Session 02: Final MBBS Examination In Paediatrics Flashcards
Long QT Syndrome
LQT1: KCNQ1 gene mutation
LQT2: KCNH2 gene mutation
LQT3: SCN5A gene mutation
LQT4 to LQT13: <10% of cases
Jervell and Lange-Nielsen syndrome:
- AR trait
- KCNQ1 homozygous mutation
- Sensorineural deafness
Treatment:
1. Beta blockers
- i.e. nadolol and propranolol
- Mexiletine
- In combination with beta blockers might help shorten QT interval
- Often used for the 3rd most common subtype of inherited long QT syndrome, but it may also be used for other subtypes - Spironolactone and potassium
- For certain forms of long QT, might improve the heart’s recharging system - Left cardiac sympathetic denervation surgery
- ICD
Primary immunodeficiency: Pattern of infection
T cell: Fungal, Viral
B cell: Bacteria (Pneumonia, GE)
Phagocytes: Skin abscess
Complement: Encapsulated bacteria
Tuberous Sclerosis Complex
Diagnosis:
- Definite TSC: 2 major / 1 major + 2 minor / Positive genetic testing
- Probable TSC: 1 major + 1 minor
- Possible TSC: 1 major/ >=2 minor features
Major features:
- Facial angiofibromas or forehead plaque
- Nontraumatic ungual or periungual fibroma
- Hypomelanotic macules (>=3)
- Shagreen patch (connective tissue nevus)
- Multiple retinal nodular hamartomas
- Cortical tubers
- Subependymal nodule (SEN)
- Subependymal giant cell astrocytoma (SEGA)
- Cardiac rhabdomyoma
- Lymphangioleiomyomatosis (LAM)
- Renal angiomyolipoma
Minor features:
- Nonrenal hamartoma
- Retinal achromic patch
- “Confetti” skin lesions
- Multiple renal cysts
- Multiple, randomly distributed pits in dental enamel
- Hamartomatous rectal polyps
- Bone cysts
- Cerebral white matter radial migration lines
- Gingival fibromas
TSC: Hypomelanotic macules
- “Ash-leaf” macules, >=3
- Usually 0.5cm – 2cm
- Earliest visible sign
- Around 87 -100% of children with TSC
- Asymmetric distribution
- Especially on trunk and buttock
- Use of Wood’s lamp (ultraviolet 365nm) can reveal spots in fairskinned
- Melanocytes normal in number but less melanisation
TSC: Facial angiofibromas
- “Adenoma sebaceum”
- 70-80%, usually appear after 5 yrs
- Red to pink papules or nodules with no pustule
- Symmetrically butterfly distribution over centrofacial areas, esp. on the nasolabial folds, cheeks, and chin, spare the central upper lip
- Histologically, dermal fibrosis and capillary dilation, sebaceous glands are often atrophic
- Treatment with mTOR inhibitor —> Can be suppressed
TSC: Shagreen patch
- > =50%, usually after 10 yrs
- Mostly found on the dorsal body surfaces, esp. the lumbosacral area
- A flattened, slightly elevated surface with a rough texture resembling an orange peel
- Connective tissue hamartoma composed of various amounts of various tissues without increased vascularity
TSC: Fibrous facial plaques
- ~ Shagreen patch on forehead
- Large flesh-colored lesions
- Around 36% of children with TSC
- Typically on forehead and scalp
- Can appear in newborn + develop slowly over several years
TSC: Periungual + Subungual fibroma
- Arising from proximal nail bed and under the nail plate
- 15 -52% of TSC patients
- Usually appears after 2nd decade of life, rarely before 5 yrs
- Toes > fingers
- May be the only presentation in some TSC patients
TSC: Dental pits + Gingival fibromas
- Fibrous nodular growth
- May associate with anticonvulsants use
- Adult 70%
- Children with mixed dentition 50%
- Children with deciduous teeth 3%
- Coexist with dental pits (>10) should suspect TSC
TSC: Ophthalmologic manifestation
Retinal Lesions:
- Achromic patch: Flat, smooth, non-calcified translucent gray lesion
- Hamartomas: Elevated, calcified mulberry like lesion
- Rarely cause visual loss
TSC: Brain abnormalities
- Cortical Tubers (88%)
- Seizures / Behavioral Problems - Subependymal Nodules (SENS) (95-98%)
- Subependymal Giant Cell Astrocytoma (SEGA) (5-20%)
- Hydrocephalus —> Brain damage
