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Life-threatening neurological syndrome in Down's syndrome.

Accepted 19 November 1997 This 19-year-old girl was the full-term product of an uncomplicated pregnancy and normal delivery, diagnosed at birth as having Down's syndrome (karyotype: 47, +21). Developmental milestones were mildly delayed, she had characteristic phenotype, an uncorrected atrial septal defect, and mild mental retardation. She showed excellent sitting balance and walked with both hands held high. At age seven years, routine blood tests and screening X-rays were unremarkable. At age nine years, due to her progressing hypotonia, she was enrolled in a special school that emphasized head, neck and trunk patterning. Within a year after enrolment, progressive neck pain, increased fatiguability on walking, and impaired gait were noted. Neurological examination at the age of 10 years revealed lower limb weakness, patellar hyperreflexia, up-going toes, calcanear clonus, impaired gait with spasticity and proneness to fall, and gross motor uncoordination. Routine blood tests were normal; neck radiography showed an anterior arch-odontoid distance ranging from >6.0 mm in neutral position to 12 mm during flexion. Magnetic resonance imaging (MRI) of the brain and spinal cord (figure) was carried out. After this diagnostic procedure the patient's family declined treatment because of ongoing complex medical problems, including recurrent pneumonia and insulin-dependent diabetes mellitus. Within two years there was increased loss of ambulation and ofbowel and bladder function; progressive spasticity, weakness and neuroFigure Tl-weighted sagittal MRI scan of patient at muscular scoliosis ensued. She was confined to age 10 years