Aicardi syndrome is a neurodevelopmental disorder characterized by a triad of partial or complete agenesis of the corpus callosum, infantile spasms, and pathognomonic chorioretinal lacunae. Examination, multimodal imaging, and genetic testing were used to guide diagnosis. We report a case of a pediatric patient who was initially diagnosed with refractory infantile spasms. The patient was unresponsive to conventional antiepileptic therapy, and genetic testing with whole exome and mitochondrial genome sequencing could not identify the underlying cause, so vigabatrin was initiated. The ophthalmic examination under anesthesia for vigabatrin toxicity screening revealed chorioretinal atrophy in the retinal periphery of both eyes, with two 3-disc diameter chorioretinal lacunae superotemporal and inferonasal to the optic nerve in the left eye. Given the neuroimaging findings of corpus callosum hypoplasia with polymicrogyria and ocular findings, the patient was diagnosed with Aicardi syndrome. Genetic testing revealed a novel duplication event at the Xp22 locus. Aicardi syndrome, albeit a rare condition, should always be considered in the differential diagnosis when investigating a female child with refractory seizures in early childhood. Genetic testing may help further our understanding of AIS and the search for a genetic etiology.

Septo optic dysplasia plus is a rare disease seen in children. Its diagnosis is radiological, based on brain magnetic resonance imaging (MRI). We report the case of a child aged 2 years and 4 months, with no particular pathological history; who consulted for psychomotor retardation, strabismus and low vision behavior. An endocrine biological assessment exploring the hypothalomo-pituitary function was carried out, revealing no abnormality. The diagnosis of septo-optic dysplasia plus was retained on the brain MRI data, in front of the agenesis of the septum pellucidum and of the splenium of the corpus callosum, the hypoplasia of the optic pathways and of the pituitary stalk as well as in front of the agenesis of the posterior pituitary. It was associated with a closed schizencephaly. Septo-optic dysplasia is a rare congenital malformation. Our objective is to recall its semiology in imaging and to underline the importance of MRI to establish the diagnosis. Septo-optic dysplasia is a rare clinical entity typically involving midline brain abnormalities, optic nerve hypoplasia, and pituitary insufficiency. The association with cortical malformations such as schizencephaly and polymicrogyria denotes the term septo-optic dysplasia plus. Advances in imaging currently allow early diagnosis, which is essential for adequate management. Antenatal ultrasound may suspect dysplasia, and brain MRI confirms the diagnosis. La dysplasie septo optique plus est une pathologie rare qui se voit chez l´enfant. Son diagnostic est radiologique, reposant sur l'imagerie par résonnance magnétique (IRM) cérébrale. Nous rapportons le cas d´un enfant âgé de 2 ans et 4 mois, sans antécédents pathologiques particuliers, qui a consulté pour un retard psycho moteur, un strabisme et des comportements de malvoyance. Un bilan biologique endocrinien explorant la fonction hypothalomo-hypophysaire a été réalisé, ne révélant pas d´anomalie. Le diagnostic de dysplasie septo-optique plus a été retenu sur les données de l´IRM encéphalique, devant l´agénésie du septum pellucidum et du splénium du corps calleux, l´hypoplasie des voies optiques et de la tige pituitaire ainsi que devant l´agénésie de la post hypophyse. Il s´y associait une schizencéphalie fermée. La dysplasie septo-optique est une malformation congénitale rare. Notre objectif est de rappeler sa sémiologie en imagerie et de souligner l´importance de l´IRM pour établir le diagnostic. La dysplasie septo-optique est une entité clinique rare associant classiquement des anomalies encéphaliques de la ligne médiane, une hypoplasie des nerfs optiques et une insuffisance hypophysaire. L´association à des malformations corticales comme la schizencéphalie et la polymicrogyrie désigne le terme dysplasie septo-optique plus. Les progrès de l´imagerie permettent actuellement un diagnostic précoce, ce qui est primordial pour une prise en charge adéquate. L´échographie anténatale peut suspecter la dysplasie, et l´IRM encéphalique confirme le diagnostic.

The purpose of this study is to describe the imaging findings in a group of fetuses with suspected agenesis of the septum pellucidum (ASP) and to evaluate their clinical outcome. This is a retrospective multicenter study on a cohort of fetuses diagnosed with suspected ASP, between 2008 and 2017. The records of each patient, including ultrasound (US) and magnetic resonance studies, were reviewed and compared with the postnatal findings. Forty-seven patients were included in the study at a mean gestational age of 26.6 weeks. In 17 patients, the ASP was considered isolated. Fourteen patients delivered live-born, and all 14 are developing normally. Three were lost to follow-up. Twenty-four patients had associated malformations involving the central nervous system (CNS); 13 were delivered (normal development [5], abnormal [6] and no follow-up [2]). Nine patients opted for termination, and two pregnancies were lost to follow-up. Six patients had non-CNS associated findings, two were delivered with normal neurological development and four had a termination. Isolated ASP is usually associated with a favorable outcome; but in the presence of associated malformations, there is at least a 50% risk of abnormal development. Current imaging techniques can provide an accurate prognosis in cases when ASP appears isolated.

Dystroglycanopathies, which are caused by reduced glycosylation of alpha-dystroglycan, are a heterogeneous group of neurodegenerative disorders characterized by variable brain and skeletal muscle involvement. Muscle-eye-brain disease (or muscular dystrophy-dystroglycanopathy type 3 A) is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, and lissencephaly. We report clinical and genetic characteristics of a 6-year-old boy affected by muscular dystrophy-dystroglycanopathy. He has severe a delay in psychomotor and speech development, muscle hypotony, congenital myopia, partial atrophy of the optic nerve disc, increased level of creatine kinase, primary-muscle lesion, polymicrogyria, ventriculomegaly, hypoplasia of the corpus callosum, cysts of the cerebellum. Exome sequencing revealed compound heterozygous mutations in POMGNT1 gene (transcript NM_001243766.1): c.1539 + 1G > A and c.385C > T. The present case report shows diagnostic algorithm step by step and helps better understand the clinical and genetic features of congenital muscular dystrophy.

Septo-optic dysplasia is a congenital disorder consisting of optic nerve hypoplasia and absent septum pellucidum. While associated anomalies have been described, olfactory sulcus and bulb-tract hypoplasia have been scantily reported and was the focus of this study. The picture archival and communications system and radiology information system (PACS-RIS) was searched over 15 years for patients with suspected septo-optic dysplasia (n = 41) and cerebral magnetic resonance imaging (MRI). Included patients had coronal (≤3 mm), axial (≤4 mm), and sagittal (≤4 mm) imaging reviewed by two staff neuroradiologists by consensus. Both olfactory sulcus and bulb-tract hypoplasia were ascribed a grade of 0 (normal) to 3 (complete hypoplasia). Other associated congenital anomalies were recorded, if present. Incidence of anomalies were compared to age-matched and gender-matched control patients. Out of 41 septo-optic dysplasia patients 33 were included (mean age = 120.7 months), with 8 excluded due to isolated septum pellucidum absence (n = 5), isolated bilateral optic hypoplasia (n = 2), or inadequate imaging (n = 1). An olfactory sulcus was hypoplastic on one or both sides in 14/33 (42.4%). Olfactory bulb hypoplasia was noted in one or both tracts in 15/33 (45.4%). A significant correlation was found between degree of olfactory sulcal and bulb-tract hypoplasia (ρ = 0.528, p = 0.0009). Other anomalies were: anterior falx dysplasia (n = 16, 48.5%), incomplete hippocampal inversion (n = 14, 42.4%), polymicrogyria (n = 11, 33.3%), callosal complete or partial agenesis (n = 10, 30.3%), schizencephaly (n = 8, 24.2%), ectopic posterior pituitary (n = 6, 18.2%), and nodular heterotopia (n = 4, 12.1%). Of the age-matched control patients 10/33 (30.3%) had at least mild anterior falx hypoplasia, and 1 control patient was noted to have unilateral incomplete hippocampal inversion (IHI); none of the age-matched control patients had olfactory sulcus or bulb-tract hypoplasia. Olfactory sulcus and bulb-tract hypoplasia are fairly common in septo-optic dysplasia and can be discordant between sides. Of the other associated anomalies, anterior falx dysplasia seems to be the most common.