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

Roberta Milone; Chiara Aiello; Rosa Pasquariello; Anna Rubegni; Filippo Maria Santorelli; Roberta Battini; Enrico Bertini

doi:10.1055/s-0040-1715526

Journal of Pediatric Neurology, Table of Contents

Journal of Pediatric Neurology 2021; 19(02): 116-123
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

¹U.O. Neuropsichiatria Infantile, AULSS7 Pedemontana Regione Veneto, Thiene (VI), Italy

²Department of Developmental Neuroscience, Stella Maris Foundation, Scientific Institute for Research, Hospitalization and Healthcare, Pisa, Italy

,

Chiara Aiello

³Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Research Hospital, Scientific Institute for Research, Hospitalization and Healthcare, Rome, Italy

,

Rosa Pasquariello

²Department of Developmental Neuroscience, Stella Maris Foundation, Scientific Institute for Research, Hospitalization and Healthcare, Pisa, Italy

,

Anna Rubegni

⁴Molecular Medicine, Stella Maris Foundation, Scientific Institute for Research, Hospitalization and Healthcare, Pisa, Italy

,

Filippo Maria Santorelli

⁴Molecular Medicine, Stella Maris Foundation, Scientific Institute for Research, Hospitalization and Healthcare, Pisa, Italy

,

Roberta Battini‡^*

²Department of Developmental Neuroscience, Stella Maris Foundation, Scientific Institute for Research, Hospitalization and Healthcare, Pisa, Italy

⁵Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

,

Enrico Bertini‡^*

³Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Research Hospital, Scientific Institute for Research, Hospitalization and Healthcare, 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).

Keywords

Infantile neurodegeneration - developmental regression - leukodystrophy

Full Text

References

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