Quiz page. Fanconi syndrome caused by cystinosis, intermediate type.

摘要

A 33-year-old school teacher with no significant medical history or medication use presented with 3 months of lower back pain, proximal muscle weakness that limited his ability to stand, urinary frequency, and nocturia. Although denying dry mouth, dry eyes, or polydipsia, he describes frequent photophobia during this period. There was no blepharo-spasm, tearing, or decreased vision. On physical examination, blood pressure was 110/70 mm Hg and pulse rate was 72 beats/min. He had tenderness over his ribs bilaterally and painful restriction to flexion and extension of the ankle and knee joints. Proximal muscle strength in the upper and lower limbs was 4/5, deep tendon reflexes were present as a normal ankle jerk, superficial reflexes were normal, and there was no sensory deficit. Laboratory studies are listed in Table 1; in addition, serological tests for antinuclear antibodies and antibodies Ro and La were negative. ' An ultrasound of the abdomen showed kidney sizes of 9.8 X 4.5 cm (right) and 9.6 X 4.3 cm (left); there was normal echo texture and corticomedullary differentiation.