Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India

Abstract

Gangliosidoses are progressive neurodegenerative disorders caused by the deficiency of enzymes involved in the breakdown of glycosphingolipids. There are not much data about gangliosidosis in India; hence, this study was planned. The aim is to study the clinical, biochemical, and molecular profile of gangliosidosis. A retrospective chart review, in the pediatric neurology department from January 2015 to March 2020, was performed. Children diagnosed with Gangliosidosis were included. The disorder was confirmed by reduced activity of enzymes and/or pathogenic or likely pathogenic variants in associated genes. We assessed age at presentation, gender, parental consanguinity, clinical manifestations, neuroimaging findings, enzyme level, and pathogenic or likely pathogenic variants. Clinical data for 32 children with gangliosidosis were analyzed, which included 12 (37.5%) with GM1 gangliosidosis, 8 (25%) with Tay-Sachs disease (TSD), 11 (34.37%) with Sandhoff disease (SD), and 1 AB variant of GM2 gangliosidosis that occurs due to GM2 ganglioside activator protein deficiency. Twenty-four (75%) children were the offspring of consanguineous parents. Thirty-one (97%) had developmental delay. The median age at presentation was 15.5 months. Nine (28.12%) had seizures. Five children (41.6%) with GM1 gangliosidosis and two with SD had extensive Mongolian spots. Ten children with GM1 gangliosidosis (83.3%) had coarse facial features. Cherry red spot was found in 24 out of 32 children (75%). All children with GM1 gangliosidosis and none with TSD had hepato-splenomegaly. Two children (2/8; 25%) with TSD and seven (7/11; 63%) with SD had microcephaly. One child with SD had coarse facies and three did not have hepato-splenomegaly. Neuroimaging findings revealed bilateral thalamic involvement in 20 (62.5%) patients and periventricular hypomyelination in all cases. One child had a rare AB variant of GM2 gangliosidosis. GM2 Gangliosidoses are more common compared with GM1 variety. All of them had infantile onset except one child with TSD. Microcephaly can be present while usually megalencephaly is reported in the literature. The absence of hepato-splenomegaly does not rule out SD. Extensive Mongolian spots can be seen in GM2 gangliosidosis. AB variant of GM2 gangliosidosis should be considered when the enzyme is normal in the presence of strong clinical suspicion.

Extensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case Report

“…Interestingly, the authors observed that the number of hyperpigmented macules increased with the progression of the disease, although no genotype-phenotype correlation or association with the overall disease severity was evident [21]. Similar results were seen in other Indian and Chinese cohorts [22,23], thus supporting the association of extensive congenital DM with GM1 gangliosidosis in Asian and darker skin phototypes patients from India.…”

Nursing Care Plan for Patients with Tay–Sachs—A Rare Paediatric Disease

“…Depending on this aspect, it would be advisable to assess caregiver fatigue, as it can be an important and influential factor in the development and evolution of the patient’s illness [ 17 , 50 , 51 ]. Considering the role of the caregiver and their relationship with the patient diagnosed with Tay–Sachs disease was a nuance mentioned by the group of experts since, in a situation of total or partial dependency, the state of the main caregiver can have a direct impact on the patient [ 52 , 53 ].…”

Krabbe Disease with Normal Enzyme Assay with a Pathogenic Variant in GALC Gene—A Report of Two Indian Cases

“…[ 8 ] The normal enzyme is also reported in other LSDs like in MLD due to Saposin B or Arylsulfatase A deficiency,[ 7 ] and the AB variant of gangliosidosis. [ 9 ]…”