Extensive Mongolian spots and normocephaly: an uncommon presentation of infantile Sandhoff’s disease

Sharawat, Indar Kumar; Saini, Lokesh; Randhawa, Manjinder Singh; Ahuja, Chirag

doi:10.1136/bcr-2018-225013

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2022

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“…The HC size does not play an essential role in diagnosing iSD. [12][13][14] According to Lee et al, only six cases of cardiomyopathies, valvulopathies and cardiomegaly were reported. 3 But up to now, no cases of iSD associated with ASD have been reported.…”

Section: Discussionmentioning

confidence: 99%

Clinical Presentation and Genetic Heterogeneity Including Two Novel Variants in Sri Lankan Patients With Infantile Sandhoff Disease

Ozaal

Jayasena

Jayakody

et al. 2022

Child Neurology Open

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Infantile Sandhoff Disease ( iSD) is a subtype of GM2 gangliosidosis, which is never been reported in Sri Lanka. Data of eight children, who were diagnosed with iSD during the period of 2017 to 2021, were analyzed retrospectively. The aim of this study was to analyze genotypic and phenotypic variations of native iSDs. Café-au-lait spots, mitral regurgitation and atrial septal defect were found in our patients but never reported in the literature. We found c.1417 + 5G>A and c.1303_1304insCT p.(Arg435Thrfs*10) novel variants of HEXB gene among the nine different gene mutations that were identified. The commonest HEXB gene variant identified in India was c.850 C4T (p.R284X) but was not noticed among Sri Lankan patients. In contrast to other studies, all our patients died within the age of two years. This is the first Sri Lankan study that expands the clinical and molecular basis of iSD with its novel findings.

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Section: Discussionmentioning

confidence: 99%