¹⁸F-Fludeoxyglucose Positron-emission Tomography/Computed Tomography in Encephalocraniocutaneous Lipomatosis/Haberland Syndrome

A 11-year-old boy with a history of generalized tonic-clonic seizures since the age of 8 months followed by the left focal motor seizures and secondary generalization was referred to a tertiary care hospital for further management. Non-contrast computed tomography (NCCT) of the head showed gyral calcification in the right frontal and right anterior temporal lobe along the Sylvian fissure [Figure 1a]. Magnetic resonance imaging (MRI) of the brain revealed gyral calcifications and cortical dysplasia in the right postcentral gyrus, superior and inferior parietal lobule, and part of the precentral gyrus with leptomeningeal angiomatosis and scalp lipoma [Figure 1b and c]. The child was referred for ¹⁸F-fludeoxyglucose positron-emission tomography/CT (¹⁸F-FDG PET/CT) which revealed hypometabolism in the right frontal, parietal, and anterior temporal cortices [Figure 1d-f white arrows] corresponding to the areas of gyral calcifications and cortical dysplasias on NCCT and MRI, respectively.

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Figure 1 (a) Non-contrast computed tomography of the brain saggital image shows gyral calcifications in the right fronto-parieto-temporal cortices. (b) T2 fluid-attenuated inversion recovery; Magnetic resonance imaging sagittal image showing cortical dysplasia in the right postcentral gyrus and anterior temporal lobe. (c) T2 fluid-attenuated inversion recovery; Magnetic resonance imaging coronal section showing cortical dysplasia in the right posterior parietal and medial temporal cortices. (d) Sagittal section ¹⁸F fludeoxyglucose positron-emission tomography only image showing hypometabolism in the areas corresponding to cortical dysplasia. (e and f) Represent the Cortex ID suite images showing hypometabolism as seen in the positron-emission tomography images

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Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital neurocutaneous syndrome of unknown etiology that was first described by Haberland and Perou in 1970.[1] It predominantly involves the meso ectodermal tissues such as meninges, cranial vessels, dermis, hypodermis of the face and neck, connective tissue of the head, and the dermal bones of the skull.[23] Various conditions which have been described in the literature regarding this condition include unilateral porencephalic cyst, ipsilateral lipomatous hamartoma of the scalp-eyelids-eye globe, developmental delay, seizures, and mental retardation. Classical dermatologic hallmark of this syndrome is hairless fatty nevus of the scalp called nevus psiloliparus which was also present in our case.[4] ¹⁸F-FDG PET/CT has been one of the ancillary modalities in the presurgical evaluation of drug refractory epilepsy. ¹⁸F-FDG PET/CT can provide additional information about the epileptogenic focus affecting surgical decision-making in up to 50%–70% of cases and can also change the initial decisions based on MRI or EEG[56] in 17% of cases. Hemispheric hypometabolism on ¹⁸F-FDG PET/CT has been described in neurocutaneous syndromes like Sturge-Weber syndrome[7] while TS shows focal hypometabolism corresponding to the cortical tubers.[8] The pattern of hypometabolism in ECCL on 18-F-FDG PET-CT has not been described so far (to the best of our knowledge) in the literature.