Encephalocraniocutaneous lipomatosis (ECCL): clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Encephalocraniocutaneous lipomatosis (ECCL): clinical features. Developmental delay, Mental retardation, Epilepsy. Fully referenced neurology checklist.
Neurological features
- Developmental delay
- Mental retardation
- Epilepsy
- Contralateral weakness
- Contralateral spasticity
Intracranial lesions
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Cutaneous features
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Ocular features
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Systemic features
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Associated tumours
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Synonyms
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References
- Özdoğan S, Saymaz C, Yaltırık CK, et al. Encephalocraniocutaneous lipomatosis: Haberland syndrome. Am J Case Rep 2017; 18:1271-1275.
- Valladares MJ, Blanco MJ, Lopez-Lopez F, Gonzalez F. Bilateral ocular involvement in encephalocraniocutaneous lipomatosis. Eur J Paediatr Neurol 2007; 11:108-110.
- Moog U, Jones MC, Viskochil DH, Verloes A, Van Allen MI, Dobyns WB. Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A 2007; 143A:2963-2972.
- Jain P, Chakrabarty B, Kumar A, Gupta N, Kabra M, Gulati S. Encephalocraniocutaneous lipomatosis with neurocutaneous melanosis. J Child Neurol 2014; 29:846-849.
- Chandravanshi SL. Encephalocraniocutaneous lipomatosis: a case report and review of the literature. Indian J Ophthalmol 2014; 62:622-627.
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