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Journal of Pediatric Neurology 2018; 16(05): 369-378
DOI: 10.1055/s-0038-1667004
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Encephalocraniocutaneous Lipomatosis (Haberland Syndrome or Fishman Syndrome)

Maria Teresa Garozzo
1   Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
,
Daniele Attardo
1   Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
,
Pierluigi Smilari
2   Unit of Clinical Pediatrics, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
,
Filippo Greco
2   Unit of Clinical Pediatrics, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
,
Agata Fiumara
2   Unit of Clinical Pediatrics, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
,
Agata Polizzi
3   Instiute of Neurological Science, National Research Council, Catania, Italy
,
Andrea D. Praticò
1   Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
4   Maurice Wohl Clinical Neuroscience Institute, King's College London, London, United Kingdom
,
Marina Mazzurco
1   Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
,
Concetta Pirrone
5   Section of Psychology, Department of Educational Sciences, University of Catania, Catania, Italy
,
Antonio Zanghì
6   Department of Medical and Surgical Sciences and Advanced Technology “G.F. Ingrassia,” University of Catania, Catania, Italy
,
Carmelo Schepis
7   Unit of Dermatology, Oasi Research Institute-IRCCS, Troina, Enna, Italy
,
Francesco Lacarrubba
8   Dermatology Clinic, University of Catania, Catania, Italy
,
Giuseppe Micali
8   Dermatology Clinic, University of Catania, Catania, Italy
,
Martino Ruggieri
1   Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
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23. Mai 2018

04. Juni 2018

Publikationsdatum:
20. August 2018 (online)

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Abstract

Encephalocraniocutaneous lipomatosis is a sporadic, congenital neurocutaneous disorder characterized by the involvement of skin, central nervous system, and eye. A non-hereditary, autosomal mutation that may survive only in a mosaic state may be the cause of the clinical picture of the syndrome. Less than 80 patients have been so far reported and their clinical manifestations consisted of unilateral lipomatous hamartoma of the scalp or eyelid, epibulbar choristomas, and ipsilateral brain malformations. There is no clinical correlation between the severity of brain malformations and the clinical manifestations, and many patients with extremely extensive cerebral abnormalities are only minimal symptomatic. Seizures and mental retardation may also occur. The natural history is often favorable, without drug-resistant seizures and normal intelligence in most of the cases.

Keywords

encephalocraniocutaneous lipomatosis - Haberland syndrome - Fishman syndrome - epibulbar choristomas - brain malformations - seizures