Purpose or Case Report:
A 14 year old girl has had multiple congenital anomalies since infancy. She has redundant nuchal skin, low set and posteriorly rotated ears with narrow canals; with hypertrophic cardiomyopathy and pulmonic stenosis. She developed a large hemangioma in her right parotid region. She also had tracheomalacia and significant feeding difficulties.
Methods & Materials:
MRI of neural axis in infancy demonstrated multiple intracranial lipomas in the basal cisterns (cervicomedullary and trigeminal), a thinned out corpus callosum, a paraspinal lipoma and tethered cord. Incidental note was made of unilateral pelvicaliectasis due to reflux pathology confirmed on a voiding cystourethrography. Routine follow up imaging at 6 years of age revealed a tectal plate glioma extending into bilateral thalami with resultant mild obstructive hydrocephalus. Genetic evaluation suggested a pathogenic variant in FGFR1 gene (c.1685A>C, p.E562A)
Results:
Encephalocraniocutaneous lipomatosis (ECCL), formerly known as Fishman/Haberland syndrome, is a rare neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) abnormalities. The condition, caused primarily by postzygotic somatic mutations in the fibroblast growth factor receptor 1 (FGFR1) gene, has been reported in approximately 60 cases with diverse clinical presentations. A distinctive clinical feature is the presence of a circumscribed area of congenital alopecia on the scalp, known as nevus psiloliparus. In addition to characteristic intracranial lipomas, often located in the cerebellopontine angle, and paraspinal lipomas, CNS abnormalities include cortical dysplasia, cerebellar hypoplasia, thinning of the corpus callosum, and intracranial calcifications. Clinical manifestations typically encompass varying degrees of psychomotor retardation (may have normal intelligence in one third of the cases). Affected individuals are at an increased risk of brin tumors, especially low grade gliomas. Ocular involvement frequently manifests as non-neoplastic choristoma/epibulbar dermoid, and less commonly as microphthalmia, hypoplastic iris, or eyelid coloboma. Furthermore, ECCL is occasionally associated with acyanotic congenital heart diseases such as septal defects and aortic abnormalities.
Conclusions:
While being extremely rare, multiple intracranial lipomas & low grade gliomas with a nevus psiloliparus should raise the suspicion for this condition and a prompt genetic evaluation be pursued for appropriate management and prognostication.