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J Pediatr Genet 2023; 12(04): 335-338
DOI: 10.1055/s-0041-1731687
Case-Based Review

Utility of Neonatal Findings in Early Diagnosis of a Case of Haberland Syndrome

Morgan R. Sturgis    *
1   Rush Medical College, Chicago, Illinois, United States
,
Kathryn E. Wrobel   *
1   Rush Medical College, Chicago, Illinois, United States
,
Gianna N. Bosco
2   Department of Internal Medicine-Pediatrics, Rush University Medical Center, Chicago, Illinois, United States
,
Carolyn H. Jones
3   Division of Pathology and Pediatrics and Pediatric Clinical Genetics, Department of Cytogenetics, Rush Medical College of Rush University, Chicago, Illinois, United States
› Author Affiliations Funding None.
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Abstract

Haberland syndrome or encephalocraniocutaneous lipomatosis (ECCL) is a rare, congenital syndrome characterized by lipomas and noncancerous tumors of the scalp, skin, and eyes, in addition to intellectual disability, early onset seizures, and ectomesodermal dysgenesis. The diagnosis of ECCL is classically made by clinical presentation, imaging, and histopathological findings, but due to the spectrum of clinical presentation and symptom severity, diagnosis is often delayed until adolescence or adulthood. Here we present a newborn male infant, one of the earliest case diagnoses to our knowledge, with a unique constellation of physical exam and neuroimaging findings consistent with this diagnosis. We aim to address important neonatal findings to aid in early detection and diagnosis of this unique disease, which is thought to improve clinical outcomes and patient quality of life.

Keywords

Haberland syndrome - encephalocraniocutaneous lipomatosis - neonatal - nevus psiloliparus - mosaicism

* These authors contributed equally to this work.




Publication History

Received: 20 January 2021

Accepted: 30 May 2021

Article published online:
19 July 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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