Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation

Renzo Guerrini, William B. Dobyns

Research output: Contribution to journalArticle

Abstract

Background and Objective: Bilateral periventricular nodular heterotopia (BPNH) is a recently recognized malformation of neuronal migration in which nodular masses of gray matter line the walls of the lateral ventricles. Most affected individuals are females with epilepsy and normal intelligence, but no other congenital anomalies. Studies in families with multiple affected individuals, always all females, have mapped one BPNH gene to chromosome Xq28. Several other BPNH syndromes associated with mental retardation and epilepsy but without significant dysmorphic facial features have been observed in males only, which may also be X-linked. This report describes a new syndrome with BPNH. Methods: Clinical and MRI study and cognitive testing of two unrelated boys, aged 8 and 5.5 years, and review of the enlarging spectrum of syndromes associated with BPNH. Results: Similarities between the two boys are sufficient to delineate a new multiple congenital anomaly- mental retardation syndrome that consists of BPNH, regional cortical dysplasia, mild mental retardation, and frontonasal malformation. Conclusions: The cause of this unusual syndrome is unknown; based on linkage of other BPNH syndromes to chromosome Xq28 and the report of possible X- linked inheritance of frontonasal malformation, we suspect the cause is genetic, with possible X-linked inheritance.

Original languageEnglish
Pages (from-to)499-503
Number of pages5
JournalNeurology
Volume51
Issue number2
Publication statusPublished - Aug 1998

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Periventricular Nodular Heterotopia
Intellectual Disability
X-Linked Genes
Epilepsy
Chromosomes
Malformations of Cortical Development
Lateral Ventricles
Frontonasal dysplasia
Intelligence

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation. / Guerrini, Renzo; Dobyns, William B.

In: Neurology, Vol. 51, No. 2, 08.1998, p. 499-503.

Research output: Contribution to journalArticle

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