Case 23 – Common Complaints; Rare Pathology

Abstract

Mrs. A is a 30-year-old female who presented to the emergency department of a major urban hospital in Canada with complaints of abdominal pain, fatigue, and tremor. Her first language is Arabic and history taking was complicated by Mrs. A’s very limited English. She had arrived in Canada only a few days before presentation. Before coming to Canada, Mrs. A lived for approximately 2 years in a refugee camp and had very limited access to medical care during that time.

Case 23 Common Complaints; Rare Pathology

Chris Feehan

23.1 Case Report

Mrs. A was suffering from significant abdominal discomfort and distension and this was her primary complaint on presentation. The pain was diffuse but worse in the upper right quadrant. This pain was intermittent but had been worsening over the prior 6 months. She had also noticed worsening bilateral ankle swelling over a similar time period. There was associated fatigue and nausea but no jaundice or vomiting.

Once Arabic translation was obtained, it was revealed that she had an approximately 4-month history of tremors, stiffness, and reduced coordination in all four limbs. This was primarily in the arms and hands, although she also reported some unsteadiness in her gait. These symptoms were fluctuating but worsening steadily. Impairment was asymmetric, with the worst symptoms in the right arm. As a result of these symptoms, Mrs. A was having difficulty with household tasks including cooking and cleaning. She reported that she sometimes dropped things she was holding and felt she had reduced coordination. Mrs. A also reported weakness, especially in her right hand, although it was not clear whether this dysfunction was a result of her tremor or due to actual weakness. When her tremor was at its worst she was unable to feed herself. However, in between episodes of tremor her function was reasonably good and she experienced little to no functional impairment. The periods of worsening tremor and stiffness were becoming more frequent and at presentation were happening daily and lasting for hours at a time.

Mrs. A was also experiencing mild dysarthria for 1–2 months prior to presentation. There were no problems with swallowing. Finally, Mrs. A was also reporting pain in her extremities. The pain was described as aching and burning throughout her extremities but primarily in her right leg, focused on the right knee. Mrs. A had been experiencing this pain for many months with little progression. She was not taking any medication to treat the pain.

At this point, through translation and further review of her documents, it became clear that Mrs. A had been diagnosed with Wilson’s disease since age 24. She had a sister who died at age 15 – apparently from complications of Wilson’s disease. Prior to fleeing her home country and living in a refugee camp for 2 years, Mrs. A had been on zinc therapy. However, she had not had any access to medications during the years she lived in the refugee camp.

Mrs. A and her family denied any personality changes, behavior changes, mood disturbances, or hallucinations. She endorsed some difficulty with short-term memory and concentration over the last few months prior to presentation.

Physical exam demonstrated slightly dysarthric speech when speaking Arabic. Eye movements were unrestricted in any direction but smooth pursuit eye movements were saccadic. A sardonic smile was noted. When initially assessed by Ophthalmology, it was reported that Mrs. A did not have Kayser-Fleischer rings – visible deposits of copper in the Descemet’s membrane of the eye – encircling the irises. This was the information available to the Neurology team at the time of assessment of the patient. However, this was likely due to limited examination tools and cooperation. Subsequent exam using a slit-lamp device revealed bilateral, dense Kayser-Fleischer rings. Examination of the remainder of cranial nerves was unremarkable.

Tone in the extremities was normal with no rigidity or cog-wheeling. Deep tendon reflexes were relatively brisk with some minor spreading. Strength was normal and symmetrical in all four limbs. There was a low amplitude and low-to-moderate frequency resting tremor in her right hand. Repetitive movements of the fingers and hands were unremarkable and her rate, rhythm, force, and amplitude were all normal. Gait was only mildly impaired, with some imbalance, especially during a tandem gait task. There was a decreased arm swing bilaterally, predominately on the right. She was able to walk without an assistive device. Sensory testing was unremarkable.

Mrs. A had mild abdominal distension with no detectable ascities. She was tender in the right upper quadrant. There was also moderate pitting pedal edema. Mrs. A had palmar erythema but no clubbing. No other stigmata of liver disease were appreciated.

Selected initial lab results are shown in Table 23.1. They revealed a low ceruloplasmin, high urinary Cu excretion and low serum Cu – suggestive of dysregulated Cu homeostasis. There was a mild normocytic anemia and significant thrombocytopenia. A liver panel demonstrated an elevated aspartate aminotransferase (AST) and low albumin – suggestive of liver dysfunction.

Table 23.1 Selected lab results

Lab test	Value	Normal range
Ceruloplasmin	59 mg/L	200–500 mg/L
24-h Urinary Cu excretion	17.56 umol/day	<0.6 umol/day
Serum Cu	5.4 umol/L	11–26 -umol/L
Hemoglobin	105 g/L	123–157 g/L
Platelets	59 × 109/L	130–400 × 109/L
Alanine aminotransferase (ALT)	46 U/L	10–65 U/L
Aspartate aminotransferase (AST)	77 U/L	10–38 U/L
Alkaline phosphatase	128 U/L	30–135 U/L
Albumin	17 g/L	34–50 g/L