Weird Name Syndromes Flashcards
(77 cards)
1
Q
Von Recklinghausen’s Disease
A
- Aka Neurofibromatosis Type 1
- Neurofibromas, Lisch nodules, café au lait spots
- Associated with pheochromocytoma
2
Q
Sturge-Weber Syndrome
A
- Cutaneous facial angiomas, seizures, skull radiopacities
- “Train Track” calcifications
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
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
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
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
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
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
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
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)
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
12
Q
WAGR Syndrome
A
- hereditary deletion of WT1 gene
- Wilms Tumor
- Aniridia
- Genital abnormalities
- Retardation (mental and motor)
13
Q
Denys-Drash Syndrome
A
- hereditary mutation of WT1 gene
- Wilms Tumor
- Progressive renal disease
- Male pseudohermaphroditism
14
Q
Beckwith-Wiedemann Syndrome
A
- Hereditary mutation of WT2 gene
- Wilms tumor
- Neonatal Hypoglycemia
- Muscular Hemihyperplasia
- Organomegaly
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
16
Q
Meigs Syndrome
A
- Triad of clinical features: o Ascites o Pleural effusion o Benign ovarian tumors (mostly fibromas) - Resolves with tumor removal
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
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
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
20
Q
Sheehan Syndrome
A
- Infarction of pituitary gland from pregnancy
- Caused by gland enlargement without in vasculature
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
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)
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
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
25
Caisson Disease
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
26
Lesch-Nyhan Syndrome
- 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
27
Lambert-Eaton Syndrome
- 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
28
Stevens-Johnson Syndrome
- 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
29
Dandy-Walker Malformation
- Congenital failure of cerebellar vermis to develop
- Clinical features: CSF flow obstruction
o Dilated 4th ventricle
o Absent cerebellum
o Hydrocephalus
30
Arnold-Chiari Malformation Type II)
- 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
31
Krabbe Disease
- 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
Waldestrom Macroglobulinemia
- B cell lymphoma with monoclonal IgM production
| - Increases blood viscosity -> visual & neurologic deficits
33
Lettere-Siwe Disease
- 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
Hand-Schulter-Christian Disease
- Subtype of Langerhans Histiocytosis
| - Causes skin rash, exophthalmos, lytic skull lesions
35
Behcet Syndrome
- Immune complex vasculitis
- Associated with HLA-B51
- Features
o Recurrent apthous oral/genital ulcers
- Precipitated by HSV or parvovirus
- Turkish/Eastern people
36
Williams Syndrome
- 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
Turner Syndrome
- 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
Marfan Syndrome
- - 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
Kartagener Syndrome
```
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
Friedrich Ataxia
- 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
Wolff-Parkinson-White Syndrome
- 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
Cystic Fibrosis
- 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
Meniere Syndrome
- Cause: INCREASED volume and pressure of endolymph
- Characteristics:
o Vertigo
o Low frequency tinnitus (unilateral)
o Fullness of ear
44
Gilbert Syndrome
- Mild INCREASE in UDP-glucuronosyltransferase
- Characteristics;
o INCREASED UC bilirubin
o Mild jaundice with stress or illness
45
Crigler-Najjar Syndrome
- Genetically absent UDP-GT
- Characteristics:
o INCREASED UC bilirubin
o Jaundice
o Kernicterus (later in life)
46
Dubin-Johnson Syndrome
- Defective liver excretion of bilirubin
- Characteristics;
o INCREASED Conjugated bilirubin
o DARK BLACK liver
47
Rotor Syndrome
- Mild defect in bilirubin liver excretion
- Characteristics
o INCREASED conjugated bilirubin
o Regular liver
48
Wilson Disease
- 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
Lynch Syndrome
- 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
Fanconi Syndrome
- 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
Bartter Syndrome
- Hereditary defect in reabsorption in thick LOH
- Features:
o Metabolic alkalosis
o Hypokalemia ( INCRAESED K reabsorption)
o Hypercalcuria (INCREASEAD Ca excretion)
52
Gitelman Syndrome
- Hereditary reabsorption defect in DCT causing INCREASED NaCl excretion
- Features:
o Metabolic alkalosis
o Low K and Mg in blood
53
Conn Syndrome
Primary aldosteronism
54
Henry Schonlein Purpura
- 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
Takayasu Arteritis
```
Pulseless Disease
- Affects aortic branches
- Young Asian females*
- Features:
o Visual/neurological symptoms
o ABSENT PULSE IN UPPER EXTREMITIES
```
56
Kawasaki Arteritis
- Affects coronary artery
- Young Asian kids
- Features:
o STRAWBERRY TONGUE
o Fever/enlarged lymph nodes
o Rash on hands and feet
o Conjunctivitis
57
Kallmann Syndrome
- 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
Berger Disease
- Necrotizing vasculitis of FINGERS
- Features:
o Gangrene of fingers
o Autoamputation
o Raynaud’s phenomenon
**Assoc. w/ HEAVY SMOKERS**
59
Alport Syndrome
- Inherited defect of type IV collagen
- Thinning & splitting of basement membrane
- Features:
o HEARING LOSS
o OCULAR DISTURBANCES
o Hematuria and glomerulonephritis
60
Von Gierke Disease
```
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
McArdle Disease
```
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
Cori Disease
Glycogen Storage Disease Type III
- Mild form of Von Gierke
- Gluconeogenesis is normal
- Normal blood lactate levels
63
Pompe Disease
```
Glycogen Storage Disease Type II
- Altered activity of a-1,4-glucosidase
- Features:
o Cardiac pathology
o Exercise intolerance
o Reduced muscle tone
```
64
Tay-Sachs Disease
```
Deficiency of lysosomal enzyme: Hexosaminidase A
- Features:
o Progressive neurodegeneration
o CHERRY RED SPOT ON MACULA
o Hyperreflexia
o No hepatosplenomegaly
```
65
Niemann-Pick Disease
```
Deficiency of lysosomal enzyme: Sphingomyelinase
- Features:
o Progressive neurodegeneration
o Hepatosplenomegaly
o Cherry red macula
o Foam cells (lipid filled macrophages)
```
66
Gaucher Disease
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
Fabry Disease
```
Deficiency of lysosomal enzyme: a-galactosidase A
- Triad:
o Peripheral neuropathy
o Angiokeratomas
o Hypohidrosis
```
68
Cri-Du-Chat Syndrome
- Congenital deletion of chromosome 5
- Features:
o Microcephaly
o High-pitched crying (cat)
o Ventricular septal defect
69
Patau Syndrome
- Trisomy 13 (puberty age)
- Features:
o Rocker bottom feet
o Severe intellectual disability
o Polydactyly
o Congenital heart defect
o Polycystic kidney disease
70
Edwards syndrome
- 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
Down Syndrome
- 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
Fragile X Syndrome
- 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
McCune-Albright Syndrome
- Mutation activating Gs Protein
- Genetic mosaicism
- Features:
o Unilateral café-au-lait spots
o Endocrinopathy
o Polyostotic fibrous dysplasia
74
Prader-Willi Syndrome
- Imprinting disorder – Chromosome 15
- mom’s gene is silenced, dad’s gene is mutated
- features:
o obesity
o intellectual disability
o hypogonadism
75
Angelman Syndrome
- 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
Duchenne Muscular Dystrophy
```
- 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
Becker Muscular Dystrophy
- Deletion of dystrophin gene
o Non-frameshift deletion
- Partial function of dystrophin protein
- Less severe features than Duchenne
