An 8-year-old boy with gait disturbance and the rapid increase of muscle tonus

Abstract

The patient is an 8-year-old boy with gait disturbance and rapid increase of muscle tonus. He was born uneventfully at 40 weeks gestation and weighed 3120 g. He was able to walk alone at the age of 18 months, but speech was delayed until 24 months. At 3 years, his speech became unclear and he began to fall frequently. At 6 years, he entered to an ordinary class at elementary school, and was able to run, walk down stairs using a handrail, as well as read, write and calculate normally. Walking disturbance with pes equinovarus and clumsy hands began at 7 years of age. By 8 years he was unable to walk and was referred to our hospital.Neurological examination revealed a dystonic posture, athetotic movements, hyper-reflexia in the lower extremities and positive Babinski reflex. His speech was slurred and an articulation disturbance was noted. In addition, his swallowing was interrupted.His clinical course worsened, with his dystonia, athetosis and opistotonic posture becoming aggravated at 3 months after admission to the hospital. He expired at the age of 8 years and 10 months because of choking on sputum.Laboratory examination on admission revealed that complete blood count and blood chemistry were within normal ranges, including 52.3 mg/dL Fe, 108.2 mg/dL Cu, 38.2 mg/dL ceruloplasmin, 6.4 m/dL lactate and 0.27 mg/dL pyruvate. CSF showed no cell count, 12.7 mg/dL total protein and 59 m/dL sugar. Serum amino acid analysis, WBC and a lysosomal enzyme assay of eight enzymes were within normal ranges. Nerve conduction velocity and needle electromyograph were normal. Electroencephalography showed a dysrythmic awake pattern and no paroxysmal discharges. His intelligence quotient was 67 by the Tanaka Binet test. Fundoscopy showed a retinal pigment degeneration. CT scan revealed no abnormalities in the cerebral cortex and white matter, but symmetrical speckled high densities in the bilateral basal ganglia (Fig. 1). No MRI findings were available. NEUROPATHOLOGICAL FINDINGSAt autopsy, the brain weighed 1096 g, less than the expected weight of 1350 g. The brain was atrophic proportionally and each cerebral gyrus was preserved. On section, there was brown discoloration of the medial part of the internal segment of the globus pallidus (Fig. 2). The dark tone in the bilateral substantia nigra was normal. Fig. 1 CT scan of the patient at 8 years of age. CT scan shows symmetrical bilateral speckled high densities in the globus pallidus, although the cerebral cortex and white matter are normal.