| Case 6 |
| History: | |
| 10 year old female. | |
| Seen in Pediatric Neurology for evaluation of difficulty with speech, lack of coordination, and decreased school performance. |
| Parents stated that development had seemed "normal" until kindergarten, when it became evident that she was a "slow learner" and had difficulty speaking clearly. By second grade, her mental and physical capabilities appeared to be progressively deteriorating, and she could no longer keep up with her peers in a regular classroom. Her special education teachers suggested medical evaluation. | |
| She had 4 siblings, ages 8 to 19 years, all in good health. |
| Physical Exam: | |
| Her neurologic exam showed significant abnormalities, including slow, slurred speech, general hypotonia, and difficulty in both fine motor skills and coordination. | |
| She also had moderate splenomegaly. |
| RBC 5.57 x 10[12]/L | |
| HGB 14.6 g/dL | |
| HCT 42.6 % | |
| MCV 76.5 fL | |
| MCH 26.2 pg | |
| MCHC 34.3 g/dL | |
| WBC 7.0 x 10[9]/L) N 72 % L 23 M 4 E 1 B 0( | |
| PLT 108 x 10[9]/L |
| Questions |