A 25-year-old female with a history of bilateral vitreous haemorrhage is referred due to progressive ataxia.
What is the likely diagnosis?
Correct Answer D: Retinal and cerebellar haemangiomas are key features of Von Hippel-Lindau syndrome. Retinal haemangiomas are bilateral in 25% of patients and may lead to vitreous haemorrhage.
Von Hippel-Lindau syndrome:
Von Hippel-Lindau (VHL) syndrome is an autosomal dominant condition predisposing to neoplasia. It is due to an abnormality in the VHL gene located on short arm of chromosome 3.
Features:
A 78-year-old man is seen in the Memory clinic. His daughter reports that for the past 12 months he has become increasingly forgetful and has now started to wander around at night. A mini-mental test is performed and he scores 18 out of 30. Neurological examination is unremarkable. A full blood screen is also requested, all of which comes back as normal.
What is the most appropriate next step?
Correct Answer A: Neuroimaging is required to diagnose dementia.
Dementia:
Dementia is thought to affect over 700,000 people in the UK and accounts for a large amount of health and social care spending. The most common cause of dementia in the UK is Alzheimer's disease followed by vascular and Lewy body dementia. These conditions may coexist.
Management:
*In the 2011 NICE guidelines structural imaging was said to be essential in the investigation of dementia.
You want to prescribe an antiemetic to a 19-year-old female who is having a migraine attack.
Which one of the following medications is most likely to precipitate extrapyramidal side-effects?
Correct Answer E: Extrapyramidal side-effects are particularly common in children and young adults.
Migraine: management: It should be noted that as a general rule 5-HT receptor agonists are used in the acute treatment of migraine whilst 5-HT receptor antagonists are used in prophylaxis. NICE produced guidelines in 2012 on the management of headache, including migraines.
Acute treatment:
Prophylaxis:
*Caution should be exercised with young patients as acute dystonic reactions may develop.
A 55-year-old man presents due to an uncontrollable urge to move his legs during the night-time. He has also experience the sensation of spiders crawling over his legs. Simple measures such as walking and massaging the affected limb have not alleviated the problem.
What is the most appropriate medical therapy?
Correct Answer C: Restless leg syndrome - management includes dopamine agonists such as ropinirole.
Restless legs syndrome:
Restless legs syndrome (RLS) is a syndrome of spontaneous, continuous lower limb movements that may be associated with paraesthesia. It is extremely common, affecting between 2-10% of the general population. Males and females are equally affected and a family history may be present.
Clinical features:
Causes and associations:
The diagnosis is clinical although bloods to exclude iron deficiency anaemia may be appropriate.
A 34-year-old man is reviewed in the neurology clinic. He has been established on sodium valproate for primary generalized epilepsy. Despite now taking a therapeutic dose he continues to have seizures and is troubled by weight gain since starting sodium valproate. He asks to stop his current medication and try a different drug.
Which one of the following drugs would be the most appropriate second-line treatment?
Correct Answer A: Monotherapy with another drug should be attempted before combination therapy is started. Caution should be exercised when combining sodium valproate and lamotrigine as serious skin rashes such as Steven-Johnson's syndrome may be provoked.
Epilepsy: treatment:
Most neurologists now start antiepileptics following a second epileptic seizure. NICE guidelines suggest starting antiepileptics after the first seizure if any of the following are present:
Sodium valproate is considered the first line treatment for patients with generalized seizures with carbamazepine used for partial seizures.
Generalized tonic-clonic seizures:
Absence seizures* (Petit mal):
Myoclonic seizures:
Partial seizures:
*Carbamazepine may actually exacerbate absence seizure.
**The 2007 SANAD study indicated that lamotrigine may be a more suitable first-line drug for partial seizures although this has yet to work its way through to guidelines.
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