A 34 year old man presents to Queen Elizabeth Central Hospital, Blantyre with a 2 day history of frontal headaches and generalized tonic clonic seizures. His guardians report that he has had multiple nodules all over his body since childhood but has previously been well.
He has another prolonged seizure after admission. He is post-ictal on examination with a Glasgow Coma Scale 11/15 (E -4, V-2, M-5). His pupils are of normal size and equally reacting to light. His vital signs on admission are: blood pressure 121/81mmHg, pulse 94/min, temperature 37.0°C, respiratory rate 24/min. The chest and abdominal examination are normal. The rest of the neurological exam does not reveal any focal deficits.
- What is his underlying condition?
- What differential diagnoses are you considering?
- What tests would you want to do?
- What would your initial management be?
Write what you think and what you'd do
Show the answer?
His underlying condition is neurofibromatosis type 1. It is associated with epilepsy and with astrocytomas, gliomas, but at presentation it may be causative or just a coincidence.
Tests you should seek:
- Blood glucose
- Full blood count
- Malaria blood film
- Lumbar puncture with examination to include India Ink stain (if available you would test for Cryptococcal antigen)
- HIV test
- Urea and electrolytes
- Brain imaging (but CT /MRI not available here)
- Serology for syphilis
- Epilepsy – simple or caused by neurofibromatosis-associated brain lesions
- Cerebral malaria is more likely in children than adults
- Metabolic – DEFG; Don’t ever forget Glucose. Hypoglycaemia may induce coma and convulsions. Other metabolic disturbances including hyponatraemia
- Meningitis – particularly TB or Cryptococcal meningitis in the presence of HIV infection
- Infective focal brain lesions: Toxoplasmosis, primary CNS lymphoma – usually HIV-related; Cysticercosis, neurosyphilis
- Control continuing convulsions with diazepam IV.
Then in this setting:
- Phenobarbitone 600mg loading dose (infusion or slow push) the 90mg maintenance (IM or orally if patient can tolerate it) OR Phenytoin 900mg loading dose (infusion) then 100mg tds maintenance. Blood monitoring is not available.
- Empirical cover for meningitis until CSF results back: Ceftriaxone 2g bd IV
For options in other centres, see …
This case contributed by Dr Tamara Phiri