • condition with abnormal heart conduction causing arrhythmias
  • congenital accessory pathway allowing signal to bypass AV node and travel to ventricles more rapidly than normal
    o signal transduction may travel along accessory pathway back to atria after reaching ventricles
    o disrupts coordinated heart contraction leading to tachycardia
  • characteristics:
    o tachycardia
    o arrhythmia
    o dizziness
    o palpitations
    o SOB/syncope
  • Most common associated arrhythmia = paroxysmal supraventricular tachycardia
  • Associated with Ebstein anomaly
42
Q

Cystic Fibrosis

A
  • CFTR mutation
  • Characteristics
    o Recurrent respiratory infections
    o Digital clubbing
    o Infertility and azoospermia
    o Failure to thrive
  • Diagnosis: elevated sweat chloride levels and genetic testing
43
Q

Meniere Syndrome

A
  • Cause: INCREASED volume and pressure of endolymph
  • Characteristics:
    o Vertigo
    o Low frequency tinnitus (unilateral)
    o Fullness of ear
44
Q

Gilbert Syndrome

A
  • Mild INCREASE in UDP-glucuronosyltransferase
  • Characteristics;
    o INCREASED UC bilirubin
    o Mild jaundice with stress or illness
45
Q

Crigler-Najjar Syndrome

A
  • Genetically absent UDP-GT
  • Characteristics:
    o INCREASED UC bilirubin
    o Jaundice
    o Kernicterus (later in life)
46
Q

Dubin-Johnson Syndrome

A
  • Defective liver excretion of bilirubin
  • Characteristics;
    o INCREASED Conjugated bilirubin
    o DARK BLACK liver
47
Q

Rotor Syndrome

A
  • Mild defect in bilirubin liver excretion
  • Characteristics
    o INCREASED conjugated bilirubin
    o Regular liver
48
Q

Wilson Disease

A
  • Mutation of copper transporting ATPase on chromosome 13
    o INCREASED copper accumulation in tissues and urine
    o DECREASED in ceruplasmin
  • Characteristics:
    o Liver disease before age 40
    o Neurologic/psychiatric disease (tremor, parkinsonism)
    o Kayser-Fleisher Rings = deposits in cornea
    o Hemolytic anemia
    o Fanconi Syndrome (renal)
49
Q

Lynch Syndrome

A
  • Hereditary nonpolyposis colorectal cancer
  • Cause: mutation of DNA mismatch repair gene causing microsatellite instability
  • Characteristics:
    o CRC typically proximal colon
    o Endometrial, ovarian, and skin cancers
  • AK53
50
Q

Fanconi Syndrome

A
  • Reabsorption defect in PCT leading to INCREASED excretion of glucose, AAs, HCO3, etc
  • Cause = hereditary (Wilson Disease, glycogen storage disease), ischemia, drugs, lead poisoning, MM
  • Features: metabolic acidosis
51
Q

Bartter Syndrome

A
  • Hereditary defect in reabsorption in thick LOH
  • Features:
    o Metabolic alkalosis
    o Hypokalemia ( INCRAESED K reabsorption)
    o Hypercalcuria (INCREASEAD Ca excretion)
52
Q

Gitelman Syndrome

A
  • Hereditary reabsorption defect in DCT causing INCREASED NaCl excretion
  • Features:
    o Metabolic alkalosis
    o Low K and Mg in blood
53
Q

Conn Syndrome

A

Primary aldosteronism

54
Q

Henry Schonlein Purpura

A
  • IgA immune complex deposition causing vasculitis
  • Common in kids
  • Features:
    o Palpable purpura on butt and legs
    o GI pain and bleeding
    o Hematuria
    Previous URTI
55
Q

Takayasu Arteritis

A 
Pulseless Disease
-	Affects aortic branches
-	Young Asian females*
-	Features:
o	Visual/neurological symptoms
o	ABSENT PULSE IN UPPER EXTREMITIES
56
Q

Kawasaki Arteritis

A
  • Affects coronary artery
  • Young Asian kids
  • Features:
    o STRAWBERRY TONGUE
    o Fever/enlarged lymph nodes
    o Rash on hands and feet
    o Conjunctivitis
57
Q

Kallmann Syndrome

A
  • Defective migration of GnRH neurons & development of olfactory bulbs
  • Features:
    o Anosmia
    o Hypogonadism
    o DECREASED LH, FSH, testosterone (From DECREASED GnRH)
    o Infertility
58
Q

Berger Disease

A
  • Necrotizing vasculitis of FINGERS
  • Features:
    o Gangrene of fingers
    o Autoamputation
    o Raynaud’s phenomenon
    Assoc. w/ HEAVY SMOKERS
59
Q

Alport Syndrome

A
  • Inherited defect of type IV collagen
  • Thinning & splitting of basement membrane
  • Features:
    o HEARING LOSS
    o OCULAR DISTURBANCES
    o Hematuria and glomerulonephritis
60
Q

Von Gierke Disease

A 
Glycogen storage disease Type I
-	Deficiency of G-6-Phosphate
-	impaired gluconeo & glycogenolysis
-	Features
o	Severe fasting hypoglycemia
o	High glycogen in liver
o	High blood lactate
o	High uric acid -> Gout
61
Q

McArdle Disease

A 
Glycogen Storage Disease Type IV
-	Deficient of sk. muscle glycogen phosphorylase
o	Impaired muscle glycogenolysis
-	Hallmark: FLAT VENOUS LACTATE CURVE WITH NORMAL RISE IN AMMONIA
-	Features:
o	Red urine with exercise
o	Muscle cramps
o	Arrythmia
62
Q

Cori Disease

A

Glycogen Storage Disease Type III

  • Mild form of Von Gierke
  • Gluconeogenesis is normal
  • Normal blood lactate levels
63
Q

Pompe Disease

A 
Glycogen Storage Disease Type II
-	Altered activity of a-1,4-glucosidase
-	Features:
o	Cardiac pathology
o	Exercise intolerance
o	Reduced muscle tone
64
Q

Tay-Sachs Disease

A 
Deficiency of lysosomal enzyme: Hexosaminidase A
-	Features:
o	Progressive neurodegeneration
o	CHERRY RED SPOT ON MACULA
o	Hyperreflexia
o	No hepatosplenomegaly
65
Q

Niemann-Pick Disease

A 
Deficiency of lysosomal enzyme: Sphingomyelinase
-	Features:
o	Progressive neurodegeneration
o	Hepatosplenomegaly
o	Cherry red macula
o	Foam cells (lipid filled macrophages)
66
Q

Gaucher Disease

A

Deficiency of lysosomal enzyme: glucocerebrosidase
- Most common
- Features:
o Avascular necrosis of femur
o Gaucher cells – lipid filled macrophages with crinkled appearance
o Osteoporosis

67
Q

Fabry Disease

A 
Deficiency of lysosomal enzyme: a-galactosidase A
-	Triad: 
o	Peripheral neuropathy
o	Angiokeratomas
o	Hypohidrosis
68
Q

Cri-Du-Chat Syndrome

A
  • Congenital deletion of chromosome 5
  • Features:
    o Microcephaly
    o High-pitched crying (cat)
    o Ventricular septal defect
69
Q

Patau Syndrome

A
  • Trisomy 13 (puberty age)
  • Features:
    o Rocker bottom feet
    o Severe intellectual disability
    o Polydactyly
    o Congenital heart defect
    o Polycystic kidney disease
70
Q

Edwards syndrome

A
  • Trisomy 18 (election voting age)
  • Features:
    o Prominent occiput
    o Rocker-bottom feet
    o Intellectual disability
    o Non-disjunction
    o Clenched fists
    o Low set ears
    o Congenital heart defect
71
Q

Down Syndrome

A
  • Trisomy 21 (Drinking age)
  • Features: (5 As)
    o Advanced maternal age
    o Atresia (duodenal)
    o Atrioventricular defect
    o Alzheimer disease (early onset)
    o AML/ALL (high risk)
72
Q

Fragile X Syndrome

A
  • Trinucleotide repeat in FMR Gene causing decreased expression
  • X linked inheritance
  • Features:
    o Autism
    o Macroorchidism
    o Long face and jaw
    o Mitral valve prolapse
73
Q

McCune-Albright Syndrome

A
  • Mutation activating Gs Protein
  • Genetic mosaicism
  • Features:
    o Unilateral café-au-lait spots
    o Endocrinopathy
    o Polyostotic fibrous dysplasia
74
Q

Prader-Willi Syndrome

A
  • Imprinting disorder – Chromosome 15
  • mom’s gene is silenced, dad’s gene is mutated
  • features:
    o obesity
    o intellectual disability
    o hypogonadism
75
Q

Angelman Syndrome

A
  • Imprinting disorder – Chromosome 15
  • Dad’s gene is silenced, mom’s gene is mutated
  • Features:
    o Inappropriate laughter (happy puppet)
    o Intellectual disability
    o Seizures
76
Q

Duchenne Muscular Dystrophy

A 
-	Deletion of dystrophin gene
o	Frameshift of nonsense deletion
-	Progressive myofiber damage
-	Features:
o	Pseudohypertrophy of calf muscles
o	Gowers sign – using arms to stand
o	Waddling gate
77
Q

Becker Muscular Dystrophy

A
  • Deletion of dystrophin gene
    o Non-frameshift deletion
  • Partial function of dystrophin protein
  • Less severe features than Duchenne

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