Van der Knaap Disease (Vanishing White Matter) – Unusual Presentation in a Neonate: A Case Report

Jhancy, Malay; Homsi, Ammar Al; Chowdhury, Fatema; Hossain, Samiha Anjum; Ahamed, Reshme

doi:10.4103/0028-3886.289018

Cited by 3 publications

(2 citation statements)

References 4 publications

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“…Prevalence of this disorder is less than 1 in 1,000,000 population. [2] Genes involved are: MLC1, locus: 605908; HEPACAM gene, locus 611642. [3] Possible pathophysiology is splitting of outer myelin lamellae and disruption of myelin compaction.…”

Section: Introductionmentioning

confidence: 99%

Van der Knaap Syndrome: Rare Case with an Atypical Presentation: A Case Report

Panjwani

2023

Int J Sci Healthcare Res

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Megalencephalic leukoencephalopathy with subcortical cysts, Van der Knaap Disease, is an autosomal recessive disorder seen in populations where consanguinity is common. It is a slowly progressive neurodegenerative disorder with infantile megalencephaly, neurological symptoms like ataxia and seizures and leukoencephalopathy. Prevalence is less than 1 in 1,000,000. Predisposed populations are the Libyan Turks, Egyptians, Jews and the Agrawal community of India. Here we present a case of a macrocephalic 4 month old female with infantile seizures with follow up at 8 months of age, having typical MRI findings of Van der Knaap disease and symptomatic worsening after meningitis. The case presented being of a non Agrawal family in India and born of a non consanguineous marriage is an atypical and rare presentation, indicating that the syndrome may be seen in other communities as well. Keywords: Megalencephalic leucoencephalopathy, vanishing white matter, Van der Knaap, neuroradiology, subcortical cysts, macrocephaly, developmental delay, ataxia, myelination, autosomal recessive, genetics, seizure, magnetic resonance imaging, magnetic resonance spectroscopy, brain

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Section: Introductionmentioning

confidence: 99%

Van der Knaap Syndrome: Rare Case with an Atypical Presentation: A Case Report

Panjwani

2023

Int J Sci Healthcare Res

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“…Subcortical cysts involving bilateral anterior temporal region and sometimes frontoparietal region are also noted [ 1 ]. Since the discovery of the disease, only a few cases (over 150) have been reported worldwide [ 2 ]. Even though exact prevalence is not known; Orphanet mentions a prevalence of < 1/1,000,000 [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

A Very Rare Case of Megalencephalic Leukoencepalopathy With Subcortical Cysts in a Child Born of Non-Consanguineous Marriage in a Non-Predisposed Community

Randhawa¹,

Randhawa²,

Kulkarni³

et al. 2021

Cureus

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Megalencephalic leukoencephalopathy (MLC) with subcortical cysts is a very rare white matter disorder characterized predominantly by motor developmental delay and seizures in a child with macrocephaly. Extrapyramidal symptoms, ataxia and mental retardation may also occur. Only a few cases of the disease have been reported worldwide with most of them showing an autosomal recessive pattern of inheritance. In India, most cases have been reported in Agrawal community. Here, we present an interesting case of MLC in a child born in non-Agrawal community to a non-consanguineous marriage. By reporting this case we intend to increase the research horizon and increase the published literature for atypical cases of MLC.

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Siblings with megalencephalic leukoencephalopathy with subcortical cysts van der Knaap disease

et al. 2021

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Cerebral leukoencephalopathy and megalencephaly with subcortical cysts (also known as van der Knaap disease) is an autosomal recessive condition. The disease was initially described in India and Netherlands independently and seems to have highest incidence in Indian Agrawal community and Turkish population. 1 The objective of this study is to document the case of two siblings with this condition, from a non-Agrawal Indian community and briefly describe the imaging features of this condition. Two siblings, born out of a third-degree consanguineous marriage, with simple focal seizures were subjected to MRI with diffusion-weighted imaging and spectrometry. The findings were compared to diseases with similar clinical presentation. Subcortical cysts initially involving anterior temporal lobes and subsequently frontal and parietal lobes, sparing of central white mater, small N acetyl aspartate peak and diffusion facilitation were the imaging findings. The imaging findings were consistent with the diagnosis of the rare genetic disorder- Cerebral leukoencephalopathy and megalencephaly with subcortical cysts.

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Van der Knaap Disease (Vanishing White Matter) – Unusual Presentation in a Neonate: A Case Report

Cited by 3 publications

References 4 publications

Van der Knaap Syndrome: Rare Case with an Atypical Presentation: A Case Report

Van der Knaap Syndrome: Rare Case with an Atypical Presentation: A Case Report

A Very Rare Case of Megalencephalic Leukoencepalopathy With Subcortical Cysts in a Child Born of Non-Consanguineous Marriage in a Non-Predisposed Community

Siblings with megalencephalic leukoencephalopathy with subcortical cysts van der Knaap disease

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