DEMYELINATING DISEASES

 DEMYELINATING DISEASES    [j-04]

MULTIPLE SCLEROSIS-

• Autoimmune dis
• Relapsing-remitting
• Adolescence-mid age
• 2F=M

PATHOLOGY-

• Focal inflamn
• Demyelination & gliosis or scarring
• Lesions are disseminated thru out the brain,so also k/as Disseminated sclerosis
• Selective demyelination with relative sparing of axons-hallmark
• PLAQUES- multiple grayish,sclerotic lesions scattered in the white matter-periventricular
• Medullary sheaths of the nerve fibres are specially attacked,axons being spared

C/F- OCULAR

• Retrobulbar neuritis-Hemianopic & quadrantic field changes
• OA
• Retinal venous sheathing
• Nystagmus [very imp sign]-horizontal,ataxic &increases on extreme lat gaze
• RAPD
• EO ms paralysis
• INO
• VI n Palsy

SYSTEMIC-

• Limb weakness
• Sensory loss
• Paraesthesia
• Vertigo
• Ataxia
• Lhermitte sign-A transient electric shock like sensation shooting down the spine into the legs induced by neck flexion
• CHARCOT’S TRIAD-SIN
• slurred speech
• intention tremors
• nystagmus

INV-M 3V 4AE

1. MRI- head & spine-periventricular plaques
2. CT-scan-perivascular & deep white matter lesions
3. Serum vit B12 levels
4. VDRL
5. ESR
6. Antinuclear antibody
7. Anti-DNA antibodies
8. Angiotensin converting enzyme
9. VEP
10. Automated perimetry

T/T-PIIP

1. Pulse IV methylprednisolone
2. Interferon –B1a or IFN-B1b
3. IV immunoglobins
4. Physiotherapy

NEUROMYELITIS OPTICA [DEVIC’S DISEASE ] [J-03]

• variant of MS-acute & violent form
• BL optic neuritis + Transverse myelitis
• Lumbar /dorsal myelitis

ACUTE DISSEMINATED ENCEPHALOMYELITIS [ADEM]

Young adults

• Fever,headache,drowsiness & convulsions
• EYE- Retrobulbar neuritis

           -Papillitis

           -OA

DIFFUSE PERIAXIAL ENCEPHALITIS [SCHILDER’S DIS]

• infancy & childhood
• Massive demyelination in the cerebral & cerebellar hemisphere f/b gliosis
• Systemic –deafness,psychosis,aphasia,UMN palsy,ataxia
• OCULAR-OccIpital lobe lesion-LOV

                    -Brainstem lesion-nystagmus,ocular palsies & papillary def

• 
  

BEHCET’S DISEASE

             

                 BEHCET’S DISEASE [J-02]

• Idiopathic
• Recurrent
• Multisystem dis
• Young men
• HLA-B-5
• 3rd-4th decade

Presents with aphthous ulcer.

MAJOR diagnostic criteria-

1. RECURRENT APHTHOUS ULCER-

• Painful
• Shallow
• Yellowish necrotic base

2. SKIN LESIONS-

• Erythema nodosum
• Subcutaneous thrombophlebitis
• Papulo-vesicular-pustular rash
• PATHERGY TEST- on puncturing the skin with a needle, a pustule appears
• DERMATOGRAPHISM-on stroking the skin corresponding lines appear.

3. RECURRENT GENITAL ULCERATION-

Penis & scrotum- males

Labia & vagina- females

4. UVEITIS-Both ant & post

MINOR Diagnostic criteria-

1. ARTHRITIS- Knees, ankles, sacroiliac jts
2. EPIDIDYMITIS
3. INTESTINAL ULCERATION
4. VASCULAR- obliterative thrombophlebitis & aneurysm
5. CNS- Brainstem syn

           -Meningoencephalitis

Complete Behcet;s dis- All 4 MAJOR criteria

Incomplete Behcet’s dis-

• 3 MAJOR
• 2 MAJOR + 2minor
• Uveitis + 1 MAJOR
• Uveitis + 2 minor

OCULAR-

• Episcleritis
• Keratoconjunctivitis
• Recurrent acute iritis with hypopyon
• Chr iridocyclitis
• Edema- ret, disc, macula
• Retinitis
• Periphlebitis
• Vitritis
• OA

T/T – Steroids

• Immunosuppressants

     

VON HIPPEL LINDAU SYNDROME

 VON HIPPEL LINDAU SYN

[J-07, J-05]

• Gene- Chromosome 3
• Tumors-

-Haemangioblastoma- cerebellum, spinal cord, medulla ,pons

- Renal cell ca

-Phaeochromocytoma

• Cysts- Renal , pancreatic. Hepatic, epididymis, ovary, pulmonary
• Polycythaemia
• Ocular- Capillary haemangioma of retina / ONH →

 --Earliest lesion

--small ,red,orange –red tum with a prominent dilated feeding A & draining V

--Subretinal exud

--SRF

--Total RD

--Macular traction & ERM

INV-

1. CBC
2. Ser electrolytes
3. Urine levels of epinephrine & Norepinephrine
4. MRI brain
5. CT scan –abdo
6. IV fluorescein angio

    T/T-

1. Retinal capillary haemangioblastoma-

• Photocoagn
• Cryotherapy
• Diathermy
• Radiation therapy-plaque RT

                               - Proton beam irradiation

-  Microsurgical resection

-Enucleation ( blind painful eye)

TUBEROUS SCLEROSIS

     TUBEROUS SCLEROSIS

Also k/as- Bournville’s dis

AD

Triad -  Epilepsy

              - MR

              -Skin lesions- Adenoma sebaceum

                                  - Ash-leaf spots

                                  - Shagreen patch

                                  - Depigmented naevi

                                  - Fibroma molluscum

                                  -Fibrous plaques on forehead

                                  -Subungal hamartoma

- CNS- Ependymomas

         -Astrocytomas

-OCULAR-

*  Retinal astrocytomas-50%

# white semitransparent or mulberry appearing tum in the superficial retina.

*  Hypopigmented patches on iris & ret

*  Papilloedema & VI N palsy

INV- 

CBC

.CT and MRI-BRAIN

EEG

Echocardiography

X ray chest

CT scan –abdomen.

Rx-

Genetic councelling

Retinal astrocytomas require no t/t

 

OCULAR TUBERCULOSIS

    OCULAR  TUBERCULOSIS

DEF-

Chronic granulomatous infection caused by tubercle bacilli

• Mycobacterium bovis [ bovine]- by milk
• Mycobacterium tuberculosis [human]- droplet inf

MORPHOLOGY-

• Slender rods with branching filamentous forms
• Resemble fungal mycelium ,so k/as mycobact i.e fungus like bacteria
• Do not stain readily , but once stained resist decolourisation with dilute mineral acid – k/as Acid fast
• Aerobic
• Non-motile
• N0n-capsulated
• Non-sporing
• Slow growth

    PATHOGENESIS-

       Inhalation of aerosolized droplets→ Asymptomatic , self-limited pulmonary granuloma→ resolves & becomes dormant→ reactivates later→ disseminates to other organs.

OCULAR TB-

CONJ-

• Phlyctenular c’vitis- small, grey –yellow nodules on bulbar conj near limbus
• Prod refex lacrimation

CORNEA-

• Phlyctenular keratitis
• Fascicular ulcer-
• Phlyctenular ulcer migrates slowly from the limbus to the centre of the cor in a serpiginious way.
• It carries a leash of BVs  which lie in a shallow gutter formed by the ulcer.
• Superficial allergic type of ulcer
• Never perforates
• When the ulcer heals, the BVs attenuate with a dense cor opacity near the apex of the ulcer

UVEA-

• Tuberculous iritis

1. Metastatic [granulomatous]-

• Miliary-small ,yellowish white nodule surrounded by small

               Satellites near the pupillary or ciliary margin

• Conglomerate- Larger, yellowish white tumor

                          - smaller satellites may be present

                          - Nodules contain giant cells

2. Exudative [non-granulomatous]

• Tuberculous choroiditis-Tubercles

                                          -Tuberculomas

Tubercles-Post pole

              - Solitary/multiple

              -Multifocal

             -0.3-3mm dia

             -  Yellowish, grayish or white

             -overlying serous RD

Tuberculomas- Solitary

                      -Grayish white

                      -Raised

                      -2-3 DD

                      -Overlying exud RD

RETINA-

Eale’s disease [retinal periphlebitis]-

• recurrent VH
• young healthy adult males
• Periphlebitis→ intraretinal h’age→vascular tortuousity & collaterals→ NV

INV-

1. Sputum exam for AFB
2. Chest X-ray
3. Montoux test
4. Anticord factor antibody

T/T-

5 anti-TB drugs

1) ISONIAZID [H]- 5mg/kg

s/e – optic neuritis

• hepatitis

2) RIFAMPICIN [R]- 10mg/kg

S/E –Hepatitis

     -  Red –orange urine

3) STREPTOMYCIN [S]-15mg/kg

S/E- Ototoxic

• Nephrotoxic

  4) ETHAMBUTOL [E]- 20mg/kg

  S/E- ON

       -Red-green colour blindness

5. PYRAZINAMIDE [Z]-25mg/kg

    S/E –Hepatitis

          -Hyperuricemia

STURGE WEBER SYNDROME

STURGE WEBER SYNDROME-

• Encephalotrigeminal angiomatosis[ETA]
• Sporadic
• Trisystem- Face

                    - Leptomeninges

                    - Eyes

*  Bisystem- Face& Eyes

                           Or         

                 - Face & Leptomeninges

• Presents at birth.
• SIGNS-

A ) FACE-  Port wine stain-over the V N distribution

B) LEPTOMENINGES-

• Ipsilateral parietal / occipital leptomeningeal haemangioma→

                                                                 - Seizures

                                                                 - Hemiparesis

                                                                 -Hemianopia

- MR

C) EYES-

• Glaucoma [IL]
• Diffuse choroidal haemangioma
• IL Episcleral haemangioma
• Heterochromia iridis

   INV-

1. X-ray – “Tramline” cerebral calcification
2. CT scan & MRI- for haemangioma

   T/T-

1. Intractable seizures→ Subtotal Hemispherectomy
2. Portwine stain→ dermatological laser
3. Choroidal haemangioma-

• Photo- argon, xenon, krypton or dye laser
• TTT
• PDT
• Radiation therapy
• Enucleation

4. Glaucoma- Latanoprost 0.005% HS

                    - Goniotomy- For angle anomalies

                    - Trabeculotomy + Trabeculectomy→

                      Removes barrier to aq outflow