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Neuroaxonal dystrophy at birth with hypertonicity and basal ganglia mineralization
S Venkatesh1, D L Coulter, T D Kemper
1Department of Neurology, Boston City Hospital, Boston University School of Medicine, MA 02118.
Insights
This case study details a rare form of neuroaxonal dystrophy in an infant, characterized by severe hypertonia and basal ganglia mineralization, leading to rapid decline and death.
Area of Science:
- Pediatric Neurology
- Neurodegenerative Diseases
- Developmental Neuroscience
Background:
- Neuroaxonal dystrophy is a group of rare inherited neurodegenerative disorders.
- Typical presentations involve progressive motor impairment and cognitive decline, often with onset in early childhood.
- Infantile forms are less common and present unique diagnostic challenges.
Observation:
- A full-term infant presented with severe generalized rigidity and hyperreflexia from birth.
- Normal metabolic, electrophysiological, and initial imaging studies were observed.
- Distinct sleep-wake cycles and sensory responsiveness developed despite severe motor symptoms.
Findings:
- Head imaging revealed basal ganglia and thalamic mineralization.
- Muscle and nerve biopsies indicated axonal dystrophy.
- Autopsy confirmed widespread neuronal loss, gliosis, spheroids, and mineralized neurons, particularly in the basal ganglia and brainstem.
Implications:
- This case highlights unusual features of infantile neuroaxonal dystrophy, including neonatal onset hypertonia and basal ganglia mineralization.
- The findings expand the understanding of the phenotypic spectrum and pathological characteristics of neuroaxonal dystrophy.
- Further research into the genetic and molecular underpinnings of these atypical presentations is warranted.
Abstract:
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.