Korean J Pediatr.  2016 Nov;59(Suppl 1):S139-S144. 10.3345/kjp.2016.59.11.S139.

A rare case of dysembryoplastic neuroepithelial tumor combined with encephalocraniocutaneous lipomatosis and intractable seizures

• Han JY
• Yum MS
• Kim EH
• Hong S
• Ko TS

• KMID: 2362276
• DOI: http://doi.org/10.3345/kjp.2016.59.11.S139

Abstract

Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome that affects ectomesodermal tissues (skin, eyes, adipose tissue, and brain). The neurologic manifestations associated with ECCL are various including seizures. However, ECCL patients very rarely develop brain tumors that originate from the neuroepithelium. This is the first described case of ECCL in combination with dysembryoplastic neuroepithelial tumor (DNET) that presented with intractable seizures. A 7-year-old girl was admitted to our center because of ECCL and associated uncontrolled seizures. She was born with right anophthalmia and lipomatosis in the right temporal area and endured right temporal lipoma excision at 3 years of age. Seizures began when she was 3 years old, but did not respond to multiple antiepileptic drugs. Brain magnetic resonance (MR) imaging performed at 8 and 10 years of age revealed an interval increase of multifocal hyperintense lesions in the basal ganglia, thalamus, cerebellum, periventricular white matter, and, especially, the right temporal area. A nodular mass near the right hippocampus demonstrated the absence of N-acetylaspartate decrease on brain MR spectroscopy and mildly increased methionine uptake on brain positron emission tomography, suggesting low-grade tumor. Twenty-four-hour video electroencephalographic monitoring also indicated seizures originating from the right temporal area. Right temporal lobectomy was performed without complications, and the nodular lesion was pathologically identified as DNET. The patient has been seizure-free for 14 months since surgery. Although ECCL-associated brain tumors are very rare, careful follow-up imaging and surgical resection is recommended for patients with intractable seizures.

Keyword

Encephalocraniocutaneous lipomatosis; Neuroepithelial neoplasms; Intractable epilepsy; Children

MeSH Terms

Adipose Tissue
Anophthalmos
Anticonvulsants
Basal Ganglia
Brain
Brain Neoplasms
Cerebellum
Child
Drug Resistant Epilepsy
Female
Follow-Up Studies
Hippocampus
Humans
Lipoma
Lipomatosis*
Magnetic Resonance Spectroscopy
Methionine
Neoplasms, Neuroepithelial*
Neurocutaneous Syndromes
Neurologic Manifestations
Positron-Emission Tomography
Seizures*
Thalamus
White Matter
Anticonvulsants
Methionine