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
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
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 ...