Kawasaki disease (Mucocutaneous lymph node syndrome)

13/01/2010

rare disease occurring in children.

affects many organs, including the skin, mucous membranes, lymph nodes and blood vessel walls.

Etiology:

autoimmune disorder

typically a pre-existing viral infection

Manifestation:

  1. rash
  2. fever
  3. swollen lymph nodes

Treatment:

  • immunoglobulins
  • corticosteroids


Multiple Sclerosis and Amyloid Lateral Sclerosis Comparison

11/12/2009

 

Feature Multiple Sclerosis Amyloid Lateral Sclerosis
Disease Affects motor and sensory neurons Affects motor neurons/ Sensory and cognition not affected
Incidence Higher in women Higher in men
Genetics Mutation in the MHC portions of chromosomes on the HLA regions of the genes Mutation of the SOD1 gene on chromosome 21
Pathophysiology Neural demylination and Death of oligodenrocytes producing myelin Superoxide dismutase gene that neutralizes harmful free radicals is mutated
Manifestations

Signs and Symptoms

Depends on the region and extent of neural demylination.

Paresthesia (burning, tingling sensation)

fatigue

decreased muscle strength and coordination

gait affected

visual impairment

bowel and bladder dysfunction

Weakness

fascication (muscle twitch)

muscle atrophy

dysphagia

dysarthria

Diagnostics MRI for plaques.

Assay for presence of protein in CSF

indiciative of:

  1. compromised blood brain barrier
  2. autoimmune damage occurance
  3. inflammatory processes

 

electromyography

Myasthenia gravis

30/11/2009

 

Three Types of Myasthenia gravis

  1. Ocular Myasthenia gravis

  • higher prevalence in males

  • muscle weakness confined to the eye

  1. Generalized Myasthenia gravis

  • affects the proximal musculature throughout the body with four different disease progressions

  1. a course with periodic remission

  2. a slow progression course

  3. a rapidly progressive course

  4. a fulminating course

  1. Bulbar myasthenia Myasthenia gravis

  • involves the muscles innervated by the cranial nerves IX, X, XI and XII

  • disease progression is typically rapid or fulminating

Manifestations

  • may present during pregnancy, post-partum or linked to the administration of some anesthetics

  • Fatigue after exercise

  • Hx of upper respiratory tract infections

  • muscles of eyes, face, mouth, throat and neck are affected first

Affected extraoccular muscles of the eye and levator muscles result in (Primarily):

  • diplopia

  • ptosis

  • ocular palsies

Affected muscles controlling facial expression, mastication, swallowing and speech result in (Secondary):

  • facial droop

  • no expressive ability

  • dysphagia

  • dysphasia

  • episodes of choking and aspiration

Muscles of neck, shoulder girdle, and hip girdle are less frequently affected resulting in:

  • pt experiences fatigue

  • periods of rest required

  • pt may have difficulty maintaining head position

  • muscles of diaphragm and chest wall become weakened

  • ventilation may be impaired

  • impairment of deep breathing and cough muscles predispose pt to atelectasis and congestion


Multiple Sclerosis (MS)

28/11/2009

Multiple sclerosis (MS) is a chronic condition that affects the central nervous system.

This system includes the brain and spinal cord. It contains the nerves that control everything your body does, such as thinking, feeling, seeing, smelling, tasting, and moving.

  • autoimmune based demylination in CNS
  • onset 20-40 yrs
  • incidence 2X higher in women than men

Etiology

  • unclear
  • HLA genes affected on MHC portion of the chromosome
  • familial tendency
  • genetic susceptibility of immune response on HLA gene
  • viral trigger (EBV) – Ab attack myelin

Pathophysiology

  • demylination in white matter
  • inflammation
  • edema
  • destructive plaque formation resulting in conductive disorders
  • plaque (sclerotic patches) show lymphocytes and macrophage infiltration
  • death of oligodendrocytes which produce myelin
  • motor and sensory neurons are affected

Manifestations

  • depend on location and extent symptoms vary
  • may be a chronic pattern of remission and relapse
  • paresthesia – burning, tingling in extremities of regions where myelin sheathing is being destroyed
  • fatigue
  • decreased muscle strength, gait and coordination

Symptoms

Diagnosis

proteins in CSF – indicative of:

  1. compromised blood brain barrier
  2. autoimmune damage is occurring
  3. inflammation is occurring in the CNS
  • MRI for plaques

Treatment

  • steroid use for acute phases after relapse
  • disease modification eg interferon to manage antiviral, anti-inflammatory and autoimmune

Martin, Glenn and Porth, Carol, Mattson. 2009. Pathophysiology Concepts of Altered Health States. 8th ed. Lippincott Williams and Wilkins. Philadelphia


Wiskott-Aldrich syndrome (WAS) or eczema-thrombocytopenia-immunodeficiency syndrome

02/11/2009

A rare X-linked recessive disease.

  • symptoms appear during first year of life.
  • abnormalities of humoral immunity begin within the first 6 months of life
  • leading to the inability to produce Antibodies to polysaccharide antigens causing susceptibility to encapsulated microbes
  • decreased serum IgM and increased serum IgA and IgE levels present
  • T-cell dysfunction is initially mild, yet progressively deteriorates.

Manifestation:

  • eczema
  • thrombocytopenia (bruising )
  • immune deficiency (recurrent infections)
  • bloody diarrhea (secondary to the thrombocytopenia).
  • predisposition to the development of certain cancers (Hodgkin lymphoma and leukemia)

Treatment:

  • eczema symptoms management
  • infection control
  • management of bleeding episodes with transfusions as necessary

Martin, Glenn and Porth, Carol, Mattson. 2009. Pathophysiology Concepts of Altered Health States. 8th ed. Lippincott Williams and Wilkins. Philadelphia


Guillain-Barre Syndrome (GBS)

03/09/2009

Guillain-Barre Syndrome (GBS) is an acute inflammatory demyelinating polyneuropathy (AIDP),

Etiology:

Guillain-Barre Syndrom is an autoimmune disorder affecting the peripheral nervous system

It is usually triggered by an acute infectious process.

Two-thirds of all cases occur after a viral infection.

Symptoms:

  • weakness
  • numbness
  • tingling
  • increased sensitivity that spreads over the body
  • Muscle paralysis that starts in the feet and legs and moves upwards to the arms and hands.
  • Guillain-Barré Sign –Plantar flexion and fanning of the toes when the heel is tapped, similar in meaning to Babinski sign. indicative of neurological damage.

Medical Neurological Glossary.  Guillain-Barre Syndrome. Retrieved September 3, 2009 from https://gardenrain.wordpress.com/wp-admin/post.php?action=edit&post=1319&message=1


Autoimmune Hepatitis

31/08/2009

Auto = Self

Hepa– = Refers to the liver

-itis = inflammation of

 

Etiology:

Autoimmune is caused by the body’s own immune cells attacking the liver. 

The more commonly known form of hepatitis is of pathological origin due to infection by the body with the a virus such as the Hepatitis C virus. 

  • This disorder is chronic
  • Causes cirrhosis (scarring and hardening) of the liver.
  • May lead to liver failure

Symptoms:

  • an enlarged liver
  • jaundice
  • itching
  • skin rashes
  • joint pain
  • abdominal discomfort
  • spider angiomas, or abnormal blood vessels, on the skin
  • nausea
  • vomiting
  • loss of appetite
  • dark urine
  • pale or gray-colored stools
  • Diagnosis:

    • Blood test to detect the presence of  liver enzymes in the blood
    • Blood test to detect the presence of autoantibodies

    Symptom Management/Treatment:

    • Corticosteroids
    • Immunosuppressants

    National Institue of Health. 2008. Autoimmune Hepatitis. Retrieved August 31, 2009 from http://digestive.niddk.nih.gov/ddiseases/pubs/autoimmunehep/