13 Jan 24 Flashcards
Causes of Glaucoma in babies
Optic neuropathy with Inc IOP
Impaired drainage of IOF
Angle dysgenesis
Sturge Weber syndrome
Tumor trauma infection
Steroid induced
Symptoms of glaucoma in babies
Tearing , photophobia , blepharospasm
Enlarged cornea and globe
Optic nerve cupping
Tonometry: inc IOP
Ttt of glaucoma
Surgery
Pressure reducing eye drops
Cause of glaucoma in sturge weber
Anterior chamber angle anomaly
Increased episcleral venous pressure (from episcleral hemangioma)
Sturge weber C/F
Stain portwine , sporadic
Tram track calcification in opposing gyri
U/L
Retardation
Glaucoma GNAQ mutation
Episcleral hemangioma , epilepsy
Tuberous Sclerosis complex C/F
HAMARTOMAS
Hamartomas skin and CNS
Angiofibroma in malar area
Mitral Regurg
Ashleaf spots
Rhabdomyoma heart
Tuberous Sc
Mental retad
Angiomyolipoma kidney
Shagreen patches / seizures(infantilespasm)
Subependymal giant cell tumors
Nevus flammeus /port wine CF
🧔🏻♀️Doesnt regress
🧔🏻♀️ respect midline
Nevus simplex
Blanching
Regress with time
Involve eyelids , glabella , nape of neck
Hemangioma c/F in baby face lesion
Red raised plaque
Undergoes proliferation and then involution
Neurological features of Sturge weber
Seizures
Intellectual dysability
Glaucoma
Homonymous hemianopia (if vascular malformation is in occipital lobe)
Dx of sturge weber
MRI with contrast showing
vascular malformation (enlarged choroid plexus enlargement )
Leptomeningeal enhancement (venous congestion from capillary malformation)
Cerebral palsy features
Early signs:
Motor delay( not rolling over at 4 months)
Early hand preference (< 1year)
Persistent neonatal reflexes
(Tonic neck reflex at age >6mo)
Abnormal tone (initially hypotonic later spastic)
Hyperreflexia and clonus
Spastic diplegia (B/L lower limn hypertonicity) common CP subtype
Spastic hemiplegia (one side of body affected )
MRI finding in CP
MRI shows
👩🏻🦰white matter injury adj to lateral ventricles (periventricular leukomalacia)
PVL;
Focal cystic white matter necrosis
Diffuse periventricular white matter injury
👩🏻🦰Intraventricular hemmorhage in lateral ventricles due to friable germinal matrix (common with prematurity)
Causes of CP
Non progressive neurologic injury
👧🏼 prematurity /low birth weight
Mri; periventricular leukomalacia
Intraventricukar hemm
👧🏼hypoxic ischemic injury
Mri : watershed injury
Basal ganglia / thalamic lesions
👧🏼Perinatal stroke
👧🏼Intrauterine infection (CMV, Toxoplasmosis )
Mri : calcifications
S/S vary depending on severity
Lesch Nyhan CF
🧠 delayed milestones and hypotonia
🧠 early childhood;
🚨Intellectual disability
🚨Extrapyramidal S/S dystonia , chorea
🚨Pyramidal S/S spasticity, hyperreflexia
🚨Self mutilation
🧠 Gouty arthritis in late untreated dx
▶️ confused with CP but self mutilation makes CP unlikely
Lesch nyhan dx mechanism
X linked recessive
Def of HGPRT enzyme
Leads to accumulation of uric acid in serum urine and CNS.
Cardinal features are self mutilation and gouty arthritis
Myotonic Dystrophy CF
Production of mutant RNA alters function of genes in
SKELETAL muscles: weakness pain in facial muscles (problem with smiling and frowning) , distal limb , eye (ptosis) temporal wasting and smaciated extremities. GI muscles: dysphagia , constipation Heart: CMP , conduction disturbances MYOTONIA: delay in muscle relaxation (grip myotonia , percussion myotonia)
Non muscular CF:
testicular atrophy , cataracts , insulin resistance, daytime somnolence
Myotonic dystrophy genetics
Autosomal dominant
CTG repeats in DMPK gene
Cephalhematoma CF
Blood collecting between skull and periosteum (subperiosteal)
Well demarcated
Does not cross suture lines
Forceps/vacuum delivery
Overlying skin normal
Resorb spontaneously
Cephalhematoma consequences
Hyperbilirubinemia
Resorbs in 1 month
Caput succedaneum CF
Benign
Superficial swelling to periosteum and galea aponeurotica (subcutaneous)
Boggy
Poorly demarcated edema/bleed
Crosses suture lines
Overlying skin normal
Self resolves
Subgaleal hemorrhage CF
Potentially fatal neonatal injury
Rupture of emissary vessels on scalp traction
Massive blood accumulation between periosteum and galea appneurotica
Diffuse fluctuant scalp swelling
Extends beyond suture lines
Signs of blood loss pallor anemia tachy
Expands in 2-3 days
Intraventricular hemmorrhage mech
Premature▶️ germinal matrix highly vascularized fragile part of brain in perivent area during fetal dev. ➡️ premature babies lack supportive structure around matrix making thin walled cap prone to rupture.
GM involutes by 32 weeks so neonates born < 32 w are at risk.
Intraventricular hemmorhage CF
Develops at 3-4day
Mostly A/S
Bulging fontanel
Anemia
Apnea
Seizures
All neonates born<32w are screened with HEAD USG at 1-2w.
