Septo-optic dysplasia complex: clinical and radiological manifestations in Omani children

Septo-optic dysplasia [SOD], also known as de-Morsier's syndrome, is a rare disorder characterized by any combination of optic nerve hypoplasia [ONH], pituitary gland hypoplasia, and midline abnormalities of the brain including absence of septum pellucidum and corpus callosum dysgenesis. It is typically diagnosed in infancy and has a variable presentation that includes visual, neurologic, and/or hypothalamic-pituitary endocrine deficits. To demonstrate the ophthalmic, endocrine, and neurologic spectrum of SOD in five Omani children and address the crucial role of high-resolution neuroimaging for its early and accurate diagnosis. A retrospective chart review was performed in 2010 of all children in the pediatric ophthalmology database of Sultan Qaboos University Hospital [SQUH] who were diagnosed to have ONH. All relevantdemographic, ophthalmic, neurologic, endocrine, and neuro-radiological manifestations were recorded in a data collection form. All previous neuroimaging results were reviewed by a neuro-radiologist. Five patients [four males, one female] with the diagnosis of ONH were included in the study. They presented during the period 1998-2008. All patients were born at term, with normal birth weights to healthy mothers with insignificant antenatal history. Age at presentation ranged from three months to one year. Manifestations at presentation included severe visual impairment [5/5], neonatal hypoglycemia [3/5], seizure disorder [2/5], and failure to thrive [4/5]. ONH was bilateral in 3/5 patients and unilateral in [2/5]. Brain and orbit imaging revealed varying anomalies in all patients. These included absent septum pellucidum [3/5], severe corpus callosum agenesis [1/5], ectopic pituitary [5/5], falx cerebri deficiency [1/5], optic nerve hypoplasia [5/5], optic chiasmal hypoplasia [5/5], and olfactory tract hypoplasia [1/5]. Endocrine deficits were detected in 4/5 patients [3 with panhypopituitarism, and 1 with growth hormone deficiency] and necessitated replacement therapy. SOD is a clinically heterogeneous disorder with a wide spectrum of ophthalmic, endocrine, and neurologic manifestations. All features might not be present in a single patient. A high consanguinity rate and lack of history of alcohol and drug use were observed in our cohort. Most affected children present first to the pediatrician with failure to thrive. Radiological confirmation of ONH necessitates high-resolution imaging and interpretation by an experienced neuro-radiologist. In our cohort, all patients with ONH had associated optic chiasmal hypoplasia. Early detection and treatment reduces disease-related morbidity, and can be life saving

Brain Imaging Studies in Leber's Congenital Amaurosis: New Radiologic Findings Associated with the Complex Trait

PURPOSE: To report the incidence and new findings of abnormal brain imaging studies associated with patients initially diagnosed with Leber's congenital amaurosis (LCA) without definite systemic abnormalities and to determine the need for brain imaging studies in these patients. METHODS: A retrospective review of medical records was performed in 83 patients initially diagnosed as LCA and without definite systemic abnormalities before the age of 6 months in 2 tertiary referral centers. Brain magnetic resonance imaging was performed in 31 of 83 patients (37.3%). RESULTS: Six of 31 patients (19%) had radiologically documented brain abnormalities. Two patients had cerebellar vermis hypoplasia, 1 patient showed an absence of septum pellucidum, 2 subjects showed mild external hydrocephalus, and 1 patient was found to have a small cerebellum. CONCLUSIONS: Approximately one fifth of the LCA patients in whom brain imaging was performed were associated with brain abnormalities, including the absence of septum pellucidum, which has not been documented in the literature. Brain imaging is mandatory in patients primarily diagnosed with LCA, even without definite neurologic or systemic abnormalities.

Dilatación del cavum Vergae en el feto: dos casos clínicos y revisión de la literatura / Dilated cavum Vergae in the fetus: two clinical cases and literature review

Comunicamos el diagnóstico prenatal de dos casos de dilatación del cavum Vergae. También revisamos la literatura acerca de lesiones anecogénicas intracerebrales supratentoriales interhemisféricas, con el propósito de establecer criterios de diagnóstico diferencial antenatal y determinar su pronóstico.

Septo-optic dysplasia: case report

The clinical triad of septo-optic dysplasia (SOD) comprises the abscence of the septum pellucidum, congenital optic nerve dysplasia, and multiple endocrine disorders. When any two of these factors are present, the condition is defined as an imcomplete form of SOD. The authors report the case of an imcomplete form of SOD in a 9-year old boy with low vision and nystagmus present from birth. The bilateral ophthalmoscopic examination revealed small papillae with double countour images. Magnetic resonance imaging showed hypoplasia of the optic nerve bilaterally, chiasm and absence of the septum pellucidum.

Acesso endoscópico transepto-interforniceal para cistos colóides: relato de caso / Endoscopic transepto-interforniceal approach to colloid cysts: case report

A abordagem endoscópica de cistos colóides ainda é matéria controversa. As opçoes de tratamento sao variadas: observaçao com exames seriados, tratamento da hidrocefalia, aspiraçao por estereotaxia, microcirurgia e endoscopia. O autor relata o caso de um paciente com cisto colóide do terceiro ventrículo, localizado em posiçao retroforaminal, no teto diencefálico, dissecando os dois fornices projetando-se supero-posteriormente em direçao ao assoalho do ventrículo lateral, por dentro do cavum do septo pelúcido. A lesao foi alcançada com neuroendoscópio rígido, através de um orifício de trépano pré-coronal situado a 2,5 cm da linha média (ponto de Kocher). Seguindo por via transventricular, a lâmina direita do septo pelúcido foi aberta, posterior à veia septal. A lesao, muito endurecida, situada entre os dois fórnices, foi parcialmente ressecada através da via endoscópica transventricular transepto-interforniceal. Realizamos também septostomia e terceiro ventriculostomia endoscópicas neste paciente. Os diferentes tipos de procedimentos cirúrgicos das patologias situadas no terceiro ventrículo sao discutidos com ênfase no papel da endoscopia

Displasia Septo-optica (Síndrome de Morsier): A propósito de un caso / Septo-optic dysplasia (Morsier's syndrome): Apropos of a case

Lactante menor, sexo femenino, con asociación de anomalías congénitas que incluyeron hipoplasia bilateral del nervio óptico, agenesia del septum pellucidum y diábetes insípida central, entre otras manifestaciones menores. La agenesia del septum pellucidum demostrada por resonancia magnética cerebral, así como la hipoplasia del nervio óptico por fondo de ojo. Manifestaciones renales, en particular las derivadas de la diábetes insípida respondieron con la Lisina-Vasopresina, desapareciendo el cuadro de emenis persistente y acidosis sistémica. La valoración pediátrica evidenció un retraso psicomotor y déficit pondoestatural significativos. Paciente cumple en la actualidad con sus controles especializados