A ten-year-old boy with macrocephaly. His head circumference soon after birth
started growing above normal. Developmental milestones were normal and
neurological examination showed mild hypotonia in the first years of life.
The only complain is frequent falls, without cerebellar or motor
abnormalities on neurological examination. MLC diagnosis was based on MRI
findings (Figures 1 and 2). The absence of cerebellar
abnormalities in this case is useful to rule out congenital muscular
dystrophy in patient with macrocephaly11 Nunes RH, Pacheco FT, Rocha AJ. Magnetic resonance
imaging of anterior temporal lobe cysts in children:
discriminating special imaging features in a particular
group of diseases. Neuroradiology. 2014;56:569-77.
http://dx.doi.org/10.1007/s00234-014-1356-9
https://doi.org/10.1007/s00234-014-1356-...
.
(A), Axial T1-weighted image shows diffuse cerebral white-matter abnormalities with frontoparietal subcortical cysts (arrows). (B), Axial FLAIR image exhibits subcortical cysts (arrows) in the anterior temporal lobe intermingled with diffuse white-matter hyperintensity. (C) and (D), Axial T2-weighted images with diffuse white-matter abnormalities, the external and extreme capsules are involved and the posterior limb of the internal capsule shows a double-line of abnormal intensity (arrows in D). (E), Coronal T2-weighted image highlights a diffuse brain swelling with white-matter hyperintensity and persistence of the cavum septum pellucidum (arrow). (F), Sagittal T1-weighted image with fat suppression and after endovenous gadolinium contrast, note the cranio-facial disproportion without abnormal enhancement. The corpus callosum is relatively spared.
Short TE (31ms) proton-spectroscopy in a control (A) and in the patient with MLC (B) demonstrates mild increased concentration of choline (Cho, in 3.24 ppm) and myoinositol (mI in 3.56 ppm), there is also mild decreased NAA (this pattern is compatible with mild disease, indicating gliosis and rarefaction of the white-matter). In patients with another spectrum of this disease (severe neurological deterioration), the white-matter is totally cystic and proton-spectroscopy shows peaks of lactate (in 1.33 ppm) and glucose (in 3.4 and 3.8 ppm).
MLC is associated with MCL1 gene mutation in 70% of the cases22 Olivier M, Lenard HG, Aksu F, Gärtner J. A new
leukoencephlapathy with bilateral anterior temporal lobe
cysts. Neuropediatrics. 1998;29(5):225-8.
http://dx.doi.org/10.1055/s-2007-973566
https://doi.org/10.1055/s-2007-973566...
, leading to disbalanced
intracelullar ion concentration and astrogliosis33 Knaap MS, Boor I, Estévez R. Megalencephalic
leukoencephalopathy with subcortical cysts: chronic white
matter oedema due to a defect in brain ion and water
homoeostasis. Lancet Neurol. 2012;11(11):973-85.
http://dx.doi.org/10.1016/S1474-4422(12)70192-8
https://doi.org/10.1016/S1474-4422(12)70...
,44 Sinhal BS, Gorospe JR, Naidu S. Megalencephalic
leukoencephalopathy with subcotical cysts. J Child Neurol.
2003;18(9):645-52.
http://dx.doi.org/10.1177/08830738030180091201
https://doi.org/10.1177/0883073803018009...
.
References
-
1Nunes RH, Pacheco FT, Rocha AJ. Magnetic resonance imaging of anterior temporal lobe cysts in children: discriminating special imaging features in a particular group of diseases. Neuroradiology. 2014;56:569-77. http://dx.doi.org/10.1007/s00234-014-1356-9
» https://doi.org/10.1007/s00234-014-1356-9 -
2Olivier M, Lenard HG, Aksu F, Gärtner J. A new leukoencephlapathy with bilateral anterior temporal lobe cysts. Neuropediatrics. 1998;29(5):225-8. http://dx.doi.org/10.1055/s-2007-973566
» https://doi.org/10.1055/s-2007-973566 -
3Knaap MS, Boor I, Estévez R. Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis. Lancet Neurol. 2012;11(11):973-85. http://dx.doi.org/10.1016/S1474-4422(12)70192-8
» https://doi.org/10.1016/S1474-4422(12)70192-8 -
4Sinhal BS, Gorospe JR, Naidu S. Megalencephalic leukoencephalopathy with subcotical cysts. J Child Neurol. 2003;18(9):645-52. http://dx.doi.org/10.1177/08830738030180091201
» https://doi.org/10.1177/08830738030180091201
Publication Dates
-
Publication in this collection
Feb 2015
History
-
Received
28 Aug 2014 -
Reviewed
01 Oct 2014 -
Accepted
21 Oct 2014