A 46-year-old female presented to the Neurology Clinic at The Johns Hopkins Hospital with a 12-month history of lower extremity weakness and difficulty walking, with the development of upper extremity weakness, numbness and burning in both hands, choking when drinking liquids and episodes of muscle spasms over the last 4 months.

The patient is a 46-year-old female who developed difficulty walking approximately one year prior to this visit. She initially felt like her balance was off and that she was tilting from side to side. She also began complaining of generalized lower extremity weakness that made walking difficult. Her family practitioner referred her to a neurologist, and electromyography with nerve conduction studies revealed no abnormalities. A subsequent MRI revealed a possible C3-C4 disc herniation. She was referred to a neurosurgeon who recommended steroid treatment and surgery. However, the patient was managed on Klonopin, Baclofen and Valium due to concerns for a psychosomatic etiology. In addition to weakness, she reported recurrent episodes of muscle spasms that would occur during the day or night mostly in her legs. She described it as "her leg(s) would start jumping". These episodes occasionally occurred also in the back. An electroencephalograph showed no epileptogenic activity. There was no improvement with these treatments and she reported increasing leg weakness, inability to ambulate, difficulty raising her arms to brush her hair as well as difficulty with fine motor functions such as writing. A repeat evaluation generated a diagnosis of spinal myoclonus. She was noted to have abnormal somatosensory evoked potentials with cervical slowing. The patient was transferred to an alternate facility, and the neurologist concurred with the diagnosis of spinal myoclonus and spinal cord compression. Eight months prior to this evaluation, a discectomy was performed, and the patient recovered with minimal improvement in her symptoms. However, attempts to taper off Klonopin resulted in reemergence of the leg and back spasms. Her condition progressively declined despite additional medications, and she became wheelchair bound with numbness that seemed to start in the feet and progress up the legs to the trunk and arms, slurred speech, double vision, and numbness and tingling in her hands over the month prior to evaluation at Johns Hopkins. She also complained of excessive somnolence, poor coordination and balance, generalized weakness, and bladder incontinence. Over the past month she has noted some difficulty swallowing water with occasional choking. She was prescribed supplemental oxygen by her outside physicians.

Seasonal allergies. There is no history of trauma, stroke, cardiovascular disease, arrhythmias, congenital heart disease, or tuberculosis exposure.

S/P Cesarean section (20 years) S/P discectomy (8 months)

Klonopin
Neurontin

NKDA

The patient is a medical writer. She used to smoke but quit 17 years ago. No significant alcohol use. She has not traveled outside the United States for the past 5 years. She lives with her husband and her teenage children. They have a small dog and live in the suburbs.

Her father is still living and had coronary artery bypass surgery as well as renal cell carcinoma. Her mother is also living with breast cancer and diabetes. Her sisters and brother are in good health, as are her son and daughter.

No history of fevers, chills, or night sweats. No episodes of syncope or loss of consciousness. Shes lost approximately 20 pounds over the last year and notes muscle wasting. Appetite is poor. No shortness of breath, but recent orthopnea, requiring 3 pillows to sleep at night and requiring continuous use of supplemental oxygen.

General: Wheelchair-bound, slumped posture, very somnolent but arousable Vital Signs: BP 120/78; pulse 96, regular rate and rhythm; RR 11; Temp 37°C; O2 saturation 93% while using nasal oxygen at 6L/min.
HEENT: PERRL, fundoscopic exam revealed sharp disc margins; see below
Neck: Supple; Carotids 2+ and symmetric, no bruits
Cardiac: RRR; Normal S1, S2 with no murmurs, rubs or gallops; pulses 2+ bilaterally
Chest: No rales, wheezes or rhonchi. Paradoxical respirations present in the supine position with use of accessory muscles during deep breathing.
Abdomen: Nontender, normal bowel sounds
Extremities: No tenderness, bilateral 2+ edema at the ankles.
Skin: No rash.
Neuro:

Mental status: Oriented x 3, recent and remote memory intact, attention span limited by somnolence, slurred speech, normal fund of knowledge
CN II: Visual acuity not tested, visual fields full to confrontation
CN III, IV, VI: PERRL, no afferent papillary defect, ophthalmoparesis with a right gaze of 15°
CN VII: Facial diplegia, unable to fully close left eye
CN VIII-XII: WNL
Motor: Normal bulk with decreased tone; 3-4/5 strength in upper extremities, 0-1/5 strength in lower extremities; bilateral pronator drift
Sensory: Decreased sensation throughout; decreased vibratory sensation, left leg right leg
Coordination: Dysdiadochokinesia, dysmetria, decreased finger-to-nose- to- finger, unable to perform heel-to-shin test, unable to rise from wheelchair
Reflexes: Complete areflexia; plantar response flexor bilaterally

Na 132, K 4.7, Cl 88, BUN 17, Gluc 122, Cr 0.5, Ca 10.2, T Bili 0.4, ALT 65, AST 32, Alk phos 100, TSH/T4- WNL, cardiac enzymes WNL, coags WNL.
ABG-pH 6.99, pCO2 179, pO2 90, lactic acid 0.9.
WBC 20310, Hgb 13.5, Hct 40.7, Plt 392.
vit B12 WNL, HIV neg, RPR neg, Lyme Ab neg, ANA pos 1:80 homogeneous pattern, urine protein/24hr 780, anti-Hu Ab neg, anti-Ri Ab neg, anti-purkinje cell Ab neg, anti-Yo Ab neg
CSF-IgG 9.5 (serum IgG 1750), HSV neg, enterovirus neg, EBV neg, CMV neg, cryptococcal antigen neg, VZV neg, JC virus neg, myelin basic protein WNL

Figure 1. (A) Contrast-enhanced chest CT shows a 4 x 3.6 cm heterogeneous mass in the right axilla and adjacent 1 cm lymph node. A crescent hypoattenuated area within this mass suggests cystic or necrotic change. (B) Left lower lobe consolidation that may represent atelectasis or pneumonia.

Figure 2. (A) Fluid-attenuated inversion recovery sequence of brain MRI shows abnormal, increased signal within the pons including the facial colliculi symmetrically, and along the left posterior corona radiata. (B) Corresponding sections on post-contrast T1-weighted images do not show any enhancement.

In clinic, the patient was noted to be extremely somnolent and it was decided she should be admitted to TheJohns Hopkins Hospital. In the clinic she had an EMG nerve conduction study which showed a sensory neuropathy and evidence of demyelination. The patient was transferred to the Neurosciences ICU for further therapy and evaluation.

What is the differential and most likely diagnosis for the patient's neurologic symptoms?
What is the prognosis for this patient?
Would any additional information or results aid in determining her prognosis?