Syndromes

Question 1

What are the clinical diagnostic criteria for tuberous sclerosis?

Answer 1

2 major or 1 major and 2+ minor crieria.

ASHCLUE (11 major criteria)

Ash leaf (hypomelanotic) macules (>3, >5mm)

Angiofiromas

Angiomyolipomas

Subependymal giant cell astrosytoma

Subependymal nodules

Shagreen patch

Hamartomas

Heart: rhabdomyomas

Cortical dysplasia

Lymphangioleimyomatosis

Ungual firomas (>2)

Establish genetic diagnosis

MINDachromia (minor criteria)

Multiple renal cysts

Intraoral fibromas (>2)

Non-renal hamartomas

Dental enamel pits

achromia - retina/skin

Question 2

What screening tests are required for individuals with TS?

Answer 2

Guideline at TS Australia

• Offer genetic testing
• EEG if known or new seizures
• Screen for TAND symptoms
• Behavioural/intellectual and neuropsych review at least once in each key developmental stage.
• MRI brain 1-3 yearly.
• MRI abdomen 1-3 yearly.
• BP and eGFR yearly.
• Skin examination yearly.
• Bianual dental examination.
• Eye/visual examination yearly in those with known retinal lesions or new change in vision.
• ECHO in known rhabdomyoma every 1-3 years.
• ECG every 3-5 years.
• Over 18 female - screen for LAM symptoms each visit.
• HRCT every 5-10 years in >18y females.

Question 3

What are the diagnostic criteria for NF1?

Answer 3

2+ of the following:

Fibromatous tumours

Iris hamartomas (Leisch nodules)

Bone lesions - tibial pseudoarthroasis, sphenoid wing dysplasia.

Relative affected (1st degree)

Optic pathwa glioma

Macules (cafe aut lait) - 6 >5mm, >15mm in post-pubertal.

Axillary and inguninal freckling

Question 4

What surveillance is required in NF1?

Answer 4

Annual assessment.

• Development
• School progress
• Growth and pubertal development
• Cardiovascular examination - BP, pulm, stenosis
• Renal A. stenosis
• Visual assessment
• Examination of skin and spine

If HTN

• 24h urine for catecholamines and metabolites.

MRI

• Orbits for poor vision, proptosis, precocious puberty.
• Painful plexiform neuromas
• Brain for changing seizures, behavioural change or enlarging HC.
• Abdomen if HTN for phaeochromocytoma.