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Journal of Child Neurology
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Neuroaxonal Dystrophy at Birth With Hypertonicity and Basal Ganglia Mineralization

Swamy Venkatesh, MD

Department of Neurology, Boston City Hospital, Boston University School of Medicine, Boston, MA

David L. Coulter, MD

Department of Neurology, Boston City Hospital, Boston University School of Medicine, Boston, MA, Department of Pediatrics, Boston City Hospital, Boston University School of Medicine, Boston, MA

Thomas D. Kemper, MD

Department of Neurology, Boston City Hospital, Boston University School of Medicine, Boston, MA, Department of Neuropathology Boston City Hospital, Boston University School of Medicine, Boston, MA

A full-term male infant exhibited rigidity of all extremities with hyperreflexia beginning soon after birth and lasting until his death at age 6 months. Head circumference remained at the 25th to 50th percentile. Distinct sleep-wake cycles and responsiveness to visual, auditory, and tactile stimuli developed. Metabolic studies, skin biopsy, electroencephalography, and electromyography produced normal results. Head computed tomographic and magnetic resonance imaging scans revealed mineralization of the basal ganglia and thalamus. Muscle and nerve biopsy results were consistent with axonal dystrophy. Autopsy showed widespread neuronal loss, with reactive gliosis, marked in the globus pallidus and brainstem reticulate core; spheroids in globus pallidus, nucleus cuneatus, and upper cervical cord; and mineralized neurons in the inner division of globus pallidus and thalamus. Neonatal hypertonia, rapid progression, and mineralization of the basal ganglia are unusual features of neuroaxonal dystrophy exhibited in this case. (J Child Neurol 1994;9:74-76).

Journal of Child Neurology, Vol. 9, No. 1, 74-76 (1994)
DOI: 10.1177/088307389400900119
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