Journal of Pediatric Neurology
DOI: 10.1055/s-0040-1715526
Case Report

Reconsidering NMIHBA Core Features: Macrocephaly Is Not a So Unusual Sign in PRUNE1-Related Encephalopathy

Roberta Milone
1  U.O. Neuropsichiatria Infantile, AULSS7 Pedemontana Regione Veneto, Distretto 2 Alto Vicentino, Thiene (VI), Italy
2  Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy
,
Chiara Aiello
3  Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy
,
Rosa Pasquariello
2  Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy
,
Anna Rubegni
4  Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy
,
Filippo Maria Santorelli
4  Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy
,
Roberta Battini*
2  Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy
5  Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy
,
Enrico Bertini*
3  Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy
› Author Affiliations

Abstract

PRUNE1-related disorders manifest as severe neurodevelopmental conditions associated with neurodegeneration, implying a differential diagnosis at birth with static encephalopathies, and later with those manifesting progressive brain damage with the involvement of both the central and the peripheral nervous system.

Here we report on another patient with PRUNE1 (p.Asp106Asn) recurrent mutation, whose leukodystrophy, inferior olives hyperintensity, and macrocephaly led to the misleading clinical suspicion of Alexander disease. Clinical features, together with other recent descriptions, suggest avoiding the term “microcephaly” in defining this disorder that could be renamed “neurodevelopmental disorder with progressive encephalopathy, hypotonia, and variable brain anomalies” (NPEHBA).

* These authors equally contributed as senior investigators.




Publication History

Received: 10 May 2020

Accepted: 15 June 2020

Publication Date:
07 September 2020 (online)

Georg Thieme Verlag KG
Stuttgart · New York