A 24-year-old woman with Charcot-Marie-Tooth disease (type 1) asks how likely it is that any future children will have the disease.
What is the most accurate answer?
Correct Answer E: Charcot-Marie-Tooth disease (hereditary sensorimotor neuropathy type I) is an autosomal dominant condition and therefore 50% of children will be affected.
HSMN:
Hereditary sensorimotor neuropathy (HSMN) is a relatively new term which encompasses Charcot Marie-Tooth disease (also known as peroneal muscular atrophy). Over 7 types have been characterized - however only 2 are common to clinical practice:
HSMN type I:
A 44-year-old woman presents with a three month history of worsening involuntary movements of the head. These are worse when she is stressed and improved by alcohol. They are not present when she is sleep. There are no other neurological symptoms of note and neurological examination is unremarkable other than spontaneous movements of the head which are worse when she looks to either side. Her father had a similar complaint but never sought medical attention.
What is the most likely diagnosis?
Correct Answer E: Essential tremor is the most common cause of titubation (head tremor). Whilst the majority of patients will complain of hand tremor titubation may occur in isolation. The tremor is characteristic as it is worse on movement and during stress and relieved by alcohol and sleep. The family history is also a pointer.
Essential tremor:
Essential tremor (previously called benign essential tremor) is an autosomal dominant condition which usually affects both upper limbs.
Features:
Management:
A 40-year-old woman who is known to be HIV positive is admitted to the Emergency Department following a seizure. Her partner reports that she has been having headaches, night sweats and a poor appetite for the past four weeks. Blood tests and a CT head are arranged:
Correct Answer A: This is a difficult question. Toxoplasmosis is the most common cause of brain lesions in HIV patients. However, around 80% of toxoplasmosis cases involve multiple lesions and the history is suggestive of lymphoma. Cerebral tuberculosis is much less common than lymphoma in HIV.
HIV: neurocomplications:
1- Generalized neurological disease:
Encephalitis:
Cryptococcus:
Progressive multifocal leukoencephalopathy (PML):
AIDS dementia complex:
2- Focal neurological lesions:
Toxoplasmosis:
Primary CNS lymphoma:
Differentiating between toxoplasmosis and lymphoma is a common clinical scenario in HIV patients. It is clearly important given the vastly different treatment strategies. The table below gives some general differences.
Tuberculosis:
Which one of the following statements regarding the use of 5-HT1 agonists in the treatment of migraine is incorrect?
Correct Answer C: Triptans should be taken when the headache starts, rather than the aura.
Triptans:
Triptans are specific 5-HT1 agonists used in the acute treatment of migraine. They are generally used second line when standard analgesics such as paracetamol and ibuprofen are ineffective.
Prescribing points:
Adverse effects:
Contraindications:
Which one of the following statements regarding epilepsy in pregnant women is correct?
Correct Answer D:
Epilepsy: pregnancy and breast feeding:
The risks of uncontrolled epilepsy during pregnancy generally outweigh the risks of medication to the fetus. All women thinking about becoming pregnant should be advised to take folic acid 5mg per day well before pregnancy to minimize the risk of neural tube defects. Around 1-2% of newborns born to non-epileptic mothers have congenital defects. This rises to 3-4% if the mother takes antiepileptic medication.
Other points:
Breast feeding is generally considered safe for mothers taking antiepileptics with the possible exception of the barbiturates.
It is advised that pregnant women taking phenytoin are given vitamin K in the last month of pregnancy to prevent clotting disorders in the newborn.
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