Haberland, syndrome

[MIM 613 001]

(Fishman syndrome, encephalo-cranio-cutaneous lipomatosis)

Extremely rare. 

Sporadic neurocutaneous syndrome presenting with the association of unilateral or predominantly on one side of:

-         skin tumors: multiple small lipomatous tumors (nevus psiloparus) devoid of hair follicles, at the level of the face and the head. This causes more or less extended areas of alopecia on the scalp. There are sometimes small hamartomas.

-         brain abnormalities on the same side as the skin lesions: cerebral hemiatrophy, porencephalic cysts, ventricular dilatation with or without hydrocephalus, lipomas, partial agenesis of the corpus callosum, sometimes cortical calcifications

-         ocular lesions: epibulbar choristomas, scleral desmoid tumors, papules on the eyelids. dislocation of the lens; sometimes: coloboma, microphthalmia, calcifications


and


-         osseous anomalies: vertebral anomalies,  intra- or extradural lipomas, cystic bone tumors

-         mental retardation of varying importance

-        epilepsy.


Intramyocardial lipomas and optic gliomas  have been observed.


Anesthetic implications: 

mental retardation, epilepsy; spinal imaging is necessary if a neuraxial block is planned; ECG to exclude arrhythmias; echocardiography (lipomas ?)


References : 

-          Joswiak S, Pascual-Catroviejo I. 
Encephalocraniocutaneous lipomatosis (Haberland syndrome), 
In Neurocutaneous disorders: phakomatoses and hamartoneoplastic syndromes, edited by  Ruggieri M, Pascual-Castroviejo I, Di Rocco C. Springer 2008, p 517-25 

-         Pregowska K, Jurkiewicz E, Miszczak-Knecht M et al. 
Persistent multifocal atrial tachycardia in an infant with encephalocraniocutaneous lipomatosis : a case report. 
Eur J Pediatr 2014; 173:1577-80.

-        Kocak O, Yarar C, Carman KB.
Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder : report of additional three cases.
Childs Nerv Syst 2016 ; 32 : 559-62


Updated: February 2018