Encephalocraniocutaneous Lipomatosis

Last update 08 May 2025

Basic Info

Synonyms

ECCL, ECCL - Encephalocraniocutaneous lipomatosis, ECCL - encephalocraniocutaneous lipomatosis

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Introduction

A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations.

100 Clinical Results associated with Encephalocraniocutaneous Lipomatosis

100 Translational Medicine associated with Encephalocraniocutaneous Lipomatosis

0 Patents (Medical) associated with Encephalocraniocutaneous Lipomatosis

183

Literatures (Medical) associated with Encephalocraniocutaneous Lipomatosis

01 Mar 2025·BMJ Case Reports

Metachronous tumour (DNET and haemorrhagic chiasmal tumour) in a patient with encephalocraniocutaneous syndrome (ECCL)

Article

Author: Mishra, Biswa Mohan ; Suri, Ashish ; Garg, Ajay ; Nayak, Manoj Kumar

Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous multisystem disorder affecting ectodermal and mesodermal tissues, including the eyes, skin, adipose tissue and the brain. It is hypothesised to be a neural crest disorder. While ECCL presents with various neurological features, the occurrence of brain tumour is an extremely rare association. Here, we report a case of metachronous tumours comprising a dysembryoplastic neuroepithelial tumour (DNET) and a haemorrhagic chiasmal tumour in a patient with ECCL. To the best of our knowledge, this is the first documented case of ECCL presenting with subarachnoid haemorrhage (SAH) in the suprasellar region due to a tumorous bleed. A woman in her mid-20s presented with a sudden onset headache and altered sensorium. Non-contrast CT of the brain showed a focal bleed in the suprasellar region with gyriform cortical calcification in the left temporoparietal lobe and left optic globe calcification. Digital subtraction angiography was inconclusive. MRI of the brain showed intracranial and intraspinal lipomas with changes suggestive of previous surgery in the left temporal lobe. A focal bleed was noticed in the optic chiasm and pial angiomas in the left temporoparietal lobe. The patient had a history of a left temporal arachnoid cyst and dysplastic left temporal lobe, for which she underwent a left temporal lobectomy to manage drug-refractory epilepsy. Histopathological examination of the resected tissue revealed a DNET with focal cortical dysplasia. The diagnosis of ECCL was established, with associated metachronous tumours identified at multiple locations in the brain. The presence of a metachronous tumour in a patient with ECCL is a rare occurrence. Hence, clinicians should maintain a high index of suspicion and ensure that such patients are monitored through long-term follow-up, with regular screening to facilitate the early detection of a second tumour.

01 Jan 2025·Iranian journal of child neurology

Haberland Syndrome (Encephalocraniocutaneous Lipomatosis): A Case Report and Review of Literature.

Article

Author: Sadat Sadeghzadeh, Masoumeh ; Mohammadpour, Masoud ; Torabi, Ala ; Pak, Neda ; Zamani, Fatemeh ; Shervin Badv, Reza

Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland syndrome, is a rare, nonhereditary, nonprogressive congenital neurocutaneous syndrome with underlying ectodermal dysgenesis. The classic triad of this syndrome is central nervous system (CNS), ocular, and cutaneous involvement as unilateral lipomatous lesions of the scalp, neck, and face with ipsilateral brain anomalies and ipsilateral ocular choristoma. Herein, this study reports a case of a 2-year-old boy presented with status epilepticus for the first time. Intraspinal lipoma, arachnoid cyst, cerebral hemiatrophy, asymmetric hydrocephaly, choristoma, and corneal clouding were noted. This case fulfilled Moog's clinical criteria for diagnosis of Haberland syndrome. Additionally, this study introduces linear and whorled nevoid hypermelanosis and cerebral periventricular white matter hyperintensity as novel manifestations of this syndrome.

01 Jan 2025·Case Reports in Radiology

Adult Presentation of Dyke–Davidoff–Masson Syndrome, a Radiological Enigma: A Case Report

Article

Author: Paudel, Suman ; Rokaha, Pratik Singh ; Rokaha, Prerana Singh ; Pokharel, Rhijuta ; Acharya, Ankit ; Luitel, Ashaya

Introduction and Importance: Dyke–Davidoff–Masson syndrome (DDMS) is a rare neurological condition characterized by focal or generalized drug‐resistant epilepsy, hemiparesis, face or body asymmetry with atrophy, and cognitive impairment in early childhood and adulthood. DDMS is generally diagnosed in the paediatric age group. Neuroimaging shows skull bone thickening with cerebral hemiatrophy and hyperpneumatization of sinuses.Case Presentation: Here is a case of a middle‐aged female presenting with a history of multiple episodes of seizure since childhood. MRI showed diffuse atrophy of the left cerebral hemisphere with hypertrophy of the contralateral hemisphere, hyperpneumatization of the left frontal sinus, and thickened calvaria, all characteristics of DDMS. Based on the history, clinical findings, and MRI reports, it was diagnosed as a case of DDMS.Discussion: DDMS can be due to injury to the brain, either intrauterine or during early childhood. The features can be confused with other conditions like Rasmussen encephalitis, hemiconvulsion‐hemiplegia‐epilepsy (HHE syndrome), Sturge–Weber syndrome, Silver–Russell syndrome, basal ganglia germinoma, Fishman syndrome, and linear nevus syndrome. Before making a diagnosis, a proper antenatal and postnatal history with early childhood presentations should be taken. Occupational therapy, physiotherapy, and seizure control improve the patient’s quality of life.Conclusion: Though DDMS is usually diagnosed during early childhood, a few missed cases lead to later findings in life, resulting in late medical consults and affecting an individual’s lifestyle. Management includes only symptomatic relief. Paediatricians, radiologists, neurologists, and gynaecologists need to be well‐informed about the case for its early diagnosis and management.

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Encephalocraniocutaneous Lipomatosis

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