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At a glance

Inherited disorder characterized by progressive degeneration of the nervous system caused by iron deposition in basal ganglia. Most commonly begins in childhood as a dystonic syndrome. Other clinical features include distorting muscle contractions of the face, limbs, and trunk, choreoathetosis, muscle rigidity, spasticity, seizures, and dementia. Less common symptoms include painful muscle spasms, mental retardation, and visual impairment.

Synonyms

Neurodegeneration Brain Iron Accumulation Syndrome; Late Infantile Neuroaxonal Dystrophy; Pantothenate Kinase-Associated Neurodegeneration.

Incidence

Very rare condition. Fewer than 100 cases described. No racial or sex predominance.

Genetic inheritance

The disease can be familial or sporadic. When familial, it is an autosomal recessive trait linked to chromosome 20 (gene map locus is 20p13-p12.3).

Pathophysiology

Not clearly established. The key factors seem to be an abnormal peroxidation of lipofuscin to neuromelanin and deficient cysteine dioxygenase, which result in iron accumulation in the brain. Whether the deposition of iron in basal ganglia in Hallervorden-Spatz disease is the cause or the consequence of neuronal loss and gliosis is not clear. A mutation in the PANK2 gene (20p13) resulting in deficiency of pantothenate kinase may cause accumulation of cysteine, which can cause chelation of iron in the globus pallidus and produce neurotoxic-free radicals.

Diagnosis

No biochemical markers yet found. The presence of abnormal cytosomes, including fingerprint, granular, and multilaminated bodies (suggesting the presence of ceroid lipofuscin), are characteristics when associated with bone marrow histiocytes and peripheral lymphocytes. Currently, the diagnosis can be ascertained only by histologic findings (postmortem).

Clinical aspects

Progressive rigidity, first in the lower and then in the upper limbs. The equinovarus deformities of the feet are associated with walking difficulties. Involuntary choreoathetoid movements are also a characteristic. Cranial nerves involved with chewing and swallowing difficulties. Torticollis and scoliosis may be present. Oromandibular rigidity makes airway assessment difficult followed by dysarthria, epilepsy, and dementia. Onset occurs at 5 to 15 years of age, with death within 10 years following the diagnosis. At autopsy, brown coloration of the substantia nigra is seen.

Precautions before anesthesia

Proper evaluation of the airways and pulmonary function must be obtained, when feasible. Patients affected with this condition often receive chronic myorelaxant medication, which must be continued until the day of the operation. The use of an antisialagogue agent must also be considered.

Anesthetic considerations

Because of unpredictable and potentially difficult airway management, a spontaneous ventilation technique is recommended (however, because of choreoathetoid movements and muscle rigidity, neuromuscular blockade may often be needed, thus requiring tracheal intubation with assisted facemask ventilation). However, before administration of neuromuscular blocking agents, ensure that lung ventilation can be supported by face-mask ventilation. With deepening of anesthesia, the torticollis, ...

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