Clinical consultation Flashcards
What are the common causes of myelopathy?
- Trauma
- Degenerative
- MS/transverse myelitis
- Malignancy
- Hereditary (e.g. hereditary spastic paresis)
How do you interpret CSF samples in suspected meningitis?
What are some red flags for secondary causes of headaches?
- Age >50yrs old
- Focal neurology
- Confusion
- Being awoken by headache
- Signs of raised ICP (worse on coughing, changing position, coughing or sneezing)
What are the causes of clubbing?
Cardiac:
- Subacute endocarditis
- Cyanotic congenital heart disease
- Eisenmenger’s syndrome
Respiratory:
- Lung malignancy
- TB
- Bronchiectasis (including CF)
- ILD
Gastrointestinal/other:
- Inflammatory bowel disease
- Graves’ disease
What are the common caused of TIAs in young individuals?
- Carotid dissection due to trauma or hyperextension injury
- Vasculitis
- Drugs (cocaine, methamphetamines)
- Metabolic disorders
- Mitochondrial disorders (e.g. CADASIL)
- Sickle-cell disease
What are the common causes of bilateral visual loss?
Transient:
- Migraine
- TIA
- Idiopathic intracranial hypertension
Permanent:
- Glaucoma
- Cataracts
- Diabetic retinopathy
- Age-related macular degeneration
- Optic neuritis (e.g. MS)
- Retinitis pigmentosa
What are the common causes of night blindness?
- Myopia
- Cataracts
- Vitamin A deficiency
- Retinitis pigmentosa
What are the genetic conditions associated with retinitis pigmentosa?
- Bardet-Biedl syndrome
- Usher syndrome
- Alstrom syndrome
- Rufsum syndrome
- Kearns-Sayre syndrome
What is Bardet-Biedel syndrome?
Bardet-Biedl syndrome (BBS) is a rare genetic disorder that affects multiple organ systems. It is inherited in an autosomal recessive manner. Mutations in several BBS genes contribute to the disease, impacting cellular function.
Key Features
- Progressive vision loss due to cone-rod dystrophy
- Polydactyly (extra fingers or toes)
- Obesity, often developing in childhood
- Kidney abnormalities, which can lead to renal failure
- Learning difficulties and developmental delays
- Hypogonadism (reduced function of reproductive organs)
What is Usher syndrome?
Usher syndrome is a rare genetic disorder that affects both hearing and vision. It is inherited in an autosomal recessive manner.
Key Features
- Sensorineural hearing loss, which can range from mild to profound.
- Retinitis pigmentosa (RP), a progressive eye disease that leads to night blindness and tunnel vision.
- Balance issues, particularly in Usher syndrome types 1 and 3.
What is Alstrom syndrome?
Alström syndrome is a rare autosomal recessive genetic disorder that affects multiple organ systems. It is caused by mutations in the ALMS1 gene, which plays a role in cellular function, particularly in cilia. The condition leads to progressive multi-organ dysfunction, often beginning in infancy.
Key Features
- Vision loss due to cone-rod dystrophy, leading to blindness.
- Sensorineural hearing loss, which worsens over time.
- Childhood obesity and insulin resistance, often progressing to type 2 diabetes.
- Cardiomyopathy, which can cause heart failure.
- Kidney and liver dysfunction, increasing the risk of organ failure.
- Endocrine abnormalities, including hypothyroidism and reproductive issues.
- Developmental delays in some individuals.
What is Refsum syndrome?
Refsum syndrome, also known as Refsum disease, is a rare genetic metabolic disorder that leads to the accumulation of phytanic acid in the body due to impaired breakdown. It is caused by mutations in the PHYH or PEX7 genes, which affect peroxisomal function.
Key Features
- Retinitis pigmentosa, leading to progressive vision loss.
- Peripheral neuropathy, causing weakness and numbness in the limbs.
- Hearing loss and anosmia (loss of smell).
- Cerebellar ataxia, resulting in coordination difficulties.
- Ichthyosis, a skin condition causing dryness and scaling.
- Shortened bones in the hands and feet.
What is Kearns-Sayre syndrome?
Kearns-Sayre syndrome (KSS) is a rare mitochondrial disorder that primarily affects the eyes, muscles, and heart. It is caused by deletions in mitochondrial DNA, leading to progressive neuromuscular dysfunction.
Key Features
- Progressive external ophthalmoplegia (PEO): Weakness in the eye muscles, causing difficulty in eye movement.
- Pigmentary retinopathy: A “salt-and-pepper” pigmentation in the retina, which can affect vision.
- Cardiac conduction defects, increasing the risk of arrhythmias.
- Cerebellar ataxia, leading to coordination difficulties.
- Elevated cerebrospinal fluid (CSF) protein levels.
What are some cardiac complications of rheumatoid arthritis?
- Ischaemic heart disease (RA as serious risk factor as type II DM)
- Constrictive ericarditis
- Pericardial effusion
What are some respiratory complications of rheumatoid arthritis?
- Pulmonary fibrosis (with NSIP pattern more common that UIP, affecting lower lobes mainly) – either due to the disease itself or as a side-effect of methotrexate therapy
- Bronchitis obliterans
- Organising pneumonia
- Caplan’s syndrome - massive fibrotic nodules with occupational coal dust exposure
What are some ocular complications of rheumatoid arthritis?
- Keratoconjunctivitis sicca (dry eye syndrome) – Most common eye-related complication of RA
- Episcleritis
- Scleritis
- Scleromalacia
What are some neurological complications of rheumatoid arthritis?
- Carpal tunnel syndrome
- Peripheral neuropathy
What are some renal complications of rheumatoid arthritis?
- Nephrotic syndrome
- Renal amyloidosis
What is Felty’s syndrome?
Characterized by splenomegaly and neutropenia in a patient with rheumatoid arthritis. Hypersplenism results in destruction of blood cells which classically results in neutropenia but can also cause pancytopenia
What are some X-ray changes associated with rheumatoid arthritis?
- Soft tissue swelling
- Juxta-articular osteopenia
- Loss of joint space
- Joint subluxation
- Periarticular erosion
