Encephalocraniocutaneous lipomatosis: A rare congenital neurocutaneous syndrome

Pathak, Swasti; Garg, Anju; Kumar, Jyoti

doi:10.1016/j.radcr.2020.02.008

Cited by 3 publications

(3 citation statements)

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“…However, it is located in the frontal cortex in our patient, with associated polymicrogyria. Pathak et al have previously described the presence of polymicrogyria in their report [6]. Patients can have normal development without seizures [8], as in our patient; however, there are others with normal development but with seizures, and some have mental retardation of various degrees [2].…”

Section: Discussionsupporting

confidence: 62%

“…There is no gender or geographical preponderance, and the lesions are usually unilateral [4,5]. The pathogenesis involves a sporadic mutation to the FGFR1 gene that is involved in making a protein called fibroblast growth factor receptor that triggers signaling within cells, which in turn is important for the development of several parts of the body including the brain [6].…”

Section: Discussionmentioning

confidence: 99%

“…Although progression or late development of prosencephalic cysts, cerebrovascular aneurysms, and cystic bone lesions has been reported, the hallmark of the disease is benign central nervous system (CNS) lipomas that are generally stable throughout life [4]. In ECCL, the common location of the lipomatous mass is at the cerebellopontine angle, while it is located in the hemispheres in other diseases [2,6,7]. However, it is located in the frontal cortex in our patient, with associated polymicrogyria.…”

Section: Discussionmentioning

confidence: 99%

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Encephalocraniocutaneous Lipomatosis: A Case Report and Literature Review

Subbiah¹,

Asiff²,

Hamzah³

et al. 2022

Cureus

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Encephalocraniocutaneous lipomatosis (ECCL) or Haberland syndrome is a neurocutaneous disorder of the skin, eye, and central nervous system. A three-month-old girl was referred to our center for further management of a large left eye corneal dermoid. At birth, a small lesion was noted. Magnetic resonance imaging (MRI) around the first week of life showed an extraocular dermoid cyst measuring 1 mm x 7 mm, dysplasia of the left greater wing of sphenoid, closed-lip schizencephaly of the left parietal lobe, and polymicrogyria. During examination under anesthesia at our center, we found that the corneal dermoid had grown in size to 17 mm x 16 mm, with posterior embryotoxon, a hazy cornea, and intraocular pressure of 26 mmHg. With the anterior segment dysgenesis and secondary glaucoma, we started Gutt Timo-Comod BD. Serial MRI imaging at four months of age revealed further enlargement of the dermoid, a new left retrobulbar mass, and multiple intracranial lipomas. A diagnosis of ECCL was made at this point based on the MRI and clinical findings. A multidisciplinary meeting was held among ophthalmology, neurosurgery, radiology, and otorhinolaryngology (ORL) teams, which concluded that surgical intervention such as tumor debulking might cause more harm than benefit. Hence, she was planned to undergo close monitoring with serial MRIs and only for surgical intervention, in the presence of airway compression or any neurological deficits. The ophthalmologist should be aware of the specific radiological and clinical findings in ECCL as management of the condition would be best through a multidisciplinary approach.

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Section: Discussionsupporting

confidence: 62%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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