It has three forms of presentation, which makes its identification even more challenging due to the wide clinical spectrum. The present study aims to describe a case of GM1 gangliosidosis in a male patient, born at 38 weeks. [scielo.br]

The severity of symptoms and the time at which they first present can vary greatly in GM1 gangliosidosis. [childrenshospital.org]

Only the infantile form has the typical cherry red spot in the macula but is present in only about 50% of infants. [disorders.eyes.arizona.edu]

Age The infantile form (type 1) of GM1 gangliosidosis typically presents from birth to age 6 months, the juvenile form (type 2) typically presents in children aged 1-3 years, and the adult form (type 3) typically presents during childhood or adolescence [emedicine.medscape.com]

Typical zebra bodies werefound in cells of the dorsal-rootganglions. β-galactosidase activity was present but decreased in liver and brain from the affected fetus, whereas sphingomyelinase activity was increased two to six times that in controls. [nejm.org]

• Failure to Thrive

  Early symptoms include poor appetite, weak suck and failure to thrive. Only about 50% of cases display the cherry-red spot in the back of the eye. [ntsad.org]

  The symptoms appear shortly after birth; they include retarded psychomotor development, failure to thrive, startle reaction to sounds, feeding difficulty, hepatosplenomegaly, hurler (gargoyle-like) facies (coarse facial features, macrocephaly, broad nose [icd10data.com]

  Early psychomotor deterioration: decreased activity and lethargy in the first weeks; never sit; feeding problems - failure to thrive; visual failure (nystagmus noted) by 6 months; initial hypotonia; later spasticity with pyramidal signs; secondary microcephaly [en.wikipedia.org]

• Hirsutism

  Hirsutism, coarse skin, short digits, and inguinal hernias are common. The juvenile form, type II, has a later onset with psychomotor deterioration, seizures and skeletal changes apparent between 7 and 36 months and death in childhood. [disorders.eyes.arizona.edu]

  Niemann-Pick disease, Krabbe disease, Tay-Sachs disease) Optic atrophy Corneal clouding Dysmorphic features Frontal bossing Depressed nasal bridge and broad nasal tip Large low-set ears Long philtrum Gingival hypertrophy and macroglossia 8) Coarse skin Hirsutism [healthjade.net]

  The infantile form is characterized by muscle hypotonia, poor psychomotor development, hirsutism, hepatosplenomegaly, and facial abnormalities. The juvenile form features hyperacusis; seizures; and psychomotor retardation. [icd10data.com]

  In addition to the skin lesions, the infant had coarse facial features with palpebral oedema, strabismus, low nasal bridge, broad nose, long philtrum, gingival hypertrophy, short neck, hepatomegaly and hirsutism. [medicaljournals.se]

• Apathy

  The infantile form (type I) is the most severe; establishes in the first 6 months of life with generalized CNS involvement, hypotonia, delay in neuropsychomotor development, apathy, weak sucking, subnormal weight gain, hepatosplenomegaly, facial dysmorphism [scielo.br]

The treatment is administered as a single dose intracisternal injection under general anesthesia. [empr.com]

Very limited and investigational symptomatic treatment options include substrate reduction therapy, enzyme replacement therapy, bone marrow transplantation, stem cell transplantation and gene therapy to address non-CNS symptoms. [gaintherapeutics.com]

Management and treatment Treatment for patients with GM1 gangliosidosis is symptomatic and supportive. Substrate reduction therapy is a potential approach for clinical trials in late-onset forms. [orpha.net]

Treatment Treatment Options: There is no treatment that effectively alters the disease course. References References Brunetti-Pierri N, Scaglia F. GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. [disorders.eyes.arizona.edu]

[…] include: distinct facial features (coarse facial features) poor muscle tone (hypotonia) enlargement of the liver and spleen (hepatosplenomegaly) exaggerated startle reaction developmental regression skeletal abnormalities seizures visual impairment Treatment [childrenshospital.org]

Prognosis Prognosis depends on the type of GM1 gangliosidosis and is extremely poor in the severe infantile form and variable in the chronic adult form of the disease. [orpha.net]

Prognosis Infantile (type 1): Death usually occurs during the second year of life because of infection and cardiopulmonary failure. [1] Juvenile (type 2): Death usually occurs before the second decade of life. [1] Adult (type 3): Phenotypic variability [emedicine.medscape.com]

Prognosis In Type I GM1-gangliosidosis, the child dies within a few years after the symptoms begin, typically by age two. In Type II GM1-gangliosidosis, the prognosis is variable. [encyclopedia.com]

GM1 gangliosidosis prognosis The long-term outlook or prognosis for people with GM1 gangliosidosis depends on the type, age of onset, and severity of the condition in each person. [healthjade.net]

Prognosis depends on the type of GM1 gangliosidosis and is extremely poor in the severe infantile form. [secure.ssa.gov]

Etiology The disorder is caused by mutations in the GLB1gene (3p22.3) coding for beta-galactosidase. To date, more than 165 mutations have been identified. [orpha.net]

Summary Epidemiology The disorder is panethnic but worldwide prevalence is not known. Prevalence at birth is estimated to be approximately 1:100,000 to 200,000 live births. [orpha.net]

[…] mitochondrial mass, morphology, and function. [12] Altered mitochondrial morphology could lead to a reduced availability of ATP at synapses, leading to some of the impaired neurotransmission and neuronal degradation seen in lysosomal storage disorders. [13, 12] Epidemiology [emedicine.medscape.com]

Adult (type 3): The adult subtype is marked by normal early neurologic development with no physical stigmata and subsequent development of a slowly progressive dementia with parkinsonian features, extrapyramidal disease, and dystonia. [3, 4, 5] Pathophysiology [emedicine.medscape.com]

Thus, the early diagnosis of the disease is extremely important, as its only form of prevention, at the moment, is through genetic counseling(11 Brunetti-Pierri N, Scaglia F. [scielo.br]

Restricting your diet does not prevent lipid buildup in cells and tissues. [healthjade.net]

Starting long-term beta-galactosidase expression in GM1 gangliosidosis patients could eliminate gathered GM1-ganglioside lipids and prevent more accumulation. [clinicaltrialsarena.com]

But in patients with the disorder, the lysosomes are malfunctioning, preventing the GM1 ganglioside from breaking down, according to the NIH. [news.clemson.edu]