Hemihypertrophy Associated with Hemimegalencephaly in a Newborn
Article Outline
A 2-day-old female patient was seen shortly after birth for seizures involving her left face and left side of her body. Notable findings on examination included macrocephaly, enlarged right lower face, and hypertrophy of the right side of her tongue. The right lower extremity was also larger compared with the left (Figure 1). Magnetic resonance imaging (MRI) done shortly thereafter demonstrated an asymmetric increase in the size of the right cerebral hemisphere, right cerebellum, and right side of the brain stem (Figure 2).
Figure 1
Photograph of the child with hypertrophy of the right lower extremity.
Figure 2
A, Asymmetry in the cerebellum demonstrated in axial fluid attenuated inversion recovery (FLAIR) MRI. B, MRI of the brain demonstrating poorly differentiated white and grey matter with larger ventricle on the affected side. The sulci are not as clearly demonstrated on the right compared with the left hemisphere. Hypertrophied brain stem on the affected side noted and at the level of the midbrain. Inversion recovery (FLAIR) MRI in axial section.
Hemihypertrophy is a condition characterized by marked asymmetry in size between the right and left sides of the body. The variation is usually confined to the limbs, but on occasion can involve the internal organs or face, as described in this report.
Hemimegalencephaly is a congenital disorder of the brain that involves enlargement of only one cerebral hemisphere and, infrequently, involves the ipsilateral cerebellum and brain stem(“complete” or “total” hemimegalencephaly).
Patients commonly have macrocephaly, cranial asymmetry, or both at birth.1 Other clinical features include intractable early epilepsy, contralateral hemiparesis, and severe developmental delay. Status epilepticus may complicate the clinical course.
The outcome depends, to a large extent, on the degree of seizure control that can be achieved in a child. Severe cases often have poor prognosis, with high mortality rates in the first year of life. Early hemispherectomy may contribute to better quality of life by drastically reducing seizure frequency, which in turn may promote better cognitive development, and thus should not be unduly postponed.2
Most physicians are aware of the association between embryonal tumors such Wilm’s tumor and hemihypertrophy and thus screen routinely for them.3 However, the presence of concomitant brain anomalies is not widely recognized, and this case report highlights a poorly recognized facet of this condition.
References
PII: S0022-3476(11)00087-4
doi:10.1016/j.jpeds.2011.01.039
© 2011 Mosby, Inc. All rights reserved.
