Presenter: Tyler Reimschisel, MD Preceptor: Harvey Singer, MD

Disclosures

October 07, 2002

Differential Diagnosis

In summary, this is a 17-year-old girl with a subacute presentation of bulbar abnormalities, including dysphagia, dysarticulation, and vertigo. But she has other symptoms that do not localize to the brainstem, including depression and difficulty with handwriting. Furthermore, her MRI demonstrates symmetric basal ganglia abnormalities. She does not manifest any signs of pyramidal dysfunction.

Based on this history, physical examination, and brain MRI, what are the possible causes for the patient's neurologic abnormalities?

Given the symmetric abnormalities in the basal ganglia, the differential diagnoses to be considered initially include:

 

Mitochondrial cytopathy

Aminoacidopathy

Organic acidopathy

Wilson's disease

Pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz disease)

Huntington's disease

Parainfectious or postinfectious process

 

Which tests would you recommend to narrow the differential?

 

The following studies were ordered:

Complete blood count

Comprehensive metabolic panel

Plasma amino acids and urine organic acids

Serum lactate

Serum copper and ceruloplasmin

Lumbar puncture for cell count, glucose, protein, amino acids, and lactate

Ophthalmology evaluation

Repeat swallowing evaluation

 

Laboratory Results

Comprehensive metabolic panel - normal

WBC and hemoglobin - normal

Platelets = 124

Serum lactate = 1.2 (normal range, 0.5-2.2 mmol/L)

Plasma amino acids and urine organic acids - normal

Serum copper = 52 (normal range, 80-155)

Ceruloplasmin = 5 (normal range, 18-55)

Swallow study: no aspiration risk, difficulty initiating a swallow, possibly due to apraxia

An outpatient lumbar puncture was scheduled.

Ophthalmology Evaluation

The ophthalmologist pages you to notify you of his findings (see Figures 4-6). After reviewing the pictures he has taken from the patient's eye examination, what's your diagnosis?

Figure 4.

Unaided direct visualization of eye without slit-lamp reveals no abnormality.

 

Figure 5.

Slit-lamp examination demonstrates Kayser-Fleischer ring in Descemet's membrane on the inner side of the cornea (subtle discoloration at tip of arrow head).

 

Figure 6.

Examples of Kayser-Fleischer rings visualized with the unaided eye in other patients with this disease. Courtesy of Stephen Reich, MD, Johns Hopkins University SOM.

What's your diagnosis?

  1. Mitochondrial cytopathy

  2. Aminoacidopathy

  3. Organic acidopathy

  4. Wilson's disease

  5. Pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz disease)

  6. Huntington's disease

  7. Parainfectious or postinfectious process

View the correct answer.

Which test would confirm the diagnosis?

  1. Alpha feto-protein

  2. 24-hour urine copper test

  3. Repeat urine organic acids

  4. CSF white blood cell count

  5. Muscle biopsy

View the correct answer.

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