Indian Journal of Nuclear Medicine

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Year
: 2019  |  Volume : 34  |  Issue : 2  |  Page : 160--161

18F-fludeoxyglucose positron-emission tomography/computed tomography in encephalocraniocutaneous lipomatosis/haberland syndrome


Sarthak Tripathy1, Madhavi Tripathi1, Manjari Tripathi2, Nishikant Avinash Damle1, Chandrasekhar Bal1,  
1 Department of Nuclear Medicine, All India Institute of Medical Sciences, New Delhi, India
2 Department of Neurology, All India Institute of Medical Sciences, New Delhi, India

Correspondence Address:
Madhavi Tripathi
Associate Professor, Department of Nuclear Medicine, All India Institute of Medical Sciences, New Delhi - 110 029
India

Abstract

Encephalocraniocutaneous lipomatosis (ECCL) is a rare disorder and its clinical presentation constitutes a classic triad of the skin, ocular, and central nervous system involvement. We discuss the 18F-fludeoxyglucose positron-emission tomography/computed tomography findings of an 11-year-old boy with ECCL and drug refractory epilepsy.



How to cite this article:
Tripathy S, Tripathi M, Tripathi M, Damle NA, Bal C. 18F-fludeoxyglucose positron-emission tomography/computed tomography in encephalocraniocutaneous lipomatosis/haberland syndrome.Indian J Nucl Med 2019;34:160-161


How to cite this URL:
Tripathy S, Tripathi M, Tripathi M, Damle NA, Bal C. 18F-fludeoxyglucose positron-emission tomography/computed tomography in encephalocraniocutaneous lipomatosis/haberland syndrome. Indian J Nucl Med [serial online] 2019 [cited 2019 Sep 16 ];34:160-161
Available from: http://www.ijnm.in/text.asp?2019/34/2/160/255607


Full Text



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 1]a. 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 1]b and [Figure 1]c. The child was referred for 18 F-fludeoxyglucose positron-emission tomography/CT (18 F-FDG PET/CT) which revealed hypometabolism in the right frontal, parietal, and anterior temporal cortices [[Figure 1]d, [Figure 1]e, [Figure 1]f white arrows] corresponding to the areas of gyral calcifications and cortical dysplasias on NCCT and MRI, respectively.{Figure 1}

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.[2],[3] 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.18 F-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 [5],[6] in 17% of cases. Hemispheric hypometabolism on 18 F-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.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

References

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