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CNS DISEASES

The document provides a detailed overview of various endocrine diseases, their key differentiating features, and associated conditions. It covers pituitary adenomas, adrenal disorders, thyroid conditions, and diabetes mellitus, highlighting their clinical presentations, histological characteristics, and treatment options. Additionally, it includes information on genetic syndromes related to endocrine tumors and skin pathologies.

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jonas manalili
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0% found this document useful (0 votes)
10 views22 pages

CNS DISEASES

The document provides a detailed overview of various endocrine diseases, their key differentiating features, and associated conditions. It covers pituitary adenomas, adrenal disorders, thyroid conditions, and diabetes mellitus, highlighting their clinical presentations, histological characteristics, and treatment options. Additionally, it includes information on genetic syndromes related to endocrine tumors and skin pathologies.

Uploaded by

jonas manalili
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as DOCX, PDF, TXT or read online on Scribd
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ENDOCRINE

Disease Key Differentiating Information


- Most common hyperfunctioning pituitary adenoma
- Prolactin-secreting
- Chromophobic cells
Lactotroph Adenoma
- Dystrophic calcification on H&E
- Prolactinemia, galactorrhea, amenorrhea
- Treated with dopamine agonists (e.g., bromocriptine)
- Second most common functional adenoma
- GH-secreting → gigantism (child), acromegaly (adult)
Somatotroph Adenoma - Densely granulated (acidophilic, strong GH stain)
- Sparsely granulated (chromophobe, pleomorphic)
- Large tumors with subtle clinical signs
- ACTH-producing
- Cushing disease (pituitary), syndrome if adrenal or ectopic
Corticotroph Adenoma - Usually microadenomas
- Densely granulated
- Associated with Nelson syndrome post-adrenalectomy
- Produces LH/FSH
- Subtle or silent symptoms
Gonadotroph Adenoma - Usually nonfunctional
- Common in middle-aged adults
- Often present with mass effects
- Rare, <1% of pituitary tumors
Thyrotroph Adenoma - TSH-secreting
- Causes secondary hyperthyroidism
- Nonfunctional
Null Cell Adenoma / Oncocytoma - No hormone secretion
- Present with mass effect or pituitary failure
- Deficiency of pituitary hormones
- Causes: tumors, trauma, Sheehan syndrome, apoplexy, surgery
Hypopituitarism
- Symptoms depend on hormone affected
- Diabetes insipidus = hypothalamic in origin
- ADH deficiency (central or nephrogenic)
Diabetes Insipidus - Polyuria, dilute urine
- Causes: trauma, tumors, inflammation
SIADH (Syndrome of Inappropriate ADH) - Excessive ADH → water retention
Disease Key Differentiating Information
- Hyponatremia
- Common cause: small cell lung cancer
- Hypothalamic suprasellar tumor
Craniopharyngioma - From Rathke’s pouch remnant
- Visual disturbance, headaches
- Pineal gland tumor
Pineocytoma - Well-differentiated, slow-growing
- Common in adults
- Highly malignant pineal tumor
Pineoblastoma - Common in children
- Causes Parinaud syndrome
- Hypercortisolism
- Causes: exogenous steroids, ACTH-producing adenoma (Cushing disease), adrenal
Cushing Syndrome tumor, ectopic ACTH
- Features: truncal obesity, moon face, buffalo hump, striae
- Lab: 24h urine cortisol, dexamethasone suppression test
- Excess aldosterone → hypertension, hypokalemia
- Causes: idiopathic hyperplasia, adenoma (Conn’s syndrome), familial hyperaldosteronism
Primary Hyperaldosteronism
- Adenoma: solitary, yellow, lipid-laden
- Spironolactone bodies may be present
- Due to activation of RAAS
Secondary Hyperaldosteronism - Causes: renal artery stenosis, CHF, cirrhosis, pregnancy
- Increased renin levels
- Autosomal recessive
- 21-hydroxylase deficiency most common
- Salt-wasting, virilizing forms
Congenital Adrenal Hyperplasia (CAH)
- Enlarged adrenal glands
- Increased ACTH causes hyperplasia
- May cause ambiguous genitalia in newborns
- Usually functional → Cushing or Conn syndrome
- Well-circumscribed, yellow, <30g
Adrenocortical Adenoma
- Composed of zona fasciculata-like cells
- Nonfunctional variants possible
Adrenocortical Carcinoma - Large, invasive, necrotic, >200g
- Often functional → virilizing or Cushing features
- Malignant behavior
- Common in children and older adults
Disease Key Differentiating Information
- Immunostains: SF-1, inhibin, Melan A
- 90% cortex destroyed
- Causes: autoimmune, TB, fungal, metastatic tumors
Addison Disease (Primary Chronic Adrenal
- Features: hyperpigmentation, hypotension, hyperkalemia, hyponatremia, hypoglycemia
Insufficiency)
- Autoantibodies to 21-hydroxylase
- Associated with APS-1 and APS-2
- Acute adrenal hemorrhage → adrenal failure
- Classically due to Neisseria meningitidis sepsis
Waterhouse-Friderichsen Syndrome - Children > adults
- Massive hemorrhage obscures cortex
- Fatal without rapid steroid replacement
- Pituitary or hypothalamic cause → low ACTH
- No hyperpigmentation
Secondary Adrenocortical Insufficiency
- Normal aldosterone
- Adrenals small but cortex may be preserved
- Catecholamine-secreting tumor of adrenal medulla
- Rule of 10s: 10% bilateral, 10% extra-adrenal, 10% malignant
Pheochromocytoma - Clinical: episodic hypertension, headache, sweating, palpitations
- Histology: “zellballen” nests of chromaffin cells
- Diagnosed via plasma metanephrines or 24h urine catecholamines

Disease Key Differentiating Information


- Most common cause of hyperthyroidism- Autoimmune (TSI stimulates TSH receptor)- Diffuse gland
Graves Disease enlargement- Tall, crowded follicular epithelium; scalloped colloid- Lymphoid infiltrates- Exophthalmos,
pretibial myxedema
- Enlargement without hyperthyroidism- Causes: iodine deficiency, goitrogens- Colloid-rich follicles- No
Diffuse Nontoxic Goiter
capsule or invasion- Symmetric gland, often massive
- Irregular, nodular enlargement- Recurrent hyperplasia & involution- Cystic degeneration, hemorrhage,
Multinodular Goiter
fibrosis- Dominant nodule may mimic neoplasm- Risk of airway compression, dysphagia
Toxic Multinodular Goiter - Hyperthyroidism from autonomous nodules- Uneven iodine uptake on scan (“hot” nodules)- No
(Plummer Syndrome) exophthalmos or dermopathy (unlike Graves)
Thyroid Adenoma - Benign, solitary, encapsulated- From follicular epithelium- “Cold” or “hot” nodule on scan- Histology:
Disease Key Differentiating Information
uniform follicles, no invasion- Capsular integrity is key for diagnosis
- Most common thyroid cancer- Orphan Annie nuclei, nuclear grooves, inclusions- Psammoma bodies-
Papillary Carcinoma
Papillary architecture- Often lymph node metastasis
- Hematogenous spread (e.g., to bone, lungs)- Capsular and/or vascular invasion required for Dx- Minimally
Follicular Carcinoma
or widely invasive types- RAS or PAX8-PPARγ mutations
- Undifferentiated, highly aggressive- Elderly patients with rapid neck mass- Spindle/giant cells, necrosis,
Anaplastic Carcinoma
high mitoses- Poor prognosis
- Neuroendocrine tumor from C cells- Produces calcitonin- Amyloid stroma (congo red +ve)- Associated with
Medullary Carcinoma
MEN 2A and 2B (RET mutation)- May have diarrhea, flushing
- Extensive fibrosis of thyroid and adjacent structures- Hard, fixed mass mimicking carcinoma- IgG4-related
Riedel Thyroiditis
disease- Dense collagen and plasma cells
De Quervain (Granulomatous) - Painful thyroiditis- Follows viral infection (e.g., mumps, coxsackie)- Granulomas with giant cells- Self-
Thyroiditis limited; transient hyperthyroidism then hypothyroidism
Subacute Lymphocytic - Painless; often postpartum- Lymphocytic infiltrate with germinal centers- No Hurthle cell change- Mild
Thyroiditis hyperthyroid phase followed by recovery
- Autoimmune; most common hypothyroid cause in developed countries- Hurthle cells, lymphoid follicles
Hashimoto Thyroiditis
with germinal centers- Risk of lymphoma- Anti-TPO and anti-thyroglobulin antibodies
- Midline neck mass- Moves with swallowing- Lined by squamous or thyroid epithelium- May become
Thyroglossal Duct Cyst
infected or rarely transform (papillary carcinoma)
- Most commonly due to adenoma- High calcium, low phosphate- Bone resorption (“osteitis fibrosa
Primary Hyperparathyroidism
cystica”)- Brown tumors, nephrolithiasis- Cyclin D1 or MEN1 mutations
Secondary - Due to chronic hypocalcemia (e.g., renal failure)- High PTH, low/normal calcium- All glands enlarged
Hyperparathyroidism (hyperplasia)- Bone changes = renal osteodystrophy
- Autonomous PTH secretion after prolonged secondary HPT- Common post-renal transplant- High PTH and
Tertiary Hyperparathyroidism
calcium- May require parathyroidectomy
- Low PTH, low calcium, high phosphate- Causes: autoimmune, surgical, DiGeorge syndrome- Trousseau &
Hypoparathyroidism
Chvostek signs (tetany)- Basal ganglia calcifications possible
- End-organ resistance to PTH- High PTH, low calcium- Albright hereditary osteodystrophy: short stature,
Pseudohypoparathyroidism
round face, short 4th/5th metacarpals- GNAS1 mutation (imprinting effect)

Disease Pathologist Notes (Differentiating Features)


- Autoimmune destruction of β-cells- T-lymphocytic insulitis- ↓ insulin, ↑ glucagon- Associated with HLA-DR3/DR4-
Type 1 Diabetes Mellitus
Presents in childhood/adolescence
Type 2 Diabetes Mellitus - Insulin resistance + β-cell dysfunction- Islet amyloid deposits- Associated with obesity, metabolic syndrome- No
Disease Pathologist Notes (Differentiating Features)
insulitis
Monogenic Diabetes - Genetic defects in β-cell function (e.g., HNF1A, GCK)- Early onset; non-insulin-dependent- Autosomal dominant
(MODY) inheritance
Gestational Diabetes - Develops during pregnancy- Due to pregnancy-induced insulin resistance- Risk for macrosomia, future T2DM
Chronic Diabetes Mellitus – - Islet cell loss or amyloid (T2DM)- Pancreatic arteriosclerosis- Kidney: nodular glomerulosclerosis (Kimmelstiel-Wilson
Morphology nodules)- Retina: neovascularization, microaneurysms- Nerves: peripheral neuropathy, autonomic dysfunction
- Most common PanNET- Small, solitary, benign- Causes hypoglycemia (Whipple's triad)- High insulin-to-glucose ratio-
Insulinoma
Chromogranin+, synaptophysin+
Zollinger-Ellison Syndrome - Excess gastrin → peptic ulcers- Often in duodenum/pancreas- 25% associated with MEN1- Locally
(Gastrinoma) invasive/metastatic at diagnosis
Glucagonoma - ↑ Glucagon- Triad: mild diabetes, necrolytic migratory erythema, anemia- Malignant potential
Somatostatinoma - ↑ Somatostatin- Associated with diabetes, cholelithiasis, steatorrhea, hypochlorhydria- Usually malignant
VIPoma (WDHA Syndrome) - ↑ VIP- Watery diarrhea, hypokalemia, achlorhydria (WDHA)- Malignant
Pancreatic Carcinoid Tumor - Produces serotonin- Rare in pancreas- Confirm with IHC: chromogranin+, synaptophysin+, S100+ (sustentacular)
Pancreatic Polypeptide-
- Usually asymptomatic- Seen in MEN1- Confirm via hormonal assays
Secreting Tumor
Multi-Hormonal PanNETs - Produce ≥2 hormones- IHC staining critical for classification
MEN Type 1 (Wermer - Mutation in MEN1 (menin)- Tumors of: Parathyroid (hyperplasia), Pancreas (functional tumors), Pituitary
Syndrome) (prolactinoma)- Often multiple and functional tumors- Aggressive, recurrent
MEN Type 2A (Sipple - RET mutation (gain-of-function)- Triad: Medullary thyroid carcinoma (nearly 100%, C-cell hyperplasia),
Syndrome) Pheochromocytoma (40–50%, bilateral), Parathyroid hyperplasia (10–20%)
- RET mutation- Medullary thyroid carcinoma + pheochromocytoma- Mucosal neuromas, ganglioneuromas-
MEN Type 2B
Marfanoid habitus- No parathyroid involvement
MEN Type 4 - CDKN1B mutation (↓ p27 cell cycle inhibitor)- Similar features to MEN1- Involves parathyroid, pituitary, and gonads
SKIN
Disease Pathologic Key Features
Freckles (Ephelides) • ↑ Melanin in basal keratinocytes• Normal melanocyte count• Darkens with sun exposure
Lentigo • Linear melanocytic hyperplasia (non-nested)• Does not darken with sun• Hyperpigmented basal layer
Junctional Nevus • Nests at dermoepidermal junction (tips of rete ridges)• Small, flat, symmetrical lesion
Compound Nevus • Nests in both epidermis & dermis• Dome-shaped, raised, uniform pigmentation
Intradermal Nevus • Nests limited to dermis• Raised or papillomatous surface
Congenital Nevus • Deep dermal and subcutaneous involvement• May extend to septa of fat• ↑ Melanoma risk if large
• Dermal infiltration of dendritic, heavily pigmented nevus cells• Deep blue-black hue• Fibrosis often
Blue Nevus
present
Spitz Nevus • Spindle & epithelioid nevus cells• Children• Vesicular nuclei, eosinophilic cytoplasm
Halo Nevus • Central nevus with lymphocytic infiltrate• Surrounding hypopigmented halo• Pigment incontinence
Dysplastic Nevus • Atypia in junctional nests• Cytologic atypia + lamellar dermal fibrosis• Asymmetry• ↑ melanoma risk
• Large melanocytes, irregular nuclei, clumped chromatin• Breslow depth, mitotic index, ulceration →
Melanoma
prognosis• Radial → vertical growth progression
Seborrheic Keratosis • “Stuck on” lesion• Horn cysts (keratin-filled cysts)• Hyperkeratosis, acanthosis
Acanthosis Nigricans • Hyperkeratosis, papillomatosis• Epidermal thickening• Associated with insulin resistance or GI malignancy
Epithelial Inclusion Cyst • Lined by squamous epithelium• Filled with keratinous debris
Disease Pathologic Key Features
Fibroepithelial Polyp (Skin
• Fibrovascular core with loose collagen• Covered by benign squamous epithelium
Tag)
Actinic Keratosis • Atypical keratinocytes in basal layers• Parakeratosis• May progress to SCC
Squamous Cell Carcinoma
• Atypical squamous cells, keratin pearls• Invasive through basement membrane
(SCC)
Basal Cell Carcinoma (BCC) • Basaloid cells with peripheral palisading• Clefting artifact between tumor and stroma• Pearly papules
Dermatofibroma • Benign spindle cell proliferation• Epidermal hyperplasia• Factor XIIIa-positive
Dermatofibrosarcoma
• Storiform pattern• Infiltrates subcutis in "swiss cheese" manner• COL1A1-PDGFB fusion
Protuberans (DFSP)
Mycosis Fungoides • Epidermotropism of CD4+ T cells• Pautrier microabscesses• Plaques & tumors
Mastocytosis • ↑ Mast cells in dermis• Darier sign: urticaria with rubbing• Giemsa: metachromatic granules
Ichthyosis • Thickened stratum corneum• Loss of basket-weave pattern• Little to no inflammation
Urticaria (Hives) • Dermal edema• Dilated lymphatics & vessels• Sparse perivascular infiltrate
Eczematous Dermatitis • Spongiosis (intercellular edema)• Intraepidermal vesicles• Lymphocytic infiltrate
Erythema Multiforme • Interface dermatitis• Necrotic keratinocytes• Targetoid lesions clinically
Psoriasis • Acanthosis with elongated rete ridges• Parakeratosis, neutrophils (Munro abscesses)• Auspitz sign
Seborrheic Dermatitis • Parakeratosis, follicular lipping• Spongiosis or acanthosis• Affects sebaceous-rich areas
Lichen Planus • Saw-tooth rete ridges• Civatte bodies• Interface dermatitis with band-like lymphocytes
Pemphigus Vulgaris • Suprabasal acantholysis• "Tombstone" basal cells• IgG against Dsg3 (and Dsg1)
Pemphigus Foliaceus • Subcorneal acantholysis• IgG against Dsg1• No mucosal involvement
Bullous Pemphigoid • Subepidermal blister• Linear IgG & C3 at basement membrane• Eosinophilic infiltrate
Dermatitis Herpetiformis • Subepidermal vesicles• Neutrophils at dermal papillae tips• Granular IgA at BMZ
• Level of blistering varies by type:Simplex: intraepidermalJunctional: lamina lucidaDystrophic: below BM
Epidermolysis Bullosa
(COL7A1)
Porphyria Cutanea Tarda • Subepidermal blister• Festooning of dermal papillae• Little inflammation• PAS-positive material
Acne Vulgaris • Follicular hyperkeratinization• Sebum, Propionibacterium acnes• Neutrophilic infiltrate
Rosacea • Telangiectasia, sebaceous hyperplasia• Perifollicular inflammation• Papulopustules
Erythema Nodosum • Septal panniculitis• No vasculitis• Mixed inflammation (lymphocytes, histiocytes, giant cells)
Erythema Induratum • Lobular panniculitis• Necrotizing vasculitis• Granulomatous inflammation (TB association)
Verruca (Warts) • Hyperkeratosis, papillomatosis• Koilocytosis (perinuclear halo)• Caused by HPV
Molluscum Contagiosum • Molluscum bodies (cytoplasmic inclusions)• In stratum granulosum and corneum• Poxvirus etiology
• Dermatophytes in stratum corneum• Intraepidermal neutrophils• KOH mount for diagnosis• PAS/silver
Superficial Fungal Infections
stain for hyphae
BONES
Disease / Tumor Pathology Key Points for Diagnosis
• Localized defect in mesenchymal migration or condensation• Aplasia, supernumerary bones, or abnormal
Dysostosis
fusions (e.g., syndactyly)• Often due to HOX gene mutations
• Global disorganization of bone/cartilage• Gene mutations affecting development/remodeling (e.g., FGFR3,
Dysplasia
COL1A1)• Not neoplastic
• FGFR3 gain-of-function → suppressed cartilage growth• Short limbs, normal trunk• Disorganized growth
Achondroplasia
plate
Thanatophoric Dysplasia • Severe FGFR3 mutation• Micromelia, frontal bossing, bell-shaped abdomen• Lethal perinatal dwarfism
Osteogenesis Imperfecta • Defective Type I collagen• Blue sclerae, brittle bones, hearing loss• Few trabeculae, thin cortices
• Defective osteoclast function → dense but brittle bones• Chalk-stick fractures• No marrow cavities; cranial
Osteopetrosis
nerve impingement
Osteoid Osteoma • <2 cm, nocturnal pain relieved by NSAIDs• Cortical nidus of woven bone rimmed by osteoblasts
Osteoblastoma • >2 cm, spinal involvement• Pain not relieved by NSAIDs• Similar histology to osteoid osteoma
• Malignant osteoblasts producing osteoid• Codman triangle, sunburst pattern• Highly pleomorphic cells
Osteosarcoma
with mitoses
• Cartilage-capped bony outgrowth near growth plate• EXT1/EXT2 gene loss• Histology: benign cartilage
Osteochondroma
cap
• Benign hyaline cartilage tumor (enchondroma)• IDH1/IDH2 mutations• Medullary or juxtacortical;
Chondroma
hands/feet
• Malignant cartilage-producing tumor• Clear cell and mesenchymal types (young); conventional type
Chondrosarcoma
(older)• Myxoid matrix, infiltrative, necrosis
Disease / Tumor Pathology Key Points for Diagnosis
• Small round blue cell tumor• t(11;22) → EWSR1-FLI1 fusion• Diaphyseal lesion with onion-skin periosteal
Ewing Sarcoma
reaction
Giant Cell Tumor • Multinucleated osteoclast-like giant cells• Benign but locally aggressive• RANKL overexpression
Aneurysmal Bone Cyst • Blood-filled cystic spaces• Often associated with GCT• Expansile lytic lesion in adolescents
• Degenerative cartilage loss with eburnation• Heberden (DIP) and Bouchard (PIP) nodes• Fibrillation and
Osteoarthritis
vertical clefts in cartilage
• Autoimmune CD4+ T-cell mediated synovitis• Pannus formation, joint destruction• RF and anti-CCP
Rheumatoid Arthritis
positive
Gout • MSU crystal deposition• Needle-shaped crystals; negatively birefringent• Tophi and joint erosions
Calcium Pyrophosphate
• Rhomboid crystals; positively birefringent• Chondrocalcinosis• Affects knees, wrists
Deposition (CPPD)
Ganglion Cyst / Synovial Cyst • Myxoid degeneration without synovial lining• Common in wrists (ganglion), popliteal (Baker's) cyst
Tenosynovial Giant Cell Tumor • t(1;2) fusion → M-CSF overexpression• Villonodular synovial proliferation• Hemosiderin, multinucleated
(PVNS) giant cells
Lipoma • Most common soft tissue tumor• Well-encapsulated, mature adipocytes
• Malignant adipocytic tumor• Types: well-diff (MDM2), myxoid (t12;16), pleomorphic (complex karyotype)•
Liposarcoma
Lipoblasts diagnostic
• Rapid-growing, benign fibroblastic tumor• t(17;22) → MYH9-USP6 fusion• Myxoid stroma, RBC
Nodular Fasciitis
extravasation
Fibromatoses • Superficial (e.g., palmar), deep (desmoid)• Infiltrative, bland spindle cells• β-catenin or APC mutations
• Skeletal muscle malignancy in kids• Embryonal (botryoid), alveolar (t(2;13)), pleomorphic types•
Rhabdomyosarcoma
Myogenin, desmin positive
Leiomyoma • Benign smooth muscle tumor• Intersecting fascicles, cigar-shaped nuclei• Uterine, cutaneous (pilar)
• Malignant spindle cells with eosinophilic cytoplasm• Retroperitoneum, deep soft tissues• Marked atypia,
Leiomyosarcoma
mitoses
Synovial Sarcoma • t(X;18) → SS18-SSX fusion• Biphasic (spindle + epithelial) or monophasic• Calcifications, lung metastases
Undifferentiated Pleomorphic
• High-grade sarcoma with pleomorphic cells• Diagnosis of exclusion• Aggressive, necrotic, poor prognosis
Sarcoma (UPS)
PNS
Disease / Syndrome Pathologic & Diagnostic Key Features
• Acute autoimmune demyelinating polyradiculoneuropathy• Inflammation and segmental demyelination of
Guillain-Barré Syndrome
peripheral nerves• Ascending paralysis• Macrophage-mediated myelin damage• Perivenular and endoneurial
(GBS)
infiltrates (lymphocytes, plasma cells)• CSF: ↑ protein, normal cell count
Chronic Inflammatory
• Chronic counterpart of GBS• Onion bulb formation due to repeated demyelination-remyelination• Symmetric
Demyelinating
sensorimotor deficits• Responsive to steroids• Endoneurial inflammation with demyelination
Polyneuropathy (CIDP)
Systemic Autoimmune • Distal sensory or sensorimotor polyneuropathy• Lymphocytic infiltrates affecting nerve fibers• Diagnosis
Neuropathy (e.g., SLE, RA) relies on clinical correlation with autoimmune background
• Mononeuritis multiplex• Perivascular inflammatory infiltrates• Patchy axonal degeneration• Common in MPO-
Vasculitic Neuropathy
ANCA vasculitis
Leprosy (Mycobacterium • Segmental demyelination/remyelination• Schwann cell invasion in lepromatous form• Symmetric
leprae) polyneuropathy of cool areas (e.g., ears, fingers)• Prominent pain fiber loss
Lyme Disease (Borrelia • Neuropathy in 2nd–3rd stage• Bullseye rash (erythema migrans)• Inflammatory neuropathy from spirochete
burgdorferi) infection
• Mononeuritis multiplex• Distal painful sensory neuropathy in later stages• Immunologic basis (not direct viral
HIV Neuropathy
damage)
Diphtheritic Neuropathy • Toxin-mediated nerve dysfunction• Bulbar and respiratory paralysis• Peripheral demyelination
Varicella-Zoster Virus • Reactivation of latent virus in DRG• Painful vesicular rash along dermatomes• Axonal degeneration from
(Shingles) dead sensory neurons
Disease / Syndrome Pathologic & Diagnostic Key Features
• Axonal neuropathy with myelin degeneration• Distal symmetric sensorimotor polyneuropathy• Autonomic
Diabetic Neuropathy
dysfunction: postural hypotension, bladder/bowel issues
• Axonal degeneration with secondary demyelination• Common in chronic kidney disease• Improves with
Uremic Neuropathy
dialysis
Thyroid Dysfunction
• Hypothyroidism: carpal tunnel, distal neuropathy• Hyperthyroidism: rare GBS-like picture
Neuropathy
Vitamin Deficiency • B12: Subacute combined degeneration (spinal cord tracts)• B1, B6, folate, copper, zinc → sensory/motor
Neuropathy neuropathies
Toxic Neuropathy • Causes: Alcohol, heavy metals, chemo (e.g., vincristine, cisplatin)• Histologic: Axonal degeneration
• Mononeuropathies, plexopathies, or sensory neuropathies• Common with small cell lung cancer or POEMS
Paraneoplastic Neuropathy
syndrome• Paraprotein deposition in nerves
• Benign, encapsulated• Antoni A (dense) and Antoni B (loose) areas• Verocay bodies (nuclear palisading)•
Schwannoma
S100 positive
• Unencapsulated• Mixed Schwann cells, fibroblasts, mast cells• Can be localized, diffuse, or plexiform (the
Neurofibroma
latter pathognomonic for NF1)
Malignant Peripheral
• Poorly defined, infiltrative• Spindle cells, high-grade pleomorphism• “Divergent differentiation” e.g.,
Nerve Sheath Tumor
rhabdomyosarcomatous areas
(MPNST)
Neurofibromatosis Type 1 • AD mutation in NF1 gene (17q11.2)• Café-au-lait spots, Lisch nodules, plexiform neurofibromas• ↑ risk for
(NF1) MPNSTs, gliomas
Neurofibromatosis Type 2 • AD mutation in NF2 gene (22q12), affects merlin• Bilateral vestibular schwannomas• Multiple meningiomas,
(NF2) spinal ependymomas• Cataracts, skin nodules
CNS
Microscopic Etiology / Risk
Disease / Condition Pathology Gross Findings Diagnostic Pearls
Features Factors
Eosinophilic
Acute Neuronal Injury Hypoxic/ischemic Seen in early
None specific cytoplasm, Ischemia, trauma
("Red Neurons") insult infarction
pyknotic nuclei
Vasogenic vs Cytotoxic Flattened gyri, Astrocytic swelling Trauma, infarction,
Cerebral Edema Risk of herniation
edema narrowed sulci in cytotoxic type tumors
Congenital Noncommunicating
Hydrocephalus CSF accumulation Dilated ventricles Depends on cause aqueductal vs communicating
stenosis, tumors types
Duret Hemorrhagic
Uncal, subfalcine,
Herniation Syndromes Brain shift due to ↑ICP hemorrhages midbrain pons Mass effect, edema
tonsillar types
(transtentorial) lesions
Failure of anterior Incompatible with
Anencephaly Absent brain/skull Open cranial vault Folic acid deficiency
neural tube closure life
Herniation of
Lumbar-sacral Exposed neural Often with Arnold-
Myelomeningocele meninges + spinal Folic acid deficiency
protrusion tissue Chiari II
cord
Microencephaly Small brain Reduced weight Simplified gyral Zika virus, Severe intellectual
and volume pattern chromosomal disability
Microscopic Etiology / Risk
Disease / Condition Pathology Gross Findings Diagnostic Pearls
Features Factors
anomalies
Thickened cortex, LIS1 mutation, Failure of neuronal
Lissencephaly Smooth brain surface Absence of gyri
lack of layering others migration
Shallow sulci,
Irregular cortical Ischemic insult, Cortical seizure
Polymicrogyria Too many small gyri abnormal
surface congenital disorder
lamination
Normal neurons in X-linked, FLNA Seizures, cortical
Neuronal Heterotopia Misplaced neurons Nodular lesions
white matter mutation development error
Failure of midline Single forebrain Fusion of basal Trisomy 13, Sonic Cyclopia, facial
Holoprosencephaly
forebrain division ventricle ganglia Hedgehog gene anomalies
May be
Agenesis of Corpus Absent corpus "Bat-wing" lateral
No callosal fibers Genetic syndromes asymptomatic or
Callosum callosum ventricles
cause delay
Small posterior fossa Hydrocephalus,
Chiari II (Arnold- Herniation of Kinked cord, Often with
+ brainstem lower cranial nerve
Chiari) vermis + medulla syringomyelia myelomeningocele
elongation palsies
Congenital,
Tonsillar descent Adolescent
Chiari I Low cerebellar tonsil Normal brainstem asymptomatic or
≥5mm headaches
H/A
Cystic 4th
Dandy-Walker Absent cerebellar ventricle, Hypoplasia of Congenital Delayed milestones,
Malformation vermis enlarged posterior cerebellum malformations hydrocephalus
fossa
Cerebellar vermis “Molar tooth” Abnormal axonal Hypotonia, eye
Joubert Syndrome AR; ciliopathy
hypoplasia midbrain decussation movement disorders
Syringomyelia / Cavitation of spinal Disruption of Dissociated sensory
Fluid-filled cavity Chiari I, trauma
Hydromyelia cord crossing ST fibers loss (cape-like)
Perinatal Brain Injury
White matter necrosis Cystic lesions near Necrosis, Prematurity,
(Periventricular Cerebral palsy risk
in preemies ventricles mineralization ischemia
Leukomalacia)
Transient traumatic No macroscopic Reversible axonal No structural
Concussion Blunt trauma
dysfunction lesion stretching damage on imaging
Petechial
Axonal retraction High-velocity Coma, persistent
Diffuse Axonal Injury Axonal shearing hemorrhages
balls (β-APP+) trauma vegetative state
(corpus callosum)
Microscopic Etiology / Risk
Disease / Condition Pathology Gross Findings Diagnostic Pearls
Features Factors
Wedge-shaped Neuronal injury, Coup or contrecoup May mimic infarct
Cerebral Contusion Direct brain trauma
hemorrhagic area edema, necrosis injury but with trauma hx
Hemorrhage Lucid interval
Lens-shaped Middle meningeal
Epidural Hematoma Arterial hemorrhage between dura and followed by
(biconvex) bleed artery injury
skull deterioration
Old: granulation
Venous bleed Crescentic Elderly, shaken Slow progression,
Subdural Hematoma tissue,
(bridging veins) hemorrhage babies may rebleed
neomembranes
Softened brain,
Global Cerebral Hypoxic-ischemic Red neurons, Hypotension, Watershed infarcts
boundary zone
Ischemia encephalopathy laminar necrosis cardiac arrest in ACA-MCA zones
infarcts
Focal Cerebral Wedge-shaped Coagulative Thromboembolism Time-dependent
Vessel occlusion
Ischemia infarct necrosis → gliosis (MCA) histology
<15 mm cavity
Lipohyalinosis, Chronic Often silent, seen on
Lacunar Infarcts Small deep infarcts (basal ganglia,
arteriolosclerosis hypertension imaging
pons)
Subcortical ischemic White matter Myelin loss, axon Chronic Slowly progressive
Binswanger Disease
leukoencephalopathy atrophy sparing hypertension dementia
Multiple infarcts → Atrophy, multiple Atherosclerosis, Stepwise decline in
Vascular Dementia Mixed pathologies
cognitive loss infarcts emboli, HTN cognition

Disease / Infection Pathology Gross / Microscopic Diagnostic Clues Risk Factors


Purulent exudate;
Cloudy CSF, ↓glucose, Age-specific organisms (e.g.,
Acute Bacterial Meningitis Pyogenic leptomeningitis neutrophils in
↑protein, ↑neutrophils GBS, N. meningitidis, S. pneumo)
subarachnoid space
Viral meningeal Clear CSF, lymphocytic Enteroviruses (80%), arboviruses,
Acute Aseptic Meningitis Normal glucose, ↑protein
inflammation pleocytosis HSV
Focal liquefactive Ring-enhancing lesion, Predisposing: CHD,
Brain Abscess Strep, Staph spp.
necrosis granulation tissue, edema endocarditis, sinusitis
No arachnoid involvement; Source: sinuses/skull
Subdural Empyema Pus in subdural space Bacterial, rarely fungal
thickened dura infection
Extradural Abscess Localized purulence May compress cord Often spinal origin or Osteomyelitis association
Disease / Infection Pathology Gross / Microscopic Diagnostic Clues Risk Factors
outside dura sinusitis
Pale exudate at base, ↑Protein, ↓/normal
Tuberculous Meningitis Chronic basal meningitis Immunocompromised, lung TB
mononuclear infiltrates glucose, TB culture
3 patterns:
Tertiary syphilis CNS Argyll Robertson pupils,
Neurosyphilis meningovascular, paretic, Untreated syphilis, HIV
forms Charcot joints
tabes dorsalis
Focal microglial
Facial palsy, polyneuropathy,
Neuroborreliosis (Lyme) Borrelia CNS infection proliferation, rare Ixodes tick exposure
aseptic meningitis
spirochetes
Neuronophagia, microglial
Viral Meningoencephalitis Viral CNS inflammation Often lymphocytic CSF HSV, VZV, CMV, West Nile, etc.
nodules
Multifocal inflammation,
Generalized seizures, polio-
Arboviral Encephalitis Epidemic viral infection spinal involvement (West Mosquito/tick exposure
like syndrome
Nile)
Cowdry type A inclusions HSV-1 in adults, HSV-2 in
Herpes Simplex Encephalitis Temporal lobe necrosis Reactivation or perinatal
(HSV-1), hemorrhagic neonates
Dorsal root ganglia Perineuritis, dermatomal Shingles, postherpetic
VZV Reactivation Age >60, immunosuppression
latency lesions neuralgia
Inclusions, subependymal AIDS: radiculoneuritis; fetus: Immunocompromised,
CMV Encephalitis Ventriculoencephalitis
necrosis microcephaly congenital
Enterovirus spinal cord Neuronophagia in anterior
Poliomyelitis Flaccid paralysis, ↓reflexes Enterovirus D68 strain
attack horns
Negri bodies in
Hydrophobia, hyperactivity,
Rabies Severe encephalitis hippocampus and Animal bites
bite history
brainstem
HIV-Associated
Microglial nodules,
Neurocognitive Disorder HIV encephalitis Affects memory, mood AIDS, low CD4
multinucleated giant cells
(HAND)
Progressive Multifocal JC virus in Demyelination, enlarged White matter changes Immunosuppression
Disease / Infection Pathology Gross / Microscopic Diagnostic Clues Risk Factors
Leukoencephalopathy (PML) oligodendrocytes oligodendrocyte nuclei
Cryptococcus, Candida,
Chronic India Ink + (Cryptococcus), Chronic,
Fungal Meningoencephalitis Aspergillus, Mucor, endemic
meningoencephalitis granulomas immunocompromised
fungi
Brain abscess with Pseudocysts, ring-
Toxoplasmosis AIDS-defining infection Cat feces, undercooked meat
necrosis enhancing lesion
Perivascular amoeba
Amebic Meningoencephalitis Rapid necrosis Mimics macrophages Freshwater swimming
(Naegleria, Acanthamoeba)
Parasite-laden RBCs,
Cerebral Malaria Vascular blockage High fatality in children Plasmodium falciparum
petechial hemorrhages

Key Diagnostic /
Disease / Condition Pathology Gross & Micro Findings Remarks
Molecular Features
Autoimmune Gray plaques (gross), periventricular; Oligoclonal IgG bands in Relapsing-remitting, optic
Multiple Sclerosis
demyelination active plaques show foamy macrophages CSF, Th1/Th17 mediated neuritis common
Autoimmune vs Bilateral optic neuritis + spinal
Neuromyelitis Optica Necrosis, Ig & complement, eosinophils Anti-AQP4 antibodies
aquaporin-4 cord involvement
Diffuse demyelination (ADE), more Monophasic, similar-stage
ADE & ANHE Post-viral/infectious ANHE = Weston Hurst disease
severe necrosis (ANHE) lesions
Central Pontine Osmotic Myelin loss in central pons; axons Post-hyponatremia
Locked-in syndrome
Myelinolysis demyelination preserved correction
Diffuse Astrocytoma IDH mutation = better
Infiltrative glioma Diffuse, poorly defined mass May progress to GBM
(WHO II) prognosis
Anaplastic Astrocytoma Malignant
↑ Cellular, mitotic activity Often IDH mutated Precursor to GBM
(WHO III) astrocytoma
Glioblastoma (WHO IV) High-grade Necrosis + palisading, microvascular IDH-WT = primary (poor), Common in cerebral
Key Diagnostic /
Disease / Condition Pathology Gross & Micro Findings Remarks
Molecular Features
astrocytoma prolif. IDH-mut = secondary hemispheres
Pilocytic Astrocytoma
Benign astrocytoma Cystic + mural nodule; Rosenthal fibers BRAF-KIAA1549 fusion Kids; cerebellum/optic path
(WHO I)
IDH-mut + 1p/19q co-
Oligodendroglioma Infiltrating glioma “Fried egg” cells, chicken-wire vessels Best prognosis among gliomas
deletion
NF2 mutation in spinal
Ependymoma Ventricular tumor Perivascular pseudorosettes Posterior fossa in kids
type
Choroid Plexus Benign papillary Lateral ventricle (kids), 4th
Papillary + fibrovascular core None specific
Papilloma tumor (adults)
Choroid Plexus Malignant
Atypical cells, aggressive Rare Common in children
Carcinoma counterpart
Neuron-glial mixed
Ganglioglioma Large dysplastic neurons BRAF V600E mutation Epilepsy-related
tumor
Cortical Mucin-rich nodules, columnar
DNET None specific Benign, intractable epilepsy
glioneuronal tumor arrangement
Embryonal Small round blue cells, Homer-Wright SHH or WNT subtype, Ki- Radiosensitive; CSF drop mets
Medulloblastoma
cerebellar tumor rosettes 67 ↑ common
CD20+, PDL1+, EBV+
Primary CNS Lymphoma DLBCL, extranodal Diffuse infiltration of large lymphocytes Immunocompromised >60 y/o
(AIDS)
NF2 deletion (22q12),
Meningioma Dural-based tumor Whorls, psammoma bodies Progesterone-sensitive
TERT, CDKN2A
Secondary Lung, breast, kidney,
Metastatic Tumors Circumscribed, multiple lesions Site-specific histology
malignancies choriocarcinoma
Paraneoplastic CNS PCA-1 (Purkinje), anti-Hu, Limbic encephalitis, cerebellar
Immune-mediated Perivascular lymphocytes, gliosis
Syndrome VGCC Abs degeneration
NF1 Tumor syndrome Gliomas, Lisch nodules NF1 (17q11) Café-au-lait, neurofibromas
Bilat. vestibular schwannomas, Meningiomas, spinal cord
NF2 Tumor syndrome NF2 (22q12)
ependymomas lesions
Key Diagnostic /
Disease / Condition Pathology Gross & Micro Findings Remarks
Molecular Features
mTOR pathway TSC1 (9q34) / TSC2
Tuberous Sclerosis Cortical tubers, SEGA Seizures, autism
disorder (16p13)
Vascular tumor VHL gene (3p25.3) → RCC, pheochromocytoma co-
Von Hippel-Lindau Hemangioblastoma with clear cells
syndrome ↑VEGF occur

Microscopic / Histo
Disease / Condition Pathology Gross Findings Etiology / Risk Diagnostic Clues
Features
Senile plaques (β-
Cortical Cortical atrophy, amyloid), neurofibrillary ApoE4, age, Down Gradual dementia,
Alzheimer’s Disease
neurodegeneration widened sulci tangles (tau), Hirano syndrome memory loss
bodies
Lewy bodies (α-synuclein,
Basal ganglia SNCA mutation, MPTP Triad: bradykinesia,
Parkinson’s Disease Pale substantia nigra haloed), loss of pigmented
degeneration toxin rigidity, tremor
neurons
Caudate Caudate atrophy, Neuronal loss, gliosis in HTT gene (CAG repeats, Chorea, dementia, 15-
Huntington’s Disease
degeneration enlarged ventricles striatum AD) year course
Motor neuron
Thin anterior spinal degeneration, Bunina Muscle weakness,
ALS UMN + LMN loss Sporadic or familial
roots bodies, protein aggregates atrophy, fasciculations
(e.g., SOD1, C9orf72)
CJD (Spongiform) Prion-induced Atrophic brain Spongiform vacuoles, Prion ingestion, Rapid dementia,
encephalopathy neuronal loss, PrPSc sporadic, iatrogenic myoclonus, EEG:
aggregates periodic sharp waves
Mitochondrial Oxidative Variable Ragged red fibers mtDNA (maternal Leigh, MELAS
Microscopic / Histo
Disease / Condition Pathology Gross Findings Etiology / Risk Diagnostic Clues
Features
phosphorylation (muscle), necrosis, gliosis
Encephalomyopathy inheritance) syndromes
defect in CNS
GM2 ganglioside Lysosomal ballooning, Infants, seizures, no
Tay-Sachs Disease Macrocephaly HEXA mutation (AR)
accumulation cherry red spot hepatomegaly
Sphingomyelin Foamy Zebra bodies, lipid-laden SMPD1 or NPC1 Cherry red spot +
Niemann-Pick Disease
storage hepatosplenomegaly macrophages mutation organomegaly
Globoid cells (macrophage
Galactocerebrosidase Stiffness, rapid death
Krabbe Disease Myelin degradation White matter loss aggregates),
def. (AR) <2 yrs
oligodendrocyte loss
Metachromatic
Metachromatic Sulfatide Gray-white
macrophages (toluidine Arylsulfatase A def. (AR) Pediatric demyelination
Leukodystrophy accumulation demarcation loss
blue+), gliosis
Demyelination,
Symmetric white Boys: behavior change,
Adrenoleukodystrophy VLCFA accumulation lymphocytic infiltration, ABCD1 gene (X-linked)
matter loss adrenal insufficiency
adrenal atrophy
Wernicke-Korsakoff (B1 Mamillary body Necrosis, gliosis in 3rd/4th Alcoholism, Ophthalmoplegia,
Thiamine deficiency
Deficiency) hemorrhage ventricle walls malnutrition ataxia, confabulation
Myelin vacuolation,
Subacute spinal Ataxia, paresthesia,
Vitamin B12 Deficiency None specific axonal loss in posterior & Pernicious anemia, diet
degeneration spastic paresis
lateral columns
Pseudolaminar necrosis, Reversible if early;
Hypoglycemia Energy depletion Cortical necrosis Insulin OD, starvation
Sommer sector loss resembles hypoxia
Hyperglycemia Osmotic brain injury Pallidal necrosis Minimal; may see edema DKA or HHS in diabetes Confusion → coma
Hepatic Encephalopathy Ammonia toxicity Minimal Alzheimer type II Liver failure Flapping tremor, coma
astrocytes (large pale
nuclei)
Pallidal necrosis, Hypoxia symptoms +
CO Poisoning Hypoxia from HbCO Cherry red skin (acute) CO exposure
demyelination CNS necrosis
Microscopic / Histo
Disease / Condition Pathology Gross Findings Etiology / Risk Diagnostic Clues
Features
Direct + nutritional Purkinje cell loss, Alcoholism, Gait disturbance, ataxia
Ethanol Toxicity Cerebellar atrophy
injury Bergmann gliosis malnutrition even sober
Radiation Therapy-induced Coagulative necrosis Delayed: papilledema,
White matter necrosis >10 Gy radiation
Encephalopathy necrosis (unusual in brain) confusion

EYES

Disease Information (from the file only) Disease Information (from the file only)
- Axial proptosis- Accumulation of extracellular Pleomorphic
- Lacrimal gland tumor- Encapsulated
Graves Disease matrix, fat, inflammatory cells- Involves rectus Adenoma
muscles Dermoid Cyst - Benign orbital lesion
- Lacrimal gland enlargement- Granulomas- Neurilemmoma - Orbital tumor
Sarcoidosis (Orbital) “Mutton-fat” keratic precipitates in uveitis- Non-Hodgkin - May involve entire orbit or specific
Candle wax drippings in retina Lymphoma compartments (e.g., lacrimal gland)
- IgG4-related- Lacrimal gland, muscles, Tenon - Obstructed sebaceous gland drainage-
Idiopathic Orbital Blepharitis
capsule involvement- Chronic inflammation, Superficial eyelid inflammation
Inflammation
fibrosis, eosinophils - Blocked Meibomian gland- Lipogranuloma-
Granulomatosis with - Vasculitis, necrosis, collagen degeneration in Chalazion
Deeper eyelid inflammation
Polyangiitis orbit - Most common eyelid neoplasm- Palisading
Capillary - Infancy/childhood- Unencapsulated vascular Basal Cell Carcinoma cells, stromal clefts- Lower lid and medial
Hemangioma tumor canthus predilection
Lymphangioma - Unencapsulated orbital lesion Sebaceous Carcinoma - Spread via lacrimal drainage and
Cavernous nasopharynx- May mimic chalazion,
- Encapsulated- Found in adults
Hemangioma blepharitis- Multivacuolated cells, pagetoid
Disease Information (from the file only) Disease Information (from the file only)
spread- Metastasis to parotid and Keratitis hygiene
submandibular nodes Calcific Band - Calcium in Bowman’s layer- Seen in chronic
- AIDS-related- Purple eyelid lesion, red in Keratopathy uveitis
Kaposi Sarcoma
conjunctiva Actinic Band - UV-induced- Yellow/golden spherules under
Trachoma (Chlamydia Keratopathy epithelium
- Conjunctival scarring- “Boiled sago” follicles
trachomatis) - Bilateral- Associated with Marfan, Down
Ocular Cicatricial - Conjunctival scarring- Dry eye from goblet Keratoconus syndrome- Corneal thinning, conical shape-
Pemphigoid cell loss Histology: breaks in Bowman layer
- Submucosal elevation near limbus- Does not - Inherited- Loss of endothelial cells- Stromal
Pinguecula Fuchs Endothelial
cross cornea edema, bullous keratopathy- Guttata:
Dystrophy
- Submucosal fibrovascular tissue- Crosses excrescences on Descemet membrane
Pterygium limbus onto cornea- May cause mild - Lens opacity- Causes: age, DM, galactosemia,
astigmatism Cataract Wilson disease, steroids- Nuclear sclerosis:
Squamous Neoplasm - At limbus- Range from papilloma to brown lens, blue color distortion
(Conjunctiva) carcinoma- HPV 16, 18 associated - Impaired outflow despite open meshwork-
Open-Angle
Melanocytic - Nevus: benign with cysts- Melanoma: Chronic, idiopathic- Risk: age, family history,
Glaucoma
Neoplasm spreads to parotid/submandibular nodes- thin cornea, DM, HPN
(Conjunctiva) BRAF mutation in ~40% Angle-Closure - Hyperopia-associated- Pupillary block → iris
Scleritis - Blue sclera- Inflammation-related thinning Glaucoma (Primary) bombé- IOP rises rapidly
- High IOP- Blue sclera due to uveal tissue Angle-Closure - Neovascular membranes (e.g., diabetic
Staphyloma
lining ectatic area Glaucoma retinopathy)- VEGF-induced- Membranes
Osteogenesis (Secondary) contract → close angle
- Blue sclera due to defective collagen
Imperfecta - Intraocular inflammation- Keratic
Congenital Melanosis - Pigmented uvea- Blue sclera- Skin Endophthalmitis precipitates- Adhesions: anterior (glaucoma),
Oculi / Nevus of Ota pigmentation posterior (subcapsular cataract)
- Caused by bacteria, fungi, viruses, protozoa- Panophthalmitis - Involves retina, choroid, sclera, and orbit
Keratitis Corneal ulceration, hypopyon- Activation of Granulomatous - Mutton-fat keratic precipitates- Candle wax
collagenases Uveitis (Sarcoidosis) retinal appearance
Acanthamoeba - Associated with contact lens use- Poor Retinal Toxoplasmosis - Uveitis and scleritis- Common in AIDS
Disease Information (from the file only) Disease Information (from the file only)
- Bilateral granulomatous panuveitis- - Choroidal neovascularization- Leaks →
Sympathetic Wet AMD
Autoimmune after injury- Delayed-type scarring- Treat with anti-VEGF
Ophthalmia
hypersensitivity to retinal antigen - Inherited- Rod/cone loss- Night blindness,
Retinitis Pigmentosa
- Most common primary adult intraocular tunnel vision
Uveal Melanoma tumor- GNAQ, GNA11 (early), BAP1 (late)- - Retinal abscesses- Seen in IV drug use or
Candida Retinitis
Spreads to liver systemic infection
Rhegmatogenous - Retinal break- Fluid enters subretinal space- CMV Retinitis - In AIDS- Retinal necrosis
Retinal Detachment Medical emergency - Most common intraocular tumor in children-
Non- Retinoblastoma RB gene mutation- Leukocoria- Flexner-
- No break- Fluid from inflammation, tumors,
Rhegmatogenous Wintersteiner rosettes
HTN
Retinal Detachment - Older adults- Involves neurosensory retina
Retinal Lymphoma
- AV nicking, copper/silver wiring- Phases: and RPE- DLBCL type- Spreads via optic nerve
Hypertensive
vasoconstrictive, sclerotic, exudative- Cotton- Anterior Ischemic - Like optic nerve stroke- May be segmental or
Retinopathy
wool spots Optic Neuropathy complete infarction- Cause: vasculitis (e.g.,
Diabetic Retinopathy (AION) temporal arteritis)
- Microaneurysms- Macular edema- Exudates
(Non-Proliferative) - Bilateral optic disc swelling- Due to ↑ICP or
Diabetic Retinopathy - Retinal neovascularization- Risk of Papilledema local compression- Visual function initially
(Proliferative) hemorrhage preserved
- Premature infants on O₂- Ischemia → VEGF Glaucomatous Optic - Cupping and atrophy- Infant: buphthalmos,
Retinopathy of
→ neovascularization- Fibrosis → Nerve Damage megalocornea- Adult: staphyloma
Prematurity
macular/retinal displacement Leber Hereditary - Mitochondrial mutation- Young males-
Central Retinal Artery - Atherosclerosis, emboli- Pale retina- Cherry Optic Neuropathy Sudden vision loss
Occlusion red fovea - Demyelination- Often first MS symptom- May
Optic Neuritis
Central Retinal Vein - Ischemic: neovascular glaucoma- Non- recover
Occlusion ischemic: hemorrhages, exudates - End-stage eye- Small, disorganized, low IOP-
- Drusen on Bruch membrane- RPE atrophy- Phthisis Bulbi Causes: trauma, inflammation, chronic
Dry AMD
Central vision loss detachment

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