Genetic Neurodegenerative Disease + Congenital Flashcards
(46 cards)
What is neurofibromatosis
AD condition that causes tumours (neuroma) to develop
Benign but can cause neuro./ structural Sx
Two types
NF1 - 17q tumour suppressor
NF2 - chromosome 22
What is criteria for NF1
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
What is needed to indicate Dx
What are other features
2/7 Macrocephaly Short stature Dysmorphism Epilepsy LD Scoilosis Raised BP due to renal artery stenosis GI / brain / spinal cord / leukaemia
How do you investigate
Clinical Genetic if doubt X-ray for bone pain / lesions CT / MRI BP Spine X-ray Visual acuity and field
What does NF2 present with
Bilateral vestibular schwanoma
Mengioma
Ependyoma
GLioma
How is tuberous sclerosis inherited and how do you screen at risk
AD TSC1 and TSC2 Surveillance Cranial MR Renal US ECHO FUndoscopy
What does it cause
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
What are complications / other features
Rhabdomyoma of heart - malignancy Glioma's in brain Retinal haematoma PCKD Angiomyolipoma in kidney Multiple lung cyst
What is classic presentation
Child with epilepsy + skin features
Triad of epilepsy, LD and skin
How is Huntington’s inherited and what is the mutation
AD
Fully penetrant
CAG expansion on chromosome 4
Leads to excess glutamine
What type of disorder
Trinucleoside
Leads to anticipation
What is anticipation
Age of onset reduces and more severe with each generation affected
- Huntington’s
- Fredreich
What is age of onset
Adult
Late 30’s / 40’s
What is pathology
Severe atrophy of striatum affecting basal ganglia
Responsible for initiating and preventing unwanted movement
Also role in cognition and emotion
What are features
Movement disorder
Cognitive change
Persoanlity change
Psychaitric
What are movement disorder
Chorea = characteristic excessive spontaneous movement Athetosis Dystonia Bradykinesia Eye - rapid eye movement = early sign Myoclonus Rigid Dysarthria Dysphagia
What is cognitive change
Subcortical dementia
Poor memory
Executive most affected - planning / attention
When does cognitive change occur
Early
What are personality changes
irritable
Apathetic
Disinhibition
Self centered
When does personality change occur
Early
What are psychiatric
Depression
Paranoia
Psychosis
Schizophrenia
What is usual cause of death
Become more susceptible to infection
Suicide
How do you Dx
Clinical signs
Neuropsychology
How do you treat
Supportive SALT Dietician Symptom relief Must inform DVLA POA before cognitive decline
