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Neurodegenerative disorder characterized by dwarfism, gargoyle facies, myoclonic seizures, progressive neurologic dysfunction (dementia and ataxia), and macular cherry-red spots.

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

Inborn error of metabolism. Lysosomal storage disease belonging to the group of progressive myoclonus epilepsies.

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

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

Lysosomal storage disease associated with combined deficiency of beta-galactosidase and neuraminidase. Deficiency of a protein (cathepsin) that is essential for the catalytic activity of alpha-N-acetyl-neuraminidase and normally protects beta-galactosidase from degradation. Accumulation of sialyloligosaccharides and sialylglycopeptides in lymphocytes, fibroblasts, bone marrow cells, Kupffer cells, and Schwann cells.

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).

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.

Assess neurologic status (myoclonus and seizures), cardiac status (may have cardiac failure or valvular heart disease), airway (potentially difficult tracheal intubation), and renal function.

Anesthetic management has not been described but depends upon systemic manifestations of the disease. In the more common juvenile/adult form, attention should be directed toward potential airway anomalies and skeletal deformities. The presence of renal or cardiac dysfunction requires appropriate precautions in infantile forms. The association with myoclonic seizures and anesthetic medications potentially able to trigger seizure must be avoided.

Agents that might precipitate seizures, such as ketamine, enflurane, and methohexital, should be avoided. Seizure medications should be continued until the day of surgery when an intravenous anticonvulsant should be administered. Antibiotic prophylaxis as indicated in case of cardiopathy.

Sialidosis: Lysosomal storage disease caused by a deficiency of the enzyme alpha-neuraminidase resulting in tissue accumulation of mucopolysaccharides and mucolipids, resulting in the development (usually in the second decade) of red macules in the eyes, myoclonus, mild seizures, Hurler-like facies, skeletal dysplasia, psychomotor retardation, and normal excretion of urinary mucopolysaccharides. Autosomal recessive; gene map locus is 6p21.

Gangliosidosis (GM1) Type I: Autosomal recessive lysosomal storage disease characterized by coarse facies and progressive neurodegeneration caused ...

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