Infantile Sandhoff Disease: Unusual presentation

Muralidharan, Chiyyarath Gopalan; Tomar, R.P.S.

doi:10.1016/j.mjafi.2015.11.008

Cited by 4 publications

(5 citation statements)

References 11 publications

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“…SD is an autosomal recessive lysosomal storage disorder on chromosome 5q13 and was first described by Konrad Sandhoff in 1968. It is due to hexosaminidase A and B enzyme deficiency (due to an abnormal β subunit) leading to accumulation of glycosphingolipids in neuronal cells and subsequent neurodegeneration [ 14 ]. The juvenile form of SD is present between 2 and 10 years of age with dysarthria, ataxia, mental deterioration, and seizures.…”

Section: Discussionmentioning

confidence: 99%

“…Organomegaly and cherry-red spots are uncommon. The adult form of SD is characterized by movement disorder, pyramidal and extrapyramidal signs and symptoms of lower motor neuron disease, and supranuclear ophthalmoplegia [ 14 ]. Progressive systemic accumulation of sphingolipids leads to macrocephaly, cherry-red spots in the eye, skeletal dysostosis, and organomegaly [ 17 ].…”

Section: Discussionmentioning

confidence: 99%

“…Described by Warren Tay in 1881, the clinical manifestation can be divided into three forms based on age group: infantile, juvenile, and adult [ 14 ]. Infantile SD presents with truncal hypotonia, muscle weakness, hyperacusis, developmental delay and regression, seizure, and cherry-red spots on ophthalmologic examination around 6 months of age [ 15 ].…”

Section: Introductionmentioning

confidence: 99%

“…Infantile SD presents with truncal hypotonia, muscle weakness, hyperacusis, developmental delay and regression, seizure, and cherry-red spots on ophthalmologic examination around 6 months of age [ 15 ]. Hepatosplenomegaly, coarse facies, and bone abnormality are seen less often than Tay–Sachs disease [ 14 ]. Death occurs by 3 years of age owing to intractable seizure and aspiration pneumonia.…”

Section: Introductionmentioning

confidence: 99%

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Infantile Sandhoff disease with ventricular septal defect: a case report

et al. 2022

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Background Infantile Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells in the brain and spinal cord, and is classified under lysosomal storage disorder. It is an autosomal recessive disorder of sphingolipid metabolism that results from deficiency of the lysosomal enzymes β-hexosaminidase A and B. The resultant accumulation of GM2 ganglioside within both gray matter nuclei and myelin sheaths of the white matter results in eventual severe neuronal dysfunction and neurodegeneration. Case presentation We evaluated a 3.5-year-old Comorian girl from the United Arab Emirates who presented with repeated chest infections with heart failure due to ventricular septal defect, neuroregression, recurrent seizures, and cherry-red spots over macula. She had macrocephaly, axial hypotonia, hyperacusis, and gastroesophageal reflux. Organomegaly was absent. Brain magnetic resonance imaging, metabolic tests, and genetic mutations confirmed the diagnosis. Despite multidisciplinary therapy, the girl succumbed to her illness. Conclusion Though early cardiac involvement can be seen with novel mutations, it is extremely rare to find association of ventricular septal defect in infantile Sandhoff disease. Neuroregression typically starts around 6 months of age. We report this case because of the unusual association of a congenital heart disease with underlying infantile Sandhoff disease and symptomatic heart failure in the first month of life with eventual fatal outcome.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Infantile Sandhoff disease with ventricular septal defect: a case report

et al. 2022

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“…The patient succumbed to an intercurrent respiratory illness 2 months later. Sandhoff's disease is an autosomal-recessive lysosomal storage disorder due to hexosaminidase A and B enzyme deficiency (due to an abnormal β-subunit) leading to accumulation of glycosphingolipids in neuronal cells and subsequent neurodegeneration 1. Progressive systemic accumulation of sphingolipids leads to macrocephaly, cherry-red spots in the eye, skeletal dysostosis and organomegaly 2.…”

Section: Descriptionmentioning

confidence: 99%

Microcephaly in infantile Sandhoff's disease

et al. 2017

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Macrocephaly

Tan

Mankad

Gonçalves

et al. 2018

Topics in Magnetic Resonance Imaging

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Macrocephaly is a relatively common clinical condition affecting up to 5% of the pediatric population. It is defined as an abnormally large head with an occipitofrontal circumference greater than 2 standard deviations above the mean for a given age and sex. Megalencephaly refers exclusively to brain overgrowth exceeding twice the standard deviation. Macrocephaly can be isolated and benign or may be the first indication of an underlying congenital, genetic, or acquired disorder, whereas megalencephaly is more often syndromic. Megalencephaly can be divided into 2 subtypes: metabolic and developmental, caused by genetic defects in cellular metabolism and alterations in signaling pathways, respectively. Neuroimaging plays an important role in the evaluation of macrocephaly, especially in the metabolic subtype which may not be overtly apparent clinically. This article outlines the diverse etiologies of macrocephaly, delineates their clinical and radiographic features, and suggests a clinicoradiological algorithm for evaluation.

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Infantile Sandhoff Disease: Unusual presentation

Cited by 4 publications

References 11 publications

Infantile Sandhoff disease with ventricular septal defect: a case report

Infantile Sandhoff disease with ventricular septal defect: a case report

Microcephaly in infantile Sandhoff's disease

Macrocephaly

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