MOFFITT AM REPORT PEARLS 6/8/16: 1st Seizure and Klinefelter!

Thanks to Rabih for presenting an awesome case of a 34M with a first time seizure who was ultimately found to have Klinefelter syndrome! The patient also has constitutional symptoms and liver lesions concerning for malignancy, for which patients with Klinefelter syndrome are at increased risk. Kudos to Rabih for his thorough and ultimately diagnostic physical exam!

1st time seizure:

  • Can range from brief aura to major tonic-clonic seizure
  • Up to 10% of people living to age 80 have one or more seizures! (half are febrile seizures)
  • Etiology diagnosed in 85% based on hx/exam, lab tests, ECG, EEG, MRI
  • 50% have had unnoticed minor seizures before à epilepsy!
  • Low risk = no neuro deficits, normal MRI/EEG à 35% 5-year recurrence risk
    • Usually no tx given
  • High risk = neuro deficit and/or MRI/EEG abnormalities à 70% 5-year recurrence risk
    • Tx/ppx offered

Classification of seizures (just a reminder!):

  • WITHOUT LOC
    • Myoclonus
    • Simple partial seizure (sensory or motor)
  • WITH LOC
    • Absence seizures
    • Complex partial seizures
    • Tonic-Clonic seizures

Workup:

  • CBC, lytes (Na, Ca), LFTs, TSH
    • Generally blood tests are low yield for revealing seizure etiology but are still necessary to rule out provoked cause.
  • Infectious workup
    • PEARL: Look for eosinophilia suggesting parasitic infection, important cause of 1st time seizure in many parts of the world!
  • Blood glucose, ECG to rule out cardiac cause of syncope (seizure mimic)
  • EEG
    • Highest yield in 1st 24 hours after seizure
    • 8-50% of cases show EEG abnormalities
    • Unhelpful in syncope à 4% false positive rate
  • MRI: Many guidelines recommend in all 1st seizure patients
    • 10% yield
    • Superior to CT

See BMJ article: http://www.bmj.com/content/348/bmj.g2470.long

 

Klinefelters: 47 XXY karyotype (48 XXXY and mosaic karyotypes also seen)

  • Most common congenital cause of primary hypogonadism
  • 1 in 1000 live male births
  • Increased “dosage” of genes on X chromosome due to extra X chromosome
  • Can be mosaic (some 46 XY cells, some 47 XXY cells) if nondisjunction occurs during mitotic division after conception
  • Most common clinical manifestations:
    • Infertility/Azoospermia
    • Small testes, decreased facial/pubic hair, gynecomastia
    • Increased FSH/LH, decreased testosterone
    • Learning disabilities
  • See figure and table below from recent review article:

Evernote:  https://www.evernote.com/shard/s272/sh/55ffa56b-d02c-4a7d-9de0-bc8d42e2f0ea/bd1fe220150ef758537eac01cf2354fe
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