a case report of hemimegalencephaly k mraidha, s jerbi omezzine, n chouchene, z khadimallah, a...
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A CASE REPORT OF HEMIMEGALENCEPHALY
K MRAIDHA, S JERBI OMEZZINE, N CHOUCHENE, Z KHADIMALLAH, A ACHOUR, R BOSSOFFARA1, MT Sfar1, HA HAMZA.Department of Medical Imaging, University Hospital Tahar Sfar, Mahdia, Tunisia 1Department of Pediatrics, University Hospital Tahar Sfar, Mahdia, Tunisia
NR9
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INTRODUCTION
Hemimegalencephaly or unilateral
megalencephaly is a severe, rare
malformation of cortical development ,
characterized by enlargement of all or
parts of a cerebral hemisphere.
The affected hemisphere may have focal or
diffuse neuronal migration defects, with
areas of polymicrogyria, pachygyria, and
heterotopia.
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INTRODUCTION
The etiology of this condition is unknown,
though it is speculated that it involves
abnormalities of neuronal differentiation and
cell migration in a single hemisphere.
MR imaging is the imaging technique of
choice for diagnosis of this condition.
We report the following case to illustrate the
MR imaging features of this uncommon but
major congenital malformation of the brain .
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HISTORY
A 6-year-old girl with intractable
epilepsy ,
The electroencephalography shows
ipsarythmie,
Magnetic resonance (MR) imaging of
the brain was performed for this girl
.
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IMAGING FINDINGS
Abnormal T2 hypointensity of the subjacent white matter with enlargement of the lateral ventricle
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IMAGING FINDINGS
Axial Fair weighted MR image revealed pachygyria and right cortical thickening.
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IMAGING FINDINGS
Axial diffusion tensor image shows hyper myelination in the white matter of the right anterior frontal lobe.
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DISCUSSION
Hemimegalencephaly is a rare congenital
disorder in which there is hamartomatous
overgrowth of all or part of a cerebral
hemisphere.
Described for the first time by Sims in
1835 after reviewing 253 autopsies.
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DISCUSSION
The affected hemisphere may have
focal or diffuse neuronal migration
defects, with areas of
polymicrogyria, pachygyria, and
heterotopia.
There is three types of
hemimegalencephaly.
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Three types of hemimegalencephaly
1. The isolated form, as in our case, occurs as a sporadic disorder without hemicorporal hypertrophy or cutaneous or systemic involvement.
2. The syndromic form is associated with other diseases and may occur as hemihypertrophy of part or all of the ipsilateral body. It has been described in patients with epidermal nevus syndrome, Proteus syndrome, neurofibromatosis type 1, hypermelanosis of Ito, Klippel-Weber-Trenaunay syndrome, and tuberous sclerosis.
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3. The third and least common type is
total hemimegalencephaly, in which
there is also enlargement of the
ipsilateral half of the brainstem and
cerebellum.
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Clinical
Males and females are equally affected.
Affected patients may have macrocephaly at
birth and in early infancy and often present
with an intractable seizure disorder,
hemiplegia, and severe developmental
delay. Therefore macrocephaly is often the
first presentation at birth.
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Clinical
Epilepsy is the most frequent
neurologic manifestation, occurring in
greater than 90% of patients .
Although progressive hemiplegia and
hemianopia are common, some patients
do not have focal motor deficits.
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Diagnosis
The diagnosis of hemimegalencephaly can usually be made at cross-sectional imaging.
At CT, asymmetry of the cranium may be evident with enlargement of all or part of a cerebral hemisphere and ipsilateral ventricle. There is often focal, small, or extensive calcification in the white and gray matter, and the white matter may have abnormally low attenuation representing heterotopia and dysplasia of neurons.
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Diagnosis
MR is the imaging modality of choice :
• A characteristic finding is straightening of the
ipsilateral frontal horn of the enlarged
ventricle . However, the ipsilateral ventricle
may be small in some patients. At MR imaging,
the white matter shows heterogeneous but
frequently high signal intensity and there is
often distinction of areas of agyria,
pachygyria, and/or polymicrogyria.
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Diagnosis
• The white matter of the affected hemisphere may show advanced myelination for age. There is a roughly inverse relationship between the severity of the cortical and white matter abnormalities and the size of the cerebral hemisphere.
• Patients with agyria tend to have mild to moderate hemispheric enlargement, while those with polymicrogyria have more severe hemispheric enlargement.
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Diagnosis
Functional imaging with positron
emission tomography has had good
correlation with CT and MR imaging
findings and has disclosed
functionally abnormal brain regions
in the noninvolved hemisphere that
appeared structurally normal at CT
and MR imaging.
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Treatment
Hemispherectomy was first performed for
treatment of refractory epilepsy in 1978 and is
considered the best therapeutic choice for
patients with intractable seizures.
Anatomic or functional hemispherectomy has
also been performed with improvement in
quality of life. Nevertheless, there is a high
mortality and morbidity rate associated with
hemispherectomy.
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CONCLUSION
Hemimegalencephaly is a major
congenital malformation of the
brain and MRI is the imaging
modality of choice for the diagnosis
showing unilateral cortical
thickening involving all or part of
the cerebral hemisphere as most
notable characteristic.
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REFERENCES
David D. Broumandi, MD. Ulrike M. Hayward, MD.James, M. Benzian, MD.Ignacio Gonzalez, MD.Marvin, D. Nelson, MD. Hemimegalencephaly, RadioGraphics 2004; 24:843–848.
N. Sato, A. Yagishita, H. Oba, Y. Miki, Y. Nakata, F. Yamashita, K. Nemoto, K. Sugai, M. Sasaki. Hemimegalencephaly: A Study of Abnormalities Occurring Outside the Involved Hemisphere, J Neuroradiol 28:678–82 Apr2007.
H. Kometani. Postnatal evolution of cortical malformation in the ‘‘non-affected” hemisphere of hemimegalencephaly, Brain & Development 32 (2010).