Self-aggression and congenital clubfoot: additional features to the septo-optic dysplasia complex

Lin, Jaime; Peruchi, Mirella Maccarini; Masruha, Marcelo Rodrigues; Pacheco, Juliana Pinto; Vilanova, Luiz Celso Pereira

doi:10.1590/s0004-282x2009000200025

Arq. Neuro-Psiquiatr.

2009

DOI: 10.1590/s0004-282x2009000200025

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Self-aggression and congenital clubfoot: additional features to the septo-optic dysplasia complex

Jaime Lin

Mirella Maccarini Peruchi

Marcelo Rodrigues Masruha

et al.

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Cited by 2 publications

References 10 publications

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Neuropsychiatric Disease in Patients With Periventricular Heterotopia

Fry¹,

Kerr²,

Gibbon³

et al. 2013

JNP

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Periventricular heterotopia (PH) is a disorder of neuronal migration. Previous clinical reports of PH have largely focused on the seizure-related and neurodevelopmental consequences of this condition. The authors report four unrelated individuals with PH, with particular emphasis on their behavioral and psychiatric morbidity. A review of the literature suggests that neuropsychiatric presentations are an underrecognized consequence of PH. Clinicians need to be alert to psychiatric complications associated with PH and related disorders of neuronal migration.

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Neuropsychiatric Disease in Patients With Periventricular Heterotopia

Fry¹,

Kerr²,

Gibbon³

et al. 2013

JNP

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Bipolar disorder with Melnick–Needles syndrome and periventricular nodular heterotopia: two case reports and a review of the literature

et al. 2021

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Background Melnick–Needles syndrome and periventricular nodular heterotopia are two usually mutually exclusive phenotypes of F-actin-binding cytoskeletal phosphoprotein Filamin-A mutations. Melnick–Needles syndrome is a rare X-linked condition that is lethal in males and shows great phenotypic variability in affected females. It is caused by mutations in Filamin-A gene, which encodes the protein Filamin A. Defects of the human Filamin-A gene also cause X-linked periventricular nodular heterotopia, a malformation of neuronal migration characterized by nodules of neurons in inappropriate location adjacent to the walls of the lateral ventricles. Case presentation We report on two Caucasian adolescent females, sisters, diagnosed with Melnick–Needles syndrome and bilateral periventricular nodular heterotopia, who developed bipolar disorder and somatic symptoms disorder at a young age. We also present a review of the literature about mental disorders associated with periventricular nodular heterotopia. Our report shows that patients presenting with atypical and heterogeneous psychiatric disease may have an underrecognized anatomical brain abnormality on genetic basis. Conclusions We found records of psychiatric disorders associated with periventricular nodular heterotopia; nevertheless, this is the first report of bipolar disorder occurring in individuals with periventricular nodular heterotopia, and the first report of any psychiatric disorder in individuals affected by Melnick–Needles syndrome. In conclusion, this case report may contribute to characterizing the phenotype of this very rare syndrome.

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Self-aggression and congenital clubfoot: additional features to the septo-optic dysplasia complex

Cited by 2 publications

References 10 publications

Neuropsychiatric Disease in Patients With Periventricular Heterotopia

Neuropsychiatric Disease in Patients With Periventricular Heterotopia

Bipolar disorder with Melnick–Needles syndrome and periventricular nodular heterotopia: two case reports and a review of the literature

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