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At a glance

Neurodegenerative disorder characterized by dwarfism, gargoyle facies, myoclonic seizures, progressive neurologic dysfunction (dementia and ataxia), and macular cherry-red spots. The anesthetic implications of patients with galactosialidosis are similar to those with other well documented mucopolysaccharidoses.

Synonyms

Deficiency of Cathepsin; Goldberg Syndrome; Neuraminidase Deficiency with Beta-Galactosidase Deficiency; Neuraminidase/Beta-Galactosidase Expression (NGBE); PPCA Deficiency; Beta-Galactosidase Protective Protein Deficiency.

Nature

Inborn error of metabolism. Lysosomal storage disease belongs to a larger group of progressive myoclonus epilepsy syndromes.

Incidence

Approximately 70 cases have been described worldwide. The majority of patients are of Japanese origin.

Genetic inheritance

Autosomal recessive. The gene is mapped to chromosome 20q13.1. Predominance in populations of Japanese origin is reported. There is an equal distribution between males and females.

Pathophysiology

Lysosomal storage disease associated with combined deficiency of beta-galactosidase and neuraminidase. Characterized by a deficiency of a protein (cathepsin) that is essential for the catalytic activity of alpha-N-acetyl-neuraminidase and normally protects beta-galactosidase from degradation. Lack of cathepsin A protection results in proteolysis and deficiency of these two enzymes, which, in turn, causes accumulation of lysosomal mucopolysaccharide. Accumulation of sialyloligosaccharides and sialylglycopeptides in lymphocytes, fibroblasts, bone marrow cells, Kupffer cells, and Schwann cells.

Diagnosis

Combined enzyme deficiency demonstrable in lymphocytes or cultured skin fibroblasts. Sialyloligosaccharides/sialylglycopeptides are detected by (1) light microscopy as periodic acid–Schiff-positive inclusions (vacuolations) within cells throughout the body and (2) thin layer chromatography in urine. Prenatal diagnosis is available (deficiency of alpha-N-acetylneuraminidase and beta-galactosidase activities in cultured chorionic villi or amniocytes).

Clinical aspects

In all forms, coarsened facial features, vertebral anomalies, and often bilateral macular cherry-red spots result in progressive loss of vision. Infantile form presents with fetal hydrops, or with death from renal and cardiac failure in infancy. Late infantile form has better prognosis. Hepatosplenomegaly and valvular heart disease are common in this form. The majority of patients have juvenile/adult form of galactosialidosis. Features include spinal deformities, myoclonus, ataxia, seizures, mental retardation, and hearing loss.

Precautions before anesthesia

Assess neurologic status (myoclonus and seizures), cardiac status (may have cardiac failure or valvular heart disease), airway (potentially difficult tracheal intubation), and renal function. Also, because late infantile and juvenile/adult galactosialidosis are slowly progressive, patients with these subtypes often require surgery because of the skeletal and soft tissue manifestations of their disease.

Anesthetic considerations

This lysosomal storage disease was associated with concurrent airway, orthopedic, and cardiac abnormalities. In the more common juvenile/adult form, attention should be directed toward potential airway anomalies and skeletal deformities. Airway difficulties should be anticipated in this patient population. Airway management must be prepared in case of unexpected difficult airway instrumentation. To this extend, ...

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