Microcephaly in infantile Sandhoff's disease

Maulik, Kaushik; Kumar, Santhosh; Singh, Paramjeet; Saini, Arushi Gahlot

doi:10.1136/bcr-2017-220912

Cited by 3 publications

(2 citation statements)

References 2 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…13,16,19 In our study, we noticed 2/8 (25%) cases of TSD and 7/11 (63.63%) cases of SD children with microcephaly a finding that has been noted in few other studies. 13,20 Two cases of SD had extensive Mongolian spots, which was a novel finding and has not been reported previously. One patient had coarse facies and similar findings were noted in 14% 16 and 56%.…”

Section: Discussionmentioning

confidence: 65%

Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India

et al. 2020

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 65%

Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India

et al. 2020

View full text Add to dashboard Cite

show abstract

“…[ 7 ] It is an autosomal recessive genetic disease, and therefore, males and females are equally affected by this disease. [ 8 ] According to the age of onset of symptoms, the disease is categorized into 3 types: classic infantile, juvenile, and adult late onset. The classic infantile form is the most common form of this disease.…”

Section: Discussionmentioning

confidence: 99%

A case of Sandhoff disease caused by a novel β-hexosaminidase B (HEXB) mutation c.118delG (p.A40fs*24): A case report from China

et al. 2023

View full text Add to dashboard Cite

Background: Sandhoff disease (SD, Online Mendelian Inheritance in Man: 268800) is an autosomal recessive lysosomal storage disorder caused by variants of the β-hexosaminidase B (HEXB) gene (Online Mendelian Inheritance in Man: 606873). The HEXB gene has been mapped to chromosome 5q13 and contains 14 exons. The symptoms of SD include progressive weakness, intellectual disability, visual and hearing impairment, exaggerated startle response, and seizures; the patients usually die before the age of 3 years. [1] Case summary: We present a case of SD caused by a homozygous frameshift mutation in the HEXB gene, c.118delG (p.A40fs*24). The male child, aged 2 years 7 months, showed movement retrogression with orbital hypertelorism at age 2 years, accompanied by seizures. Magnetic resonance imaging of the head showed cerebral atrophy and delayed myelination of the white matter of the brain. Conclusion:A novel homozygous frameshift c.118delG (p.A40fs*24) variant of HEXB has caused SD in the child. The major symptoms are intellectual disability, visual and hearing impairment, and seizures. Investigation will be continued in the future to comprehensively describe the genotype/phenotype and gain information on other associated features to understand the variable expressivity of this condition.

show abstract

Genetic variant reanalysis reveals a case of Sandhoff disease with onset of infantile epileptic spasm syndrome

Zhang,

Zou,

et al. 2024

Acta Epileptologica

View full text Add to dashboard Cite

Background Sandhoff disease (SD) i s an autosomal recessive lysosomal disease with clinical manifestations such as epilepsy, psychomotor retardation and developmental delay. However, infantile SD with onset of infantile epilepsy spasm syndrome (IESS) is extremely rare. Case presentation The case presented here was a 22-month-old boy, who presented with IESS and psychomotor retardation/regression at 6 months of age. The patient showed progressive aggravation of seizures and excessive startle responses. The whole exome sequencing data, which initially revealed negative results, were reanalyzed and indicated a homozygous mutation at the c.1613 + 4del splice site of the HEXB gene. The activities of β-hexosaminidase A and total hexosaminidase were significantly decreased. The fundus examination showed cherry red spots at the macula. Conclusions IESS can be an epileptic phenotype of infantile SD. Clinical phenotypes should be adequately collected in genetic testing. In the case of negative sequencing results, gene variant reanalysis can be performed when the patients show clinically suspicious indications.

show abstract

Microcephaly in infantile Sandhoff's disease

Cited by 3 publications

References 2 publications

Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India

Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India

A case of Sandhoff disease caused by a novel β-hexosaminidase B (HEXB) mutation c.118delG (p.A40fs*24): A case report from China

Genetic variant reanalysis reveals a case of Sandhoff disease with onset of infantile epileptic spasm syndrome

Contact Info

Product

Resources

About