Global Journal of Medical Research, A: Neurology & Nervous System, Volume 23 Issue 3

A Case of GM 1 Gangliosidosis Type 2 Mimicking Zellweger Syndrome Narendranath Reddy Ganampet α , Poornima Jaiswal Charpuria σ , Praver Chandan Chemudupati Parven ρ , Shresta Mary K Ѡ , Dirgha Upendrabhai Patel ¥ & Smaran Kasireddy § 21 Year 2023 Global Journal of Medical Research Volume XXIII Issue III Version I ( D ) A © 2023 Global Journals Abstract- Juvenile GM1-gangliosidosis, also known as type II or juvenile GM1-gangliosidosis, is an autosomal recessive lysosomal storage disorder that clinically differs from infantile GM1-gangliosidosis in the absence of the characteristic cherry-red patch and hepatosplenomegaly. The disease is characterized by mild skeletal abnormalities and slowly progressing neurodegeneration. Due to the late age of onset and unusual presentation, diagnostic confusion with other ataxic and purely neurological disorders is common. There are currently 3–4 recognized types of GM1-gangliosidosis, with type I being the most prevalent phenotype with an average onset age of 6 months. Several subtypes of GM1- gangliosidosis are caused by mutations in the GLB1 gene, but the location and type of deleterious mutations have a direct impact on the severity of the disease and the age at which it manifests. A fully immunized 8-month-old male presented to our hospital with complaints of mild feeding difficulty, periorbital edema, and fever. Facial dysmorphism, hypotonia, delayed development, and hepatomegaly were observed in the patient. As there is currently no effective treatment for GM1 gangliosidosis, the carrier of the disease receives only symptomatic and palliative care. Given that genetic counseling is now the only means of preventing the disease, early diagnosis is crucial. Keywords: GM1 gangliosidosis; lysosomal storage disease; beta-galactosidase. I. I ntroduction or cells to function efficiently, the processes of glycoconjugate production and degradation need to be carefully controlled. Glycoconjugates are essential for the majority of biological processes. - galactosidase, also known as GAL, is a lysosomal hydrolase that is responsible for the degradation of a wide variety of glycoconjugates. This is accomplished by hydrolyzing the non-reducing end of glycan moieties. This enzyme's primary role is to delink galactose residues from one another. According to research [1, 2], GM1 ganglioside and its asialo derivative GA1 have a tendency to concentrate in the lysosomes that are Author α : Kamineni Academy of Medical Sciences and Research Centre, Hyderabad, India. Author σ : Osmania Medical College - Hyderabad, India. Author ρ : Gandhi Medical College, Hyderabad, India. Author Ѡ : Chalmeda Anand Rao institute of medical sciences, Karimnagar, India. Author ¥ : Baroda Medical College, Vadodara, India. Corresponding Author § : JJM Medical College, Davangere, India . e-mail: smaran.psbb@gmail.com present in brain tissue. The clinical signs of the illness are caused by neurodegenerative pathways in the brain that are triggered when there is an excess of ganglioside—Galactosidase substrate. The accumulation of GM1 gangliosides in microglial cells of the central nervous system has been demonstrated to result in greater activation and infiltration of inflammatory cells into these cells, according to studies conducted using animal models. Previous research [3] has shown that inflammation seems to have a key role in both the etiology of the disorder as well as the neurological symptoms of the condition. It is believed that GM1 gangliosidosis affects between 1 in 100,000 and 200,000 neonates [4]. These numbers are based on estimates from previous studies. Type II GM1 gangliosidosis, sometimes called juvenile or late infantile GM1 gangliosidosis, is distinguished by the slow onset and progression of clinical signs. Ataxia is often the first obvious symptom associated with this subtype, followed by dystonia and spasticity. People who have type II GM 1 gangliosidosis do not have the usual signs of hepatosplenomegaly, cherry red patches, or distinctive facial characteristics. This makes it challenging to make an accurate diagnosis of the condition. People who have this syndrome seem to develop normally in the early stages of the illness. However, symptoms often begin to manifest between the ages of 3 and 5 in those affected by the juvenile form, but they appear sooner in those affected by the late infantile variety. The clinical appearance of GM1 gangliosidosis type II is characterized by diminished neurodevelopmental abilities, including motor and verbal skills. This is one of the disease's defining characteristics. Those who are affected may also have seizures that are difficult to control, which is another potential symptom. Previous research [5] has uncovered conclusions that are comparable to this one. Although the patient had an atypical clinical appearance, it was more suggestive of Zellweger syndrome than anything else. Zellweger syndrome is a hereditary condition that may be identified by the presence of peroxisome deficits. Hypotonia, often known as a loss of muscular tone, and weak or nonexistent vocalizations are two of the hallmarks of this condition, which is frequently brought on by mutations in the PEX gene. Infants affected by this disorder often struggle to feed and may experience the development of seizures at an earlier age. F