Description, Causes and Risk Factors:

A neuronal storage disorder in children characterized by a cherry-red spot at the macula, progressive myoclonus, and easily controlled seizures; the result of sialidase deficiency.

Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. Sialidosis affects males and females in equal numbers. The exact incidence of sialidosis in the general population is unknown. One estimate places the incidence at 1 in 4.2 million individuals overall. Another estimate placed the incidence at 1-4 individuals per 200,000 of the general population. Because rare disorders like sialidosis often go unrecognized or misdiagnosed, determining the true frequency of sialidosis in the general population is difficult.

This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features.

Sialidosis type I is the less severe form of this condition. People with type I develop signs and symptoms of sialidosis in their teens or twenties. Initially, affected individuals experience problems walking (gait disturbance) and/or a loss of sharp vision (reduced visual acuity). Individuals with sialidosis type I also experience muscle twitches (myoclonus), difficulty coordinating movements (ataxia), leg tremors, and seizures. The myoclonus worsens over time, causing difficulty sitting, standing, or walking. People with sialidosis type I eventually require wheelchair assistance. Affected individuals have progressive vision problems, including impaired color vision or night blindness. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Sialidosis type I does not affect intelligence or life expectancy.

Sialidosis type II, the more severe type of the disorder, is further divided into congenital, infantile, and juvenile forms. The features of congenital sialidosis type II can develop before birth. This form of sialidosis is associated with an abnormal buildup of fluid in the abdominal cavity (ascites) or widespread swelling before birth caused by fluid accumulation (hydrops fetalis). Affected infants may also have an enlarged liver and spleen (hepatosplenomegaly), abnormal bone development (dysostosis multiplex), and distinctive facial features that are often described as "coarse." As a result of these serious health problems, individuals with congenital sialidosis type II usually are stillborn or die soon after birth.

Infantile sialidosis type II shares some features with the congenital form, although the signs and symptoms are slightly less severe and begin within the first year of life. Features of the infantile form include hepatosplenomegaly, dysostosis multiplex, "coarse" facial features, short stature, and intellectual disability. As children with infantile sialidosis type II get older, they may develop myoclonus and cherry-red spots. Other signs and symptoms include hearing loss, overgrowth of the gums (gingival hyperplasia), and widely spaced teeth. Affected individuals may survive into childhood or adolescence.

The juvenile form has the least severe signs and symptoms of the different forms of sialidosis type II. Features of this condition usually appear in late childhood and may include mildly "coarse" facial features, mild bone abnormalities, cherry-red spots, myoclonus, intellectual disability, and dark red spots on the skin (angiokeratomas). The life expectancy of individuals with juvenile sialidosis type II varies depending on the severity of symptoms.

Mutations in the NEU1 gene cause sialidosis. This gene provides instructions for making an enzyme called neuraminidase 1 (NEU1), which is found in lysosomes. Lysosomes are compartments within the cell that use enzymes to digest and recycle materials. The NEU1 enzyme helps break down large sugar molecules attached to certain proteins by removing a substance known as sialic acid.

Mutations in the NEU1 gene lead to a shortage (deficiency) of the NEU1 enzyme. When this enzyme is lacking, sialic acid-containing compounds accumulate inside lysosomes. People with sialidosis type II have mutations that severely reduce or eliminate NEU1 enzyme activity. Individuals with sialidosis type I have mutations that result in some functional NEU1 enzyme. It is unclear exactly how the accumulation of large molecules within lysosomes leads to the signs and symptoms of sialidosis.

This condition is often inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.


Symptoms may include:

    Walking gait.

  • Vision abnormalities.

  • Cherry red macules.

  • Night blindness.

  • Clouding of the cornea.

  • Seizures.

  • Hyperreflexia.

  • Ataxia.

  • Myoclonus.

  • Hepatomegaly.

  • Splenomegaly.

  • Coarse facial features.

  • Cognitive impairment.

  • Bone deformities.

  • Calvaria.

  • Enlarged skull.

  • Widely spaced teeth.

  • Abnormalities of the ribs and pelvic bone.

  • Flattened bridge of the nose.

  • Short stature.

  • Ascites.


Definitive diagnosis of sialidosis is made by demonstrating a deficiency of alpha-N-acetyl neuraminidase activity, which can be measured in aminocytes, leukocytes, and cultured fibroblast. Detection of abnormal pattern of urinary oligosaccharides can be used as an initial screening test.

The characteristic bone changes are similar to but not as severe as those observed in the mucopolysaccharidoses. The classic radiographic finding is dysostosis multiplex. This may be observed as anterior beaking of the vertebral bodies, widening of the ribs, hypoplastic ilia, and expanded metacarpal and phalangeal shafts. Radiographs obtained early in the course of the disease may reveal only stippling of the epiphyses.

For families with a previous history of sialidosis, prenatal diagnosis is available through amniocentesis. During amniocentesis, samples of fluid surrounding the fetus are removed. Fetal tissue samples may be obtained during a procedure known as chorionic villus sampling. Certain cells (fibroblasts) are cultured grown in the laboratory and evaluated for alpha-neuraminidase activity.


Treatment options for sialidosis remain limited and are primarily directed at supportive care and symptomatic relief. Efforts should be made to maximize overall health maintenance, providing adequate nutrition and seizure control if necessary. Myoclonic seizures often prove difficult to treat with anticonvulsant medication.

NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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