LETTER TO THE EDITOR Septo-optic dysplasia plus diagnosed in adulthood Adrian Infante-Valenzuela 1 & Carlos R. Camara-Lemarroy 1 & Alan L. Reyes-Mondragon 2 & Claudio E. Muñiz-Landeros 1 & Hector J. Villarreal-Velazquez 1 Received: 26 December 2016 /Accepted: 28 April 2017 # Springer-Verlag Italia 2017 Dear editor: Septo-optic dysplasia (SOD), previously termed de Morsier syndrome, is a rare congenital anomaly. It can be diagnosed (clinically) when two or more features of the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects are present. Seizures, developmental delay and cerebral palsy are the most frequent neurological associations [1]. Its rarity and heterogeneity often make ear- ly diagnosis difficult and it is sometimes made well into adulthood. The associated cortical malformations with SOD (SOD-plus) include a spectrum of disorders of cortical development such as schizencephaly, cortical dysplasia and polymicrogyria. A 19-year-old woman presented to the emergency depart- ment after presenting three generalized tonic-clonic seizures the previous night. She had been diagnosed with epilepsy (presenting mainly absence seizures) at age 13 and treated with valproic acid. She had no relevant perinatal or maternal history. Other relevant history included a mild delay in psy- chomotor development (started walking at 2 years), but she successfully completed secondary education. At age 3, she was intervened surgically to correct bilateral congenital stra- bismus. At age 9, she was diagnosed with panhypopituitarism after complaining of weakness and short stature and was started on hormone replacement therapy. Her seizures were under control until a year before her admission, when they started changing in phenotype, now including simple partial seizures of the left limbs. The episodes that prompted the visit to the emergency department were the first generalized tonic- clonic seizures she had ever presented. Upon examination, the patient was found alert and respon- sive. Her speech was slow but coherent. Ophthalmoscopic examination revealed bilaterally atrophied optic nerves. She also had lateral-gaze-induced bilateral nistagmus. There were no pyramidal, sensitive or cerebellar signs. There was no fever or meningismus. Standard biochemical parameters including glucose, electrolytes and liver function tests were normal. All pituitary hormone levels were within normal range. A brain MRI revealed hypoplasia of the optic nerves and optic chiasm, agenesis of the septum pellucidum and a frontal region of cortical dysplasia and agyria (Fig. 1). Electroencephalogram showed right-sided frontal spikes and slow waves but no ictal activity. The patient was diagnosed with SOD-plus. Levetiracetam was added to her antiepileptic treatment and seizures were controlled. SOD has a reported incidence in 1/10,000 live births and can appear in either sex [1]. It has been associated with a young maternal age [2]. It can present at birth in association with multiple congenital abnormalities such as microcephallus, cleft palate and undescended testes [1, 2]. Ophthalmologic findings such as strabismus, nystagmus and blurred vision are common. Pituitary hormone abnormalities might manifest as hypoglycaemia or adrenal crises. The most common midline brain defects described in the literature are agenesis of the septum pellucidum and/or corpus callosum. Neuroradiological anomalies are present in up to 90% in those with associated neurological deficits [ 3 ]. Cortical malformations in SOD-plus are usually accompanied by psy- chomotor developmental delay, motor deficits or seizures [4]. * Carlos R. Camara-Lemarroy crcamara83@hotmail.com 1 Servicio de Neurologia, Hospital Universitario BDr. José E. González^, Universidad Autónoma de Nuevo León, Madero y Gonzalitos S/N, 64460 Monterrey, Nuevo León, Mexico 2 Departamento de Medicina Interna, Hospital Universitario BDr. Jose E. Gonzalez^, Universidad Autonoma de Nuevo Leon, Madero y Gonzalitos S/N, 64460 Monterrey, Nuevo León, Mexico Neurol Sci DOI 10.1007/s10072-017-2985-7