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

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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.

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 .

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 .

IMAGING FINDINGS

Abnormal T2 hypointensity of the subjacent white matter with enlargement of the lateral ventricle

IMAGING FINDINGS

Axial Fair weighted MR image revealed pachygyria and right cortical thickening.

IMAGING FINDINGS

Axial diffusion tensor image shows hyper myelination in the white matter of the right anterior frontal lobe.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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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MD.James, M. Benzian, MD.Ignacio Gonzalez, MD.Marvin, D. Nelson, MD. Hemimegalencephaly, RadioGraphics 2004; 24:843–848.

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H. Kometani. Postnatal evolution of cortical malformation in the ‘‘non-affected” hemisphere of hemimegalencephaly, Brain & Development 32 (2010).