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Periventricular nodular heterotopia: report of a pediatric series
Alberto Spalice1, Grazia Taddeucci, Francesco Massimo Perla
1Pediatric Department, La Sapienza University, Rome, Italy.
Insights
Periventricular nodular heterotopia, a brain malformation, presents complex clinical and imaging features in children. Further research is needed to explore genetic factors beyond the FLN-1 gene.
Area of Science:
- Neuroscience
- Developmental Biology
- Genetics
Background:
- Periventricular nodular heterotopia (PNH) is a neuronal migration disorder.
- It is associated with diverse clinical and neuroradiologic findings in pediatric patients.
- The filamin-1 (FLN-1) gene has been implicated in PNH.
Observation:
- A series of five pediatric patients (3 males, 2 females; ages 4-18) with PNH were studied.
- PNH was observed alone or with cortical malformations.
- Epilepsy and mental retardation were present in some patients, with varying severity and laterality of PNH.
Findings:
- PNH can be a common feature across different conditions.
- Associated malformations appeared more severe in female patients.
- No mutations were found in tested FLN-1 exons, suggesting other genes may be involved in atypical cases.
Implications:
- The clinical, neurologic, and neuroradiologic spectrum of PNH is complex.
- Atypical PNH cases in children may involve genetic factors beyond FLN-1.
- Understanding PNH heterogeneity is crucial for diagnosis and management.
Abstract:
Periventricular nodular heterotopia is a malformation that occurs in both males and females and is associated with a variety of clinical and neuroradiologic signs. A gene called filamin-1 (FLN-1) has recently been identified. We review the clinical and imaging findings from a series of pediatric patients with periventricular nodular heterotopia. Five patients (three males and two females; age range = 4-18 years) were investigated. In our series, periventricular nodular heterotopia can be the common denominator in different conditions. Periventricular nodular heterotopia can occur alone or be associated with cortical malformations. Epilepsy was present in three of the five patients and was resistant to drugs in one female. Mental retardation was present in three of the five patients. Two male patients had normal intelligence, with no cortical anomalies; patient 3 had unilateral periventricular nodular heterotopia. The associated malformations were more severe in the female patients and slight only in patient 1. The two females showed anomalies rarely reported in association with bilateral periventricular nodular heterotopia. We believe that other genes can be involved in children with atypical neuroradiologic periventricular nodular heterotopia. No mutations were detected in 6 of the 48 exons of the FLN-1 gene, although this does not allow any definitive conclusions to be reached. We conclude that our series of patients with periventricular nodular heterotopia clearly highlights the complexity of the clinical, neurologic, and neuroradiologic characteristics associated with this malformation.