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Neurology > 13 Jan 24 > Flashcards

13 Jan 24 Flashcards

1
Q

Causes of Glaucoma in babies

A

Optic neuropathy with Inc IOP
Impaired drainage of IOF
Angle dysgenesis
Sturge Weber syndrome
Tumor trauma infection
Steroid induced

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2
Q

Symptoms of glaucoma in babies

A

Tearing , photophobia , blepharospasm
Enlarged cornea and globe
Optic nerve cupping
Tonometry: inc IOP

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3
Q

Ttt of glaucoma

A

Surgery
Pressure reducing eye drops

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4
Q

Cause of glaucoma in sturge weber

A

Anterior chamber angle anomaly

Increased episcleral venous pressure (from episcleral hemangioma)

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5
Q

Sturge weber C/F

A

Stain portwine , sporadic
Tram track calcification in opposing gyri
U/L
Retardation
Glaucoma GNAQ mutation
Episcleral hemangioma , epilepsy

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6
Q

Tuberous Sclerosis complex C/F

A

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

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7
Q

Nevus flammeus /port wine CF

A

🧔🏻‍♀️Doesnt regress
🧔🏻‍♀️ respect midline

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8
Q

Nevus simplex

A

Blanching
Regress with time
Involve eyelids , glabella , nape of neck

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9
Q

Hemangioma c/F in baby face lesion

A

Red raised plaque
Undergoes proliferation and then involution

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10
Q

Neurological features of Sturge weber

A

Seizures
Intellectual dysability
Glaucoma
Homonymous hemianopia (if vascular malformation is in occipital lobe)

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11
Q

Dx of sturge weber

A

MRI with contrast showing

vascular malformation (enlarged choroid plexus enlargement )

Leptomeningeal enhancement (venous congestion from capillary malformation)

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12
Q

Cerebral palsy features

A

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 )

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13
Q

MRI finding in CP

A

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)

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14
Q

Causes of CP

A

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

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15
Q

Lesch Nyhan CF

A

🧠 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

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16
Q

Lesch nyhan dx mechanism

A

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

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17
Q

Myotonic Dystrophy CF

A

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

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18
Q

Myotonic dystrophy genetics

A

Autosomal dominant

CTG repeats in DMPK gene

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19
Q

Cephalhematoma CF

A

Blood collecting between skull and periosteum (subperiosteal)

Well demarcated

Does not cross suture lines

Forceps/vacuum delivery

Overlying skin normal

Resorb spontaneously

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20
Q

Cephalhematoma consequences

A

Hyperbilirubinemia

Resorbs in 1 month

21
Q

Caput succedaneum CF

A

Benign
Superficial swelling to periosteum and galea aponeurotica (subcutaneous)
Boggy
Poorly demarcated edema/bleed
Crosses suture lines
Overlying skin normal
Self resolves

22
Q

Subgaleal hemorrhage CF

A

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

23
Q

Intraventricular hemmorrhage mech

A

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.

24
Q

Intraventricular hemmorhage CF

A

Develops at 3-4day
Mostly A/S
Bulging fontanel
Anemia
Apnea
Seizures

All neonates born<32w are screened with HEAD USG at 1-2w.

25
Q

Marfanoid body habitus

A

Lens dislocation
⬆️arm to height ratio
Pectus deformity
Joint hypermobility
Arachnodactyly
Tall and slender build
⬇️ upper body/ lower body
Segment ratio
Kyphosis
Scoliosis
Flat feet

Found in marfan and homocystinuria

26
Q

Homocystinuria Specific features

A

AR
Intelluctual disability
Thrombosis at any age
Downward lens dislocation
Megaloblastic anemia
Fair complexion

27
Q

Homocystinuria ttt

A

B6
Folate
B12
Antiplatelets
Anticoagulation

28
Q

Marfan dx specific CF

A

AD
Normal intellect
Aprtic root dilation
Upwards lens dislocation

29
Q

Arnold chiari subtypes

A

Chiari 1 : herniation of cerebellar tonsils
Syringomyelia

Chiari 2 : Herniation of tonsils and vermis
Ass with myelomeningocele

30
Q

Arnold chiari 1 CF

A

Occipital headache
Neck pain
Dizziness on physical activity and valsalva
Signa of inc ICP
Ataxia

31
Q

Syringomyelia CF

A

Ass with chiari 1
C4-C6
Loss of pain and temp (cape like dist)
Paresthesia and weakness with syrinx expansion
Scoliosis

32
Q

Friedrich ataxia CF

A

AR
GAA repeats
Mutation in frataxin gene expressed in;

  Brain:          neurologic dysfunction 
  Heart:          HCM
  Pancreas:    DM

Limb and gait ataxia(dorsal coulmn and spinocerebellar tract)
Kyphoscoliosis
Pes cavus

33
Q

Galactosemia CF

A

Hepatomegaly (galactose accumulation)
Jaundice and sever hyper bili
Vomiting and poor feeding
Cataracts
Inc risk for EColi sepsis
Seizure and hypoglycemia

34
Q

Galactosemia dx

A

Urine for reducing substances
Absent GALT activity in RBCs
⬆️bilirubin conj
⬇️glucose
⬆️ AST , ALT

35
Q

Galactosemia enzyme

A

Galactose 1 phosphate uridyltransferase
GALT

36
Q

Galactosemia ttt

A

Soy based formula
(Good prognosis with ttt)

37
Q

Breastfeeding failure jaundice vs galactosemia

A

BF failure jaundice has unconj bilirubin

38
Q

Neurocognitive disorders related to tuberous sclerosis

A

Learning disabilities
Autism

39
Q

Famous tumor of VHL

A

Cerebellar hemangioblastoma

40
Q

Risk factors of CP

A

Prematurity
Low birth weight
Intrauterine infection
Perinatal complications
Placental abruption , hypoxic ischemic injury and stroke

41
Q

CP c/F

A

Spastic type ;

 Affects 1 or more limbs
 Hypertonia
 Motor delay
 Commando crawl (diplegia)
 Early hand prefernce (hemiplegia) 
 Contractures 
 Talipes equinovarus (clubfoot)

Ataxic :

 Hypotonia 
 Incoordination
 Jerky speech
42
Q

Fragile X syndrome prognosis

A

Normal life expectancy

43
Q

Fragile X CF

A

Intellectual dysability
Neurobehavioral issues
Prominent forehead
Large ears
Long narrow face
Prominent chin
Macroorchidism

44
Q

Genetic dx with short life span and deceleration of head growth(microcepahly)

A

Rett syndrome

45
Q

Wilson dx pathogenesis

A

AR mutation ATP7B ➡️ hepatic copper accumulation ➡️ leak from damaged hepatocytes ➡️ deposits in tissues (BG , cornea)

46
Q

Wilson dx

A

⬇️ ceruloplasmin
⬆️ urinary copper
⬆️ copper on biopsy
Kayser fleischer rings on slit lamp

47
Q

Ttt of wilson

A

Chelators
Zinc (interferes with copper absorption)

48
Q

Wilson dx CF

A

Hepatic ;

 ALF
 Chronic hepatitis
 Cirrhosis

Neurologic :

 Parkinsonism
 Gait disturbance 
 Dysarthria

Psych :

 Depression 
 Personality changes 
 Psychosis
49
Q

Psychiatric features of wilson

A

Depression
Personality changes
Psychosis
Argumentative
Poor grades

Neurology (19 decks)

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