Hemimegalencephaly Associated with Congenital Infiltrating Lipomatosis of the Face: A Case Report

Abstract

Hemimegalencephaly (HME) is a rare congenital malformation of the brain, grossly characterized by enlargement and overdevelopment of one cerebral hemisphere. We describe a 16-month-old patient with facial asymmetry caused by congenital infiltrating lipomatosis of the face (CILF) associated with ipsilateral HME. Although HME has been described as part of different syndromic diseases, the association of HME with CILF has been rarely reported. Our case and literature review suggest that when the diagnosis of CILF is suspected or established, the possible presence of associated HME has to be considered and a magnetic resonance imaging (MRI) must be performed even in absence of neurological features, not always present in early stages. MRI also demonstrates the involvement of intracranial structures outside the affected cerebral hemisphere, such as brain stem, cerebellum, cranial nerves, and blood vessels. In our patient, computed tomography of the brain provided detailed information on osseous hypertrophy and skull-base foramina enlargement.

Keywords

hemimegalencephaly - congenital infiltrating lipomatosis of the face - brain malformation - cortical development

• References

• 1 Barkovich AJ, Chuang SH. Unilateral megalencephaly: correlation of MR imaging and pathologic characteristics. AJNR Am J Neuroradiol 1990; 11 (3) 523-531
• 2 Di Rocco C, Battaglia D, Pietrini D, Piastra M, Massimi L. Hemimegalencephaly: clinical implications and surgical treatment. Childs Nerv Syst 2006; 22 (8) 852-866
• 3 Flores-Sarnat L. Hemimegalencephaly: part 1. Genetic, clinical, and imaging aspects. J Child Neurol 2002; 17 (5) 373-384 , discussion 384
• 4 Maruyama K, Okumura A, Negoro T, Watanabe K. Congenital infiltrating lipomatosis of the face with ipsilateral hemimegalencephaly, band heterotopia, and hypertrophy of brainstem and cerebellum. Neuropediatrics 2010; 41 (3) 147-150
• 5 Padwa BL, Mulliken JB. Facial infiltrating lipomatosis. Plast Reconstr Surg 2001; 108 (6) 1544-1554
• 6 Salamon N, Andres M, Chute DJ , et al. Contralateral hemimicrencephaly and clinical-pathological correlations in children with hemimegalencephaly. Brain 2006; 129 (Pt 2) 352-365
• 7 Sarnat HB, Flores-Sarnat L. Embryology of the neural crest: its inductive role in the neurocutaneous syndromes. J Child Neurol 2005; 20 (8) 637-643
• 8 Sato N, Yagishita A, Oba H , et al. Hemimegalencephaly: a study of abnormalities occurring outside the involved hemisphere. AJNR Am J Neuroradiol 2007; 28 (4) 678-682
• 9 Sener RN. MR demonstration of cerebral hemimegalencephaly associated with cerebellar involvement (total hemimegalencephaly). Comput Med Imaging Graph 1997; 21 (3) 201-204
• 10 Slavin SA. Congenital infiltrating lipomatosis. Plast Reconstr Surg 1989; 83 (5) 929
• 11 Tinkle BT, Schorry EK, Franz DN, Crone KR, Saal HM. Epidemiology of hemimegalencephaly: a case series and review. Am J Med Genet A 2005; 139 (3) 204-211