Vanderknaap disease

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A rare curious finding in MRI


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Vanderknaap disease :

Vanderknaap disease Dr. Pratheep Joseph Kottam, DM Neuro, Assistant Professor in Neurology, MOSC Medical College Kolenchery.


Introduction Megalencephalic Leukoencephalopathy with sub cortical cysts Neurodegenerative disorder – AR inheritance Gene - MLC1 - chromosome 22q In India, majority of the patients belong to the Agarwal community

Clinical features:

Clinical features Infantile onset macrocephaly, leucoencephalopathy and mild neurological symptoms Macrocephaly at birth or within first year of life Early development is normal or mildly delayed Almost all patients have epilepsy from an early age Slow deterioration of motor functions + cerebellar ataxia + mild spasticity usually starts in early childhood.


Clinical…. Extra pyramidal ± usually late Mental decline - later and milder than motor decline Slow course of deterioration - die in 2 nd / 3 rd decade - few may live till 4 th decade Mild neurological signs and symptoms - very abnormal MRI

MR findings – diagnostic:

MR findings – diagnostic Swollen white matter Diffuse Supratentorial symmetrical white matter changes Relative sparing of central white matter structures - corpus callosum, internal capsule and brain stem Sub cortical cysts - MC in anterior temporal region - also in frontoparietal region Sub cortical cysts may increase in size and number. Grey matter is usually spared Gradually the white matter swelling decreases and cerebral atrophy may ensue MR spectroscopy - Moderate decrease in NAA/ Cr and Choline/Cr ratios

Representative MRI:

Representative MRI

Case report:

Case report A 2 year-old Muslim boy Born of non-consanguineous marriage in Kerala Uneventful antenatal and birth history Developed progressive increase in head size, noticed from 1 year He attained social smile by 3 months and head control by 7 months of age. He was not able to sit or walk himself.

Case report…:

Case report… On examination Macrocephaly with head circumference of 61 cm. He was not able to comprehend or speak. Sensory system was normal There were no cerebellar signs. Eye examination - normal Abdominal examination was unremarkable.

MRI brain:

MRI brain

MRI Brain…:

MRI Brain… B/L symmetrical white matter changes - hypointense on T1 & hyperintense on T2 & FLAIR images suggestive of extensive demyelination. Additionally, large well defined symmetrical sub cortical cysts were noted in anterior temporal lobe and which are hypointense on T1, hyperintense on T2 and suppressed on FLAIR images These findings were consistent with a diagnosis of Megalencephalic leucoencephalopathy.

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His brother died at the age of 2 years, the cause of which is not known. He was treated symptomatically with use of physiotherapy.

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