Pregunta 79. Cuál es el test diagnóstico correcto en este caso?


Your answer Was Correct

A 43-year-old woman of Norwegian ancestry presents with numerous neurological complaints.  She has had numbness and tingling in her feet for the past 6 months.  She has also recently developed a facial droop on the left in the past several days.  Her only other complaint is a chronic cough for the past 6 years.  Her physical exam is pertinent for decreased pinprick in a stocking distribution to the ankles as well as left facial weakness in a lower motor neuron distribution.  EMG is performed without any sign of large fiber neuropathy.  Magnetic resonance imaging of the brain with and without gadolinium reveals dural thickening and enhancement in the basal regions.  Chest x-ray reveals bilateral hilar lymphadenopathy.  Which of the following is the most appropriate next step in management?

A. Brain biopsy in a region of leptomeningeal enhancement
B. Initiation of high dose prednisone therapy
C. Skin punch biopsy for possible small fiber neuropathy
D. Biopsy of the hilar lymph nodes **
E. Initiation of IV infliximab therapy
** = Your answer

The patient’s clinical presentation is most consistent with neurosarcoidosis. Facial nerve palsies are the most common symptom of neurosarcoidosis. Sarcoidosis is most commonly seen in individuals of either African American or Scandinavian descent. Hilar lymph node biopsy should be pursued to identify noncaseating granuloma pathology consistent with sarcoidosis. Although brain biopsy may provide the same information, the least invasive method of diagnosis is optimal. Skin biopsy is not likely providing a diagnosis for the underlying cause. After the definitive diagnosis is made, steroids are first-line treatment, but other immunomodulatory therapies may be pursued if steroids are not sufficient for disease control.
* Tavee JO, Stern BJ. Neurosarcoidosis. Continuum Lifelong Learning Neurol. 2014 Jun;20(3):545-559.

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