Description:

Tay-Sachs disease is a sphingolipidoses disorder characterized by failure to produce enzymes necessary for the degradation of sphingolipids in lysosomes, which leads to muscle weakness, ataxia, and mental and speech disorders. The treatment for such disorders commonly includes the use of miglustat, a medication that may cause several side effects (e.g., diarrhea and weight loss) that can contribute to the development of malnutrition. To our knowledge, no reports are available in the literature on the nutritional assessment and intervention recommended for those with Tay-Sachs disease. This case report aimed to describe the case of a female patient diagnosed with late-onset Tay-Sachs disease. The patient presented with diarrhea (adverse effect to treatment) and malnutrition when referred to the dietitian. She had significant muscle loss, asthenia, and weakness. The nutritional interventions prescribed were: dietary modification; supplementation with beta-hydroxymethyl-butyrate (HMB); use of lactase enzyme; probiotic (Saccharomyces boulardii); and oral nutritional supplement with low osmolarity. Recommendations aimed to meet the patient’s nutritional requirements, including energy needs. In response to the nutrition intervention, the patient progressed with diarrhea cessation, weight recovery, and improvement in physical function measured by the dynamometer. As patients undergoing treatment for Tay-Sachs disease quickly progress to malnutrition, and given the lack of guidelines to inform healthcare providers on nutritional recommendations for this cohort, the description of a case that had positive progression may inform healthcare providers and help to initiate a discussion on the need to conduct research in this field for the development of therapeutic protocols and nutrition recommendations.

Tay-Sachs disease (TSD) is a neurodegenerative disease that is caused by mutations in the HEXA gene. These mutation cause low or absent activity of the enzyme beta-hexosaminidase A which leads to GM2 build up in brain and spinal cells causing muscle weakness, regression of milestones, and difficulty with mobility. There are three forms of TSD: infantile, juvenile, and late onset/adult form. This inherited genetic disorder is autosomal recessive and most frequently seen in Ashkenazi Jewish, Old Order Amish, and Cajun populations. It is important for people at high risk for TSD to get genetic counseling/and or screening. There is no cure for TSD, treatment focuses on alleviating symptoms of the disease.

Gangliosidoses are inherited lysosomal storage disorders caused by reduced or absent activity of either a lysosomal enzyme involved in ganglioside catabolism, or an activator protein required for the proper activity of a ganglioside hydrolase, which results in the intra-lysosomal accumulation of undegraded metabolites. We hereby describe morphological, ultrastructural, biochemical and genetic features of GM2 gangliosidosis in three captive bred wild boar littermates. The piglets were kept in a partially-free range farm and presented progressive neurological signs, starting at 6 months of age. Animals were euthanized at approximately one year of age due to their poor conditions. Neuropathogens were excluded as a possible cause of the signs. Gross examination showed a reduction of cerebral and cerebellar consistency. Central (CNS) and peripheral (PNS) nervous system neurons were enlarged and foamy, with severe and diffuse cytoplasmic vacuolization.

Epilepsy is known to be associated with Tay-Sachs disease (TSD); however, no detailed reports are available. This case report aimed to present the clinical features of late onset spasms (LOS) in a patient with infantile TSD, and to elucidate the pathophysiology leading to LOS, using proton magnetic resonance spectroscopy (MRS).

With Regards

Barbara
Journal Coordinator
Global Journal of Research and Review