Infantile Sandhoff disease with ventricular septal defect: a case report

Sahyouni, Jamal Khaled; Odeh, Luma Bassam Mahmoud; Mulla, Fahad; Junaid, Sana; Kar, Subhranshu Sekhar; Almarri, Naheel Mohammad Jumah Al Boot

doi:10.1186/s13256-022-03550-0

Cited by 4 publications

(2 citation statements)

References 15 publications

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“…It can detect abnormalities in a wide spectrum of genes. However, it is expensive and requires complex analysis [ 37 ].…”

Section: Methodsmentioning

confidence: 99%

Molecular Basis of Müllerian Agenesis Causing Congenital Uterine Factor Infertility—A Systematic Review

Dube,

Kar,

Jhancy

et al. 2023

IJMS

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Infertility affects around 1 in 5 couples in the world. Congenital absence of the uterus results in absolute infertility in females. Müllerian agenesis is the nondevelopment of the uterus. Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a condition of uterovaginal agenesis in the presence of normal ovaries and the 46 XX Karyotype. With advancements in reproductive techniques, women with MA having biological offspring is possible. The exact etiology of MA is unknown, although several genes and mechanisms affect the development of Müllerian ducts. Through this systematic review of the available literature, we searched for the genetic basis of MA. The aims included identification of the genes, chromosomal locations, changes responsible for MA, and fertility options, in order to offer proper management and counseling to these women with MA. A total of 85 studies were identified through searches. Most of the studies identified multiple genes at various locations, although the commonest involved chromosomes 1, 17, and 22. There is also conflicting evidence of the involvement of various candidate genes in the studies. The etiology of MA seems to be multifactorial and complex, involving multiple genes and mechanisms including various mutations and mosaicism.

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“…It can detect abnormalities in a wide spectrum of genes. However, it is expensive and requires complex analysis [ 37 ].…”

Section: Methodsmentioning

confidence: 99%

Molecular Basis of Müllerian Agenesis Causing Congenital Uterine Factor Infertility—A Systematic Review

Dube,

Kar,

Jhancy

et al. 2023

IJMS

Self Cite

View full text Add to dashboard Cite

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“…Although less common in Sandhoff disease, nine infantile patients have been reported with cardiac manifestations [484][485][486]. All patients displayed MVP with MVR, ASD, VSD, CMG with LVD and HF [484][485][486][487][488][489][490] (Table 6, Supplementary Tables S2 and S3). A few patients also showed heart murmur and mild ARe from AVP, along with asymmetric hypertrophy of the interventricular septum without left ventricular outflow tract obstruction.…”

Section: Hexb-lsdmentioning

confidence: 99%

Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review

Conte,

Sam,

Lefeber

et al. 2023

IJMS

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Heart failure (HF) is a progressive chronic disease that remains a primary cause of death worldwide, affecting over 64 million patients. HF can be caused by cardiomyopathies and congenital cardiac defects with monogenic etiology. The number of genes and monogenic disorders linked to development of cardiac defects is constantly growing and includes inherited metabolic disorders (IMDs). Several IMDs affecting various metabolic pathways have been reported presenting cardiomyopathies and cardiac defects. Considering the pivotal role of sugar metabolism in cardiac tissue, including energy production, nucleic acid synthesis and glycosylation, it is not surprising that an increasing number of IMDs linked to carbohydrate metabolism are described with cardiac manifestations. In this systematic review, we offer a comprehensive overview of IMDs linked to carbohydrate metabolism presenting that present with cardiomyopathies, arrhythmogenic disorders and/or structural cardiac defects. We identified 58 IMDs presenting with cardiac complications: 3 defects of sugar/sugar-linked transporters (GLUT3, GLUT10, THTR1); 2 disorders of the pentose phosphate pathway (G6PDH, TALDO); 9 diseases of glycogen metabolism (GAA, GBE1, GDE, GYG1, GYS1, LAMP2, RBCK1, PRKAG2, G6PT1); 29 congenital disorders of glycosylation (ALG3, ALG6, ALG9, ALG12, ATP6V1A, ATP6V1E1, B3GALTL, B3GAT3, COG1, COG7, DOLK, DPM3, FKRP, FKTN, GMPPB, MPDU1, NPL, PGM1, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PMM2, POMT1, POMT2, SRD5A3, XYLT2); 15 carbohydrate-linked lysosomal storage diseases (CTSA, GBA1, GLA, GLB1, HEXB, IDUA, IDS, SGSH, NAGLU, HGSNAT, GNS, GALNS, ARSB, GUSB, ARSK). With this systematic review we aim to raise awareness about the cardiac presentations in carbohydrate-linked IMDs and draw attention to carbohydrate-linked pathogenic mechanisms that may underlie cardiac complications.

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

Zhang,

Zou,

et al. 2024

Acta Epileptologica

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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.

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Infantile Sandhoff disease with ventricular septal defect: a case report

Cited by 4 publications

References 15 publications

Molecular Basis of Müllerian Agenesis Causing Congenital Uterine Factor Infertility—A Systematic Review

Molecular Basis of Müllerian Agenesis Causing Congenital Uterine Factor Infertility—A Systematic Review

Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review

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

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