A 12-year-old boy with a known case of trisomy 21 was brought to our institution by his parents because of a 3-month history of right-sided weakness and focal seizures not associated with loss of consciousness. The boy had a history of headache but no fever, vomiting, or weight loss. He had no history of contact with a patient with tuberculosis, and he had received all his vaccines, including the bacillus Calmette-Guérin vaccine. The parents reported that their child had a history of multiple abdominal and cervical swellings that had been biopsied 1 year previously, but the biopsy result was inconclusive.

Examination

Clinical examination of the boy revealed that he had features consistent with trisomy 21; all of his anthropometric measurements (height, weight, and head circumference) were below the third percentile for age and sex, which is the expected finding in this child owing to short stature being associated with trisomy 21.  All his vital signs were normal. He had variable cervical and abdominal lymph nodes, which were firm but not tender. His general system examination was normal. A CNS examination of the right upper and lower limbs showed a hemiplegic gait, increased tone, brisk reflexes and upgoing toe. Otherwise, the boy had intact higher functions and cranial nerves as well as a normal fundal examination result.

 

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