Encephalocraniocutaneous Lipomatosis, a Radiological Challenge: Two Atypical Case Reports and Literature Review

Encephalocraniocutaneous lipomatosis (ECCL; Haberland syndrome, #613001) is an extremely rare congenital disorder that is manifested by the involvement of the skin, eyes and central nervous system (CNS). We report two cases of children with ECCL diagnosis. First was an 8-year-old girl who presented...

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Bibliographic Details
Published in:Brain sciences 2022-11, Vol.12 (12), p.1641
Main Authors: Machnikowska-Sokołowska, Magdalena, Fabrowicz, Piotr, Pilch, Jacek, Roesler, Weronika, Kuźniak, Mikołaj, Gruszczyńska, Katarzyna, Paprocka, Justyna
Format: Article
Language:English
Subjects:
Age
Asymmetry
Calcification
Case reports
Central nervous system
child brain
Childbirth & labor
Congenital diseases
Consciousness
Convulsions & seizures
Cysts
Diagnosis
Ear diseases
ECCL
encephalocraniocutaneous lipomatosis
Epilepsy
Haberland syndrome
Lipomatosis
Literature reviews
Magnetic resonance imaging
Middle ear
MRI
Nervous system
neuroimaging
Paralysis
Paresis
Patients
Seizures
Skin
Work stations
Citations: Items that this one cites
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Summary:Encephalocraniocutaneous lipomatosis (ECCL; Haberland syndrome, #613001) is an extremely rare congenital disorder that is manifested by the involvement of the skin, eyes and central nervous system (CNS). We report two cases of children with ECCL diagnosis. First was an 8-year-old girl who presented with symptomatic epilepsy, cerebral palsy and developmental delay. In 2020, she was admitted to the hospital due to the exacerbation of paresis and intensified prolonged epileptic seizures, provoked by infection of the middle ear. Diagnostic imaging revealed radiological changes suggestive of ECCL, providing a reason for the diagnosis, despite the lack of skin and eye anomalies. The second child, a 14-year-old girl, was consulted for subtle clinical signs and epilepsy suspicion. Diagnostic imaging findings were similar, though less pronounced. Based on neuroradiological abnormalities typical for Haberland syndrome, the authors discuss possible ECCL diagnosis.
ISSN:2076-3425
2076-3425
DOI:10.3390/brainsci12121641