Hallervorden-Spatz Disease

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.

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

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

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).

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.

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

Progressive rigidity, first in the lower and then in the upper limbs. Equinovarus deformity of the feet with walking difficulties. Involuntary choreoathetoid movements. Cranial nerves involved with chewing and swallowing difficulties. Torticollis and scoliosis. 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.

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.

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 face-mask 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, scoliosis, and oromandibular muscular rigidity disappear. However, following a long course of dystonic attacks and muscle rigidity, musculoskeletal deformations become fixed. Usual treatment should not be discontinued and should be resumed during the immediate postoperative period through a nasogastric tube. Signs of basal ganglias dysfunction (chorea, athetosis, and rigidity) reappear on emergence. Aspiration pneumonitis occurs easily. In the most severe situation, maintenance of postoperative mechanical ventilation might be indicated for better pain control management.

Because of diffuse axonal changes and muscular denervation, hyperkalemic cardiac arrest following succinylcholine is a possibility. No problems related to inhalational anesthetics. Patients often receive antiparkinson agents and/or anticholinergics and benzodiazepines, which often interact with anesthetic agents. These interactions should be carefully considered throughout the perioperative period.

HARP Syndrome: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (could be a variant of Hallervorden-Spatz disease).

Huntington Chorea (HC): Autosomal dominant neurodegenerative disorder characterized by involuntary (choreiform) movements and slowly progressive dementia, leading to death 15 to 20 years after the first clinical symptoms.

Neuroacanthocytosis: Progressive neurodegenerative disease characterized by abnormal movements, seizures, cognitive deterioration, personality changes, and axonal neuropathy. At some point during the course of the disease, patients have acanthocytosis on peripheral blood smear.

Neuronal Ceroid Lipofuscinoses: Group of neurogenetic (lysosomal) storage diseases characterized by seizures, progressive dementia, visual loss, and cerebral atrophy.