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At a glance

A very rare autosomal recessive lysosomal storage disease characterized by accumulation of glycosphingolipids in many tissues, which lead to neurological and ophthalmic lesions and to frequent, severe, pulmonary infections.

Synonyms

N-acetyl-α-D-Galactosaminidase (NAGA); Schindler Disease; Kanzaki Disease.

Incidence

Very rare (fewer than 20 cases reported).

Genetic inheritance

Autosomal recessive.

Pathophysiology

Caused by mutation of gene α-N-acetylgalactosaminidase (α-GalNAc) located on 22q11. In individuals with Schindler disease, deficiency of the α-NAGA enzyme leads to an abnormal accumulation of certain complex compounds (glycosphingolipids) in many tissues of the body. It is classified among Oligosaccharides or glycoproteinoses.

Diagnosis

Clinical evocation is difficult because the disorder is clinically heterogeneous.

  • The infantile form of Schindler Disease has an onset that occurs by the end of the first year of life. It is characterized by progressive hypotonia, extrapyramidal signs, and rapid psychomotor regression (as a result of abnormal lipid storage in nervous system). Death occurs within the first decade.

  • The adult form (Kanzaki Disease) is characterized by the presence of angiokeratomas (abnormal lipid storage in the vessels) and moderate mental retardation. Certitude diagnosis is biological: characteristic profile on the chromatography of urinary oligosaccharides, confirmed by the measurement of the α-N-acetylgalactosaminidase activity in leukocytes, fibroblasts, amniocytes, or trophoblasts.

Clinical aspects

In the infantile form, there is increasing neurological impairment, with progressive hypotonia, spasticity, no voluntary movements, decorticating posture, symmetric hyperreflexia, profound psychomotor retardation, and seizures by the age of 3 to 4 years. Other clinical features include ophthalmologic manifestations: bilateral optic atrophy, cortical blindness, nystagmus, and strabismus. Severe respiratory infections occur.

Precautions before anesthesia

Evaluate neurological status (clinical, CT/MRI, EEG, somatosensory evoked potentials) and muscular atrophy caused by nerve denervation (clinical). Assess respiratory function with chest radiograph.

Anesthetic considerations

Intraoperative positioning must be done carefully because of the severe spasticity. Patients affected with active pulmonary infections should be postponed when possible. The presence of residual respiratory tract infection should not be disregarded because the perioperative incidence of complications is very high.

Pharmacological implications

Avoid succinylcholine because of the association of nerve demyelination and amyotrophic changes. The risk of hyperkalemia and sudden cardiac arrest is significant. Epileptic treatment has to be given the day of anesthesia. Consider anesthetic and antiepileptic drugs interactions.

Other conditions to be considered

  • Seitelberger Syndrome: Rare inherited disorder characterized by the progressive degeneration of the central nervous system. Individuals affected with this disorder develop normally within the first 6 months to 2 years of age, at which time ...

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