Young Girl With Clumsiness, Dystonia, and Speech Difficulty

Physical Examination and Workup

Upon physical examination, the patient appears mildly jaundiced but is otherwise well-appearing and in no distress. Her mucous membranes are moist.

The ophthalmic examination shows icteric sclera, normal pupillary reactions to light, normal visual acuity and fields, and normal optic fundi. Dark, brown-colored rings are noted around the periphery of the iris and are visible on naked-eye examination; this is confirmed with a slit-lamp examination.

Neurologic examination reveals slow mentation, slurred speech, ataxic gait, diffuse muscle rigidity, and a fine resting tremor. The findings are symmetric, and the patient's reflexes are brisk bilaterally, with flexor plantar responses. The liver, palpated at three finger-breadths below the costal margin, is enlarged, firm, and nontender. The spleen is not palpable, and shifting dullness is not present. No parotid enlargement, palmar erythema, gynecomastia, or spider nevi are observed. The chest and cardiovascular examinations are unremarkable.

A complete blood cell count and erythrocyte sedimentation rate are both within normal limits. A hepatic panel reveals a total bilirubin level of 3.6 mg/dL, an alanine aminotransferase of 99 U/L level, an alkaline phosphatase level of 284 U/L, an albumin of 4.4 g/dL, and a prothrombin time of 18 seconds. Markers for hepatitis B and C are negative.

MRI of the brain is performed (Figure 1).

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Cite this: Sidra Aurangzeb, Muhammad Tariq. Young Girl With Clumsiness, Dystonia, and Speech Difficulty - Medscape - Jun 24, 2015.