I am an MD. During residency, I gave birth, & developed significant postpartum depression & profound fatigue. I was unable to return to work. One year later I was still sleeping 14 hours/day. Overnight PSG: no OSA; mostly stages 1&2, paucity of REM. MSLT: MSL 6.3 min w/no REM (I do take Welbutrin, a REM-suppressant). Dx: idiopathic hypersomnolence vs narcolepsy w/o cataplexy. Meds didn’t help. 3 years later, repeat OPSG+MSLT: MSL=6.3 min, 1 REM episode at 4.5 min.
Last year, I developed troubling neuro sx, bilaterally but greater on right. Dysmetria causing falls down stairs, by misjudging where I plant my step. Troubles stringing beads & tying shoelaces. Slight resting tremor. Decreasing Adderall dose helped.
Until last month, neuro exam WNL except tandem gait: foot jerks up/down, no control. Also, walking >30 yards or 2 flights of stairs causes lower extremity fatigue, w/spasming & shaking if I try to continue.
I have fasciculations throughout my body. Excessive eye movement produces saccades. Word-finding difficulties. Impaired short-term memory.
Father w/similar sx at same age (30s). He has a lesion in cerebellum/pons. His siblings have vHL (cerebellar hemangioblastomas, but refuse genetic testing).
My workup has been mostly unremarkable: MRI brain w/w/o (last year); EEG (in Jan.); CBC, CMP, ESR, Vit E, folate, RPR, Vit B12 (215), total T4 (12.1), TSH (1.71), anti-gliadin & tTG, anti SS-A&B, NMDA receptor Ab, ANA, genetics: vHL, Huntingtons, SCAs.
GAD-65 (glutamic acid decarboxylase) positive at 12.8 IU/L (ref range 0-5). But I’m told it is exceedingly high in autoimmune cerebellar ataxias.
MRI spine & EMG not done but are scheduled in 3 weeks. Also no LP has been done.
Of note, I have selective IgG immunodeficiency & take weekly subcut infusions of IgG x 2 years.
More troubling sx past 3 weeks– Difficulty urinating (60-90 seconds to start stream). Must extract feces w/gloved finger. Lower extremity reflexes are now 3-4+. Tingling on dorsal hand and forearm.