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At a glance

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, optical atrophy, seizures, and areflexia.

Synonym

Infantile Neuroaxonal Dystrophy.

Genetic inheritance

Autosomal recessive.

Pathophysiology

Mutation of PLA2G6 gene (22q12-q13) which encodes the Ca independent phospholipase A2 leading to accumulation of intracellular iron.

Diagnosis

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 colon.

Clinical aspects

Degenerative encephalopathy associated with progressive mental retardation, weakness with hypotonia, generalized seizures, and myoclonic epilepsy. Other clinical signs include a lack of tears with dry keratitis. Endocrine investigations show hypothalamus-pituitary dysfunction with central hypothyroidism, diabetes insipidus, and central thermoregulation problems. The clinical picture is similar but not identical to Hallervorden-Spatz disease. Poor prognosis beyond adolescence.

Precautions before anesthesia

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.

Anesthetic considerations

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 intensive care facilities must be available. A disorder in temperature regulation is often present.

Pharmacological implications

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 needed.

Other conditions to be considered

  • 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 ...

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