De Morsier syndrome associated with periventricular nodular heterotopia: case reporte

Abstract

-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 re�� port: 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. Con�� clusion: 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.KEy wOrDs: De Morsier syndrome, septo-optic dysplasia, periventricular nodular heterotopia, primary hypothyroidism.síndrome de De Morsier associada a heterotopia nodular periventricular: relato de caso rEsuMO -Introdução: Displasia septo-óptica (síndrome de De Morsier) é definida como a associação entre hipoplasia do nervo óptico, malformações de linha média do sistema nervoso central e disfunção pituitária. Relato de caso: terceiro filho, pais não consangüíneos, sexo feminino, pré-natal adequado, parto cesário a termo por apresentação pélvica, Apgar 3 no primeiro minuto e 8 no quinto minuto, hipoglicemia sintomática com 18 horas de vida. Durante o acompanhamento neurológico identificou-se atraso na aquisição dos marcos de desenvolvimento motor e linguagem. Crises epilépticas generalizadas iniciaram com 12 meses de vida sendo controladas com fenobarbital. EEG era normal. ressonância magnéti-ca revelou agenesia de haste pituitária, hipoplasia de quiasma óptico e heterotopia nodular periventricular. Avaliação oftalmológica demonstrou hipoplasia bilateral de disco óptico. Investigação da função endócrina revelou hipotireoidismo primário e hiperprolactinemia. Conclusão: A relevância deste relato reside em seu ineditismo, já que heterotopia periventricular não havia sido descrita em associação com displasia septo-óptica até 2006.PAlAvrAs-ChAvE: síndrome de De Morsier, displasia septo-óptica, heterotopia nodular periventricular, hipotireoidismo primário.unidade de Neurologia Infantil Pequeno Príncipe, Curitiba Pr, brasil (uNIPP):

Septo-Optic Dysplasia Complicated by Infantile Spasms and Bilateral Choroidal Fissure Arachnoid Cysts

“…Schizencephaly has been reported in 50% of patients with SOD 7 . Spinosa et al reported the association of SOD with periventicular nodular heterotopia that affected left frontal and bilateral parieto‐occipital regions in one case 8 . Persistent hyperplastic primary vitreous has also been described in association with SOD and schizencephaly 9 .…”

Periventricular Heterotopia in Common Microdeletion Syndromes

“…PH is also occasionally observed as a concomitant feature in a small number of syndromes [Sheen et al, 2005;Banerjee et al, 2006;Moro et al, 2006;Ruggieri et al, 2007;Spinosa et al, 2007] and chromosome disorders [Leeflang et al, 2003;Sheen et al, 2003;Ferland et al, 2006;Neal et al, 2006;Balci et al, 2007;Gawlik-Kuklinska et al, 2008;Grosso et al, 2008;Cardoso et al, 2009] including well-delineated conditions such as cri-du-chat syndrome and the 22q11 deletion syndrome [Tsao et al, 2005;Kiehl et al, 2008]. Several of these descriptions have prompted speculation that novel PH loci might lie within these deleted regions, invoking haploinsufficiency for a critical gene as the proposed mechanism [Sheen et al, 2003;Ferland et al, 2006;Neal et al, 2006;GawlikKuklinska et al, 2008], a contention strengthened by the characterisation of deletions that are larger than commonly seen in the 1p36 deletion syndrome and in Williams syndromes [Ferland et al, 2006;Neal et al, 2006;Saito et al, 2008].…”

The association of sphenoidal encephalocele and right anophthalmia with septo-optic dysplasia: a case report

“…This rare anomaly is seen at equal prevelance in both sexes, and its reported incidence is 1:10.000 births (10,5). SOD has a variable phenotypic expression (13). In addition to growth retardation, seizures, visual impairment, sleep disorder, precocious puberty, anosmia, sensorineural hearing loss, and cardiac anomalies frequently seen in SOD (14), we report a case without these signs, excep for right blindness due to right anophthalmia, and our case was noteworthy in this regard.…”