De Morsier syndrome associated with periventricular nodular heterotopia: case reporte

Arquivos de Neuro-Psiquiatria

Mônica Jaques Spinosa¹  Paulo Breno Noronha Liberalesso¹  Simone Carreiro Vieira¹  Alfredo Löhr Júnior¹ 

[1] ,Unidade de Neurologia Infantil Pequeno PríncipeCuritiba PR ,Brasil

关键词: De Morsier syndrome;    septo-optic dysplasia;    periventricular nodular heterotopia;    primary hypothyroidism;    síndrome de De Morsier;    displasia septo-óptica;    heterotopia nodular periventricular;    hipotireoidismo primário;   

DOI  :  10.1590/S0004-282X2007000400029

来源: SciELO

【 摘 要 】

INTRODUCTION: Septo-optic dysplasia (De Morsier syndrome) is defined as the association between optic nerve hypoplasia, midline central nervous system malformations and pituitary dysfunction. CASE REPORT: Third child born to nonconsanguineous parents, female, adequate pre-natal medical care, cesarean term delivery due to breech presentation, Apgar score 3 at the first minute and 8 at 5 minutes, symptomatic hypoglycemia at 18 hours. Neurological follow-up identified a delay in acquisition of motor and language developmental milestones. Epileptic generalized seizures began at 12 months and were controlled with phenobarbital. EEG was normal. MRI revealed agenesis of the pituitary stalk, hypoplasia of the optic chiasm and periventricular nodular heterotopia. Ophthalmologic evaluation showed bilateral optic disk hypoplasia. Endocrine function laboratory tests revealed primary hypothyroidism and hyperprolactinemia. CONCLUSION: The relevance of this case report relies on its uniqueness, since periventricular heterotopia had not been described in association with septo-optic dysplasia until 2006.

【 授权许可】

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