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Encephalocraniocutaneous Lipomatosis, a Radiological Challenge: Two Atypical Case Reports and Literature Review
Magdalena Machnikowska-Sokołowska1, Piotr Fabrowicz2, Jacek Pilch3
1Division of Diagnostic Imaging, Department of Radiology and Nuclear Medicine, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, Poland.
Encephalocraniocutaneous lipomatosis (ECCL), a rare congenital disorder, can be diagnosed through characteristic neuroimaging findings, even without typical skin and eye anomalies. This case report highlights diagnostic considerations for ECCL in pediatric patients presenting with neurological symptoms.
Area of Science:
- Medical Genetics
- Pediatric Neurology
- Radiology
Background:
- Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland syndrome, is an exceptionally rare congenital disorder.
- ECCL typically involves the skin, eyes, and central nervous system (CNS).
Purpose of the Study:
- To report two pediatric cases diagnosed with ECCL.
- To discuss the diagnostic utility of neuroimaging in identifying ECCL, particularly when classic external manifestations are absent.
Main Methods:
- Case report of two pediatric patients with suspected ECCL.
- Review of clinical presentations, including epilepsy, cerebral palsy, and developmental delay.
- Analysis of diagnostic imaging (neuroradiological) findings suggestive of ECCL.
Main Results:
- The first case involved an 8-year-old girl with symptomatic epilepsy, cerebral palsy, and developmental delay, showing radiological changes consistent with ECCL despite absent skin and eye anomalies.
- The second case, a 14-year-old girl, presented with subtle signs and epilepsy suspicion, exhibiting similar but less pronounced neuroradiological abnormalities.
- Diagnostic imaging revealed findings typical for Haberland syndrome in both patients.
Conclusions:
- ECCL diagnosis can be supported by characteristic neuroradiological abnormalities.
- Neuroimaging plays a crucial role in diagnosing ECCL, especially in atypical presentations lacking cutaneous and ocular involvement.
- These cases underscore the importance of considering ECCL in pediatric patients with neurological deficits and suggestive imaging findings.
