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Neuro > Genetic Neurodegenerative Disease + Congenital > Flashcards

Genetic Neurodegenerative Disease + Congenital Flashcards

1
Q

What is neurofibromatosis

A

AD condition that causes tumours (neuroma) to develop
Benign but can cause neuro./ structural Sx
Two types
NF1 - 17q tumour suppressor
NF2 - chromosome 22

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2
Q

What is criteria for NF1

A 
CRABBING
Cafe au lait 6+ >5mm in children or >15mm in adults 
Relative with NF1
Axillary or inguinal freckles
Bony dysplasia
Iris haemartoma 2+ (Lisch nodules) - yellow spot on iris
Neurofibroma 2+ 
Glioma of optic nerve - decreased vision
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3
Q

What is needed to indicate Dx

What are other features

A 
2/7
Macrocephaly
Short stature
Dysmorphism
Epilepsy
LD
Scoilosis 
Raised BP due to renal artery stenosis
GI / brain / spinal cord / leukaemia
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4
Q

How do you investigate

A 
Clinical
Genetic if doubt
X-ray for bone pain / lesions
CT / MRI
BP 
Spine X-ray
Visual acuity and field
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5
Q

What does NF2 present with

A

Bilateral vestibular schwanoma
Mengioma
Ependyoma
GLioma

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6
Q

How is tuberous sclerosis inherited and how do you screen at risk

A 
AD
TSC1 and TSC2
Surveillance
Cranial MR
Renal US
ECHO
FUndoscopy
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7
Q

What does it cause

A

Development of haemartoma = classic feature which affects different areas

  • Brain
  • Retina
  • Kidney
  • Skin
Skin
Ash leaf spots - depigmentated macule
Rough skin over L spine (Shagreen) 
Angiofibroma 
Subungal Fibromata beneath nails
Cafe au lait

Neuro
Development delay
Epilepsy - infantile spasm
Intellectual impairment

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8
Q

What are complications / other features

A 
Rhabdomyoma of heart - malignancy 
Glioma's in brain
Retinal haematoma
PCKD
Angiomyolipoma in kidney 
Multiple lung cyst
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9
Q

What is classic presentation

A

Child with epilepsy + skin features

Triad of epilepsy, LD and skin

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10
Q

How is Huntington’s inherited and what is the mutation

A

AD
Fully penetrant
CAG expansion on chromosome 4
Leads to excess glutamine

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11
Q

What type of disorder

A

Trinucleoside

Leads to anticipation

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12
Q

What is anticipation

A

Age of onset reduces and more severe with each generation affected

  • Huntington’s
  • Fredreich
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13
Q

What is age of onset

A

Adult

Late 30’s / 40’s

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14
Q

What is pathology

A

Severe atrophy of striatum affecting basal ganglia
Responsible for initiating and preventing unwanted movement
Also role in cognition and emotion

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15
Q

What are features

A

Movement disorder
Cognitive change
Persoanlity change
Psychaitric

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16
Q

What are movement disorder

A 
Chorea = characteristic excessive spontaneous movement
Athetosis
Dystonia
Bradykinesia
Eye - rapid eye movement = early sign
Myoclonus
Rigid
Dysarthria
Dysphagia
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17
Q

What is cognitive change

A

Subcortical dementia
Poor memory
Executive most affected - planning / attention

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18
Q

When does cognitive change occur

A

Early

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19
Q

What are personality changes

A

irritable
Apathetic
Disinhibition
Self centered

20
Q

When does personality change occur

A

Early

21
Q

What are psychiatric

A

Depression
Paranoia
Psychosis
Schizophrenia

22
Q

What is usual cause of death

A

Become more susceptible to infection

Suicide

23
Q

How do you Dx

A

Clinical signs

Neuropsychology

24
Q

How do you treat

A 
Supportive 
SALT
Dietician
Symptom relief 
Must inform DVLA
POA before cognitive decline
25
Q

What testing is available

A

Pre-natal

Pre-implantation if IVF

26
Q

What is lissencephaly

A

Smooth brain as gyri and sulci fail to form

27
Q

What are Sx

A

FTT
Mental impairment
Seizure
Abnormal muscles

28
Q

What is polymicrogyria and presentation

A

Excessive small gyri

Mental retardation and seizure

29
Q

What is microcephaly

A

Head OCF <2 centile

30
Q

What can cause

A 
Normal variation / familial 
Congenital infection - ZIKA
Perinatal injury - HIE
FAS / drugs
Syndrome e.g. Patau
Craniosyntosis
31
Q

What is porencephaly and Sx

A

CSF filled cyst

Mental retardation, FTT and seizure

32
Q

What is schizencephaly and what causes

A

Large clefts of cysts in brain

Stroke / infection / genetics

33
Q

How does it present

A

Mental retardation, FTT, paralysis and seizure

34
Q

What is diastolematomyelia

A

Spinal cord split into 2 parts

35
Q

What are the Sx

A

Vertebral anomalies
Scoliosis and foot defmmority
Weakness

36
Q

What is anencephaly

A

Failure of anterior neuropore to close
Skull fails to form and brain tissue degenerates
Incompatible with life

37
Q

What is encephalophoele

A

Part of neural tube doesn’t form leaving gap in skull which spinal cord can herniate through

38
Q

What is spina bidifa oculta

A

Failure of embryonic halve of vertebral arch to fuse

L5 / L6

39
Q

Sx

A

Usually none

40
Q

What are types of spina bifida cystica

A

Meningocele
Meningomyecele
Myeloschsis

41
Q

Meningocele

A

Mildest
Protrusion of meninges
Nerves unaffected

42
Q

Menigomyecele

A

Herniation of neural root and cord leading to Sx

43
Q

What is it associated with

A

Arnold chairi
Acqueduct stenosis
Cauda equina

44
Q

What is myeloschisis

A

Spina cord open = paralysis and no sensation

45
Q

How do you prevent

A

Folic acid

Screen amniocentesis + USS

46
Q

What suggests

A

High AFP

Neuro (19 decks)

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