A Young Man With Difficulty Walking and Double Vision

Sadaf Khattak, MBBS; Sumaira Nabi, MBBS; Irfan Khattak, MBBS; Mazhar Badshah, MD, MBBS


February 09, 2017

Physical Examination and Workup

Upon physical examination he is conscious and alert, with a regular pulse of 80 beats/minute, blood pressure of 110/70 mm Hg, and a respiratory rate of 12 breaths/minute. His oral temperature is 98.6°F. He is noted to have a short neck, blue sclera, and increased anteroposterior diameter of his skull. Neurologic examination reveals an oriented male with a Glasgow Coma Score of 15/15, intact higher cognitive functions, and scanning speech. His pupils are round, regular, and reactive to light with no relative afferent pupillary defect (RAPD). Using the measurement of meters (6/6 is the equivalent of 20/20 using US customary units of feet), visual acuity is 6/6, with normal fundi and no field defects.

Figure 1.

Figure 2.

His neck is supple. Increased tone is noted in his lower limbs, with grade 3 reflexes and flexor plantar response. Bulk, power, and sensory examination findings are normal. Upper limb examination findings are normal. Coarse horizontal nystagmus is noted, and heel-knee-shin and finger-to-nose coordination is impaired on left side. Cranial nerve examination reveals bilateral lateral rectus, and a lower motor neuron type left facial palsy (Figures 1 and 2). The rest of the cranial nerves, including CN VIII, IX, and X, are intact and symmetric.

Auscultation of the chest reveals normal vesicular breathing, and heart sounds are normal on precordial examination with no murmurs. He has a soft, nontender abdomen, with audible bowel sounds and no evidence of free fluid or organomegaly.

The laboratory analysis reveals a normal complete blood cell count, sedimentation rate, and negative antinuclear antibody and rheumatoid factor findings. His liver function test findings show a raised alkaline phosphatase with normal bilirubin and amino transferase levels. His renal function test results, serum electrolyte levels, and serum glucose and serum lactate levels are within normal limits. His serum calcium and phosphorus levels are normal, as are urinary calcium and parathyroid hormone levels. Vitamin D deficiency is noted, with levels of less than 3 ng/mL. Chest radiography and ECG findings are unremarkable.

Figure 3.

Figure 4.

Figure 5.

Bone density scanning reveals osteoporosis, with a T-score of -4.9 SD in the lumbar spine. Bone scan findings are suggestive of osteoporotic fractures, with low likelihood of metastasis (Figure 3). MRI of the brain with contrast reveals superiorly displaced basiocciput, with dens of C2 projecting 21 mm above the Chamberlain line and upward migration of the cervical cord and foramen magnum into the cranial cavity (Figures 4 and 5).


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