title: De Morsier syndrome associated with periventricular nodular heterotopia: case report.
abstract: BACKGROUND
  Septo-optic dysplasia (De Morsier syndrome) is defined as the association between optic nerve hypoplasia, midline central nervous system malformations and pituitary dysfunction.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors: Unidade de Neurologia Infantil Pequeno Príncipe, 80820-140 Curitiba, PR, Brazil. monicaspinosa@yahoo.com
authors: Mônica Jaques
authors: MJ
authors: Spinosa
authors: Paulo Breno Noronha
authors: PB
authors: Liberalesso
authors: Simone Carreiro
authors: SC
authors: Vieira
authors: Alfredo
authors: A
authors: Löhr
mesh_terms: D004569:Electroencephalography; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007030:Hypothalamo-Hypophyseal System / Q000473:pathology; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D009154:Mutation / Q000235:genetics; D054091:Periventricular Nodular Heterotopia / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D010641:Phenotype; D025962:Septo-Optic Dysplasia / Q000150:complications* / Q000235:genetics / Q000473:pathology; D013577:Syndrome
chemical_list: C489736:HESX1 protein, human; D018398:Homeodomain Proteins