A very rare degenerative encephalopathy with
associated visceral malformations. Demyelinating disease with early onset
and absence of stainable myelin. The affected child is normal at birth and
development is normal until 2 years of age. Motor dysfunction manifests
by difficulty standing and walking, progressive deterioration of
neurological function and speech, nystagmus, strabismus, blindness,
seizures, and areflexia.
Infantile Neuroaxonal Dystrophy.
Autosomal recessive but because of the low
incidence of carriers, cases may appear as sporadic.
Unknown. Investigations show a progressive
degenerative encephalopathy, with axonal swelling and spheroid axonal
Usually based on the clinical criteria. At autopsy,
spheroid bodies are widely distributed, particularly in the hypothalamus,
infundibulum, and neurohypophysis, and in the mesenteric plexus of the
Degenerative encephalopathy associated with
mental retardation, weakness with hypotonia, generalized seizures, and myoclonic
epilepsy. Other clinical signs include a lack of tears with dry keratitis. Endocrine
investigations shows hypothalamus-pituitary dysfunction with central
hypothyroidism, diabetes insipidus, and central thermoregulation problems.
The clinical picture is similar but not identical to Hallervorden-Spatz
Check airways and pulmonary function
carefully. Because patients present with a decrease in respiratory drive, a complete
medical history and observation of breathing pattern must be obtained. Often these patients
use myorelaxing medication, such as benzodiazepines. Continue myorelaxing medication until
the operation. The use of anticholinergics must be considered to reduce saliva production.
Because of an unpredictable and potentially
difficult airway, it is recommended to maintain spontaneous ventilation. With deep
anesthesia, the torticollis, scoliosis, and oromandibular muscular rigidity disappear.
However with long-lasting musculoskeletal deformation, bone and joint changes may fix
these deformities and prevent the relaxation. Signs of basal ganglias dysfunction (chorea,
athetosis, and rigidity) reappear on emergence. Very poor airway control. Aspiration
pneumonitis occurs easily. The potential for postoperative mechanical ventilation is high
and proper preoperative arrangement must be obtained from the intensive care unit. A
disorder in temperature regulation is often present.
Because of diffuse axonal changes and
muscular denervation, hyperkalemic cardiac arrest following the administration of
succinylcholine is possible. No problems related to inhalational anesthetics have been
described. Do not discontinue regular medications, and during the immediate
postoperative period, give the medications through a nasogastric tube if
Pelizaeus-Merzbacher Syndrome: Sudanophilic
leukodystrophy or leukoencephalopathy, which usually affects only males. It
is a chronic disease of the central nervous system with onset early in the infancy period,
and which might persist for decades. It is characterized by rotary nystagmus,
ataxia, intention tremor, spasticity, and dementia. Autosomal recessive
inheritance. There is a second, congenital, autosomal recessive form with
late onset (adulthood) associated with a faster course marked by
photosensitivity of the skin, dwarfism, cerebellar ataxia, corticospinal
signs, cataracts, deafness, and retinitis pigmentosa.
Hallervorden-Spatz Disease: Progressive
degeneration of the globus pallidus, red nucleus, and reticular part of the
substantia nigra of the brain. Characterized by progressive Parkinson-like