Answer for BIR CoW 28 Jul 2024
Van der knapp disease
Findings
Evidence of bilateral extensive symmetrical T2/FLAIR hyperintensity involving subcortical and deep white matter in bilateral cerebral hemispheres with sparing of bilateral basal ganglia, bilateral thalami and brainstem showing no diffusion restriction/ gradient blooming. Large T2 hyperintense subcortical cystic lesions which suppresses on FLAIR noted in right frontal, bilateral parietal, and bilateral anterior and medial temporal region. Diffuse cerebral atrophy noted. Cavum vergae noted.
Discussion
It is a rare inherited autosomal recessive disease characterised by diffuse subcortical leukoencephalopathy associated with white matter cystic degeneration. The age at symptoms manifestations ranges from birth to 25 years, with a median age of 6 months . Autosomal recessive inheritance, and the gene locus has been mapped as MLC1 gene at chromosome 22q.
CLINICAL FEATURES : Slow course Macrocephaly Ataxia Spasticity Gait disturbance Mental deterioration Seizures
IMAGING FEATURES : Megalencephaly. Severe white matter disease – diffuse, bilateral and symmetric T2 hyperintensity and T1 hypointensity in the cerebral white matter, giving a characteristic 'swollen' appearance. There may also be abnormal diffusion signal on DWI. Subcortical U fiber involvement with centripetal progression. Large subcortical cyst formation in the frontoparietal region and temporal region with relative sparing of the deep and cerebellar white matter. Subtle signal changes in brainstem along the pyramidal tracts. Cortical and deep gray matter structures are normal . Eventual cerebral atrophy with increase in size of the subcortical cysts. MRS – Decreased NAA peak and increased Choline peak. DIFFERENTIAL DIAGNOSIS :
Canavan disease
Alexander disease
Infantile onset GM2 and GM1 gangliosidosis
Metachromatic leukodystrophy
REFERENCE :
Osborn’s Brain Imaging, Pathology and Anatomy 2nd edition
https://www.eurorad.org/case/12285
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4513453/
Findings
Evidence of bilateral extensive symmetrical T2/FLAIR hyperintensity involving subcortical and deep white matter in bilateral cerebral hemispheres with sparing of bilateral basal ganglia, bilateral thalami and brainstem showing no diffusion restriction/ gradient blooming. Large T2 hyperintense subcortical cystic lesions which suppresses on FLAIR noted in right frontal, bilateral parietal, and bilateral anterior and medial temporal region. Diffuse cerebral atrophy noted. Cavum vergae noted.
Discussion
It is a rare inherited autosomal recessive disease characterised by diffuse subcortical leukoencephalopathy associated with white matter cystic degeneration. The age at symptoms manifestations ranges from birth to 25 years, with a median age of 6 months . Autosomal recessive inheritance, and the gene locus has been mapped as MLC1 gene at chromosome 22q.
CLINICAL FEATURES : Slow course Macrocephaly Ataxia Spasticity Gait disturbance Mental deterioration Seizures
IMAGING FEATURES : Megalencephaly. Severe white matter disease – diffuse, bilateral and symmetric T2 hyperintensity and T1 hypointensity in the cerebral white matter, giving a characteristic 'swollen' appearance. There may also be abnormal diffusion signal on DWI. Subcortical U fiber involvement with centripetal progression. Large subcortical cyst formation in the frontoparietal region and temporal region with relative sparing of the deep and cerebellar white matter. Subtle signal changes in brainstem along the pyramidal tracts. Cortical and deep gray matter structures are normal . Eventual cerebral atrophy with increase in size of the subcortical cysts. MRS – Decreased NAA peak and increased Choline peak. DIFFERENTIAL DIAGNOSIS :
Canavan disease
Alexander disease
Infantile onset GM2 and GM1 gangliosidosis
Metachromatic leukodystrophy
REFERENCE :
Osborn’s Brain Imaging, Pathology and Anatomy 2nd edition
https://www.eurorad.org/case/12285
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4513453/
Note:
We do not discourage differential diagnosis. But all the differentials must satisfy the findings noted in the case.
If you feel you have answered rightly but cannot find your name in the above list, please call 09551942599.
Did you Know?
The order in which the names appear in this winner's list is based on the time of submission. The first person to send the correct answer gets his/her name on top of the list!
We do not discourage differential diagnosis. But all the differentials must satisfy the findings noted in the case.
If you feel you have answered rightly but cannot find your name in the above list, please call 09551942599.
Did you Know?
The order in which the names appear in this winner's list is based on the time of submission. The first person to send the correct answer gets his/her name on top of the list!