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Hallervorden-Spatz disease in an adult patient
J Dymecki1, E Bertrand, Z Tomankiewicz
1Department of Neuropathology, Institute of Psychiatry and Neurology, Warszawa.
Insights
Hallervorden-Spatz disease (HSD) is a rare inherited neurodegenerative disorder. This case highlights adult-onset HSD with characteristic iron deposits in the basal ganglia.
Area of Science:
- Neuroscience
- Genetics
- Pathology
Background:
- Hallervorden-Spatz disease (HSD) is an extremely rare, inherited, autosomal recessive neurodegenerative disorder.
- While typically presenting in childhood, adult-onset HSD is exceptionally scarce.
- The gene responsible for HSD has recently been localized to chromosome 20p12.3-p13.
Observation:
- A 26-year-old woman developed a progressive psycho-organic syndrome, muscular rigidity, involuntary movements, and dysarthria.
- Initial diagnoses included multiple sclerosis, amyotrophic lateral sclerosis, and Huntington's disease.
- MRI revealed decreased signal in the basal ganglia preceding death at age 34.
Findings:
- Autopsy showed symmetric hyperpigmentation and abundant iron-positive pigment deposits in the globus pallidus (GP) and substantia nigra (SN).
- Microscopic examination revealed spheroids in the basal ganglia, mesencephalon, and medulla oblongata, along with Lewy bodies in the SN.
- Neuropathological findings confirmed a diagnosis of Hallervorden-Spatz disease.
Implications:
- This case underscores the importance of considering HSD in adult-onset neurodegenerative disorders with basal ganglia involvement.
- The characteristic neuropathological findings, particularly iron accumulation, are crucial for diagnosis.
- Further research into the genetic and molecular mechanisms of HSD may improve diagnostic and therapeutic strategies.
Abstract:
Hallervorden-Spatz disease (HSD) is an extremely rare degenerative process. The familial studies point to inherited, autosomal recessive neurodegenerative disorder. Quite recently this disease gene has been identified to chromosome 20p12.3-p13. Clinical manifestations of HSD leading to death after several years of illness are most frequently observed in childhood. HSD in adults is very scarce. The case reported concerns a woman who at the age of 26 years began to suffer from slowly progressing psycho-organic syndrome with muscular rigidity, involuntary movements and dysarthria. The patient was hospitalized several times with successive diagnoses of multiple sclerosis, amyotrophic lateral sclerosis and Huntington's disease. Shortly before death magnetic resonance imaging (MRI) scan showed a decreased signal in both basal ganglia. The patient died at the age of 34 years after an eight-year illness. In the brain autopsy symmetric hyperpigmentation of globus pallidus (GP) and reticular part of substantia nigra (SN) was found. The microscopic observation revealed abundant deposits of brown pigment mostly in GP and SN. In addition, numerous spheroids disseminated in the basal ganglia, mesencephalon and medulla oblongata, as well as Lewy bodies in SN were noted. Pigment deposits expressed intensive iron positive reaction by Perls' Prussian-blue method. Based on the described neuropathological changes occurring mostly in GP and SN, Hallervorden-Spatz disease was diagnosed.