A 27-year-old male with nonobstructive hydronephrosis was referred from the urology department for polyuria evaluation and management. The patient was hospitalized for urinary tract infection and cystostomy was performed due to neurogenic bladder of unknown origin. The patient was of short stature and had visual impairment. From the interview, we discovered he had been suffering from polyuria and polydipsia for more than 20 years. Urine output was 13 L/day and urine osmolarity was 85 mOsm/kg. The results of a water deprivation test were consistent with central diabetes insipidus. Septo-optic dysplasia (SOD) was observed on brain magnetic resonance imaging (MRI). SOD is a very rare condition characterized by agenesis of the septum pellucidum or corpus callosum, which may cause optic nerve aplasia or hypoplasia, midbrain abnormalities and/or hypopituitarism. After desmopressin treatment, polyuria and hydronephrosis were improved. We report a case of a 27-year-old male diagnosed with SOD including diabetes insipidus, resulting in nonobstructive hydronephrosis.
Adult ; Brain ; Corpus Callosum ; Cystostomy ; Deamino Arginine Vasopressin ; Diabetes Insipidus ; Diabetes Insipidus, Neurogenic* ; Humans ; Hydronephrosis* ; Hypopituitarism ; Magnetic Resonance Imaging ; Male ; Mesencephalon ; Optic Nerve ; Osmolar Concentration ; Polydipsia ; Polyuria ; Septo-Optic Dysplasia* ; Septum Pellucidum ; Urinary Bladder, Neurogenic ; Urinary Tract Infections ; Urology ; Vision Disorders ; Water Deprivation

Abnormalities, Multiple ; diagnosis ; genetics ; pathology ; Brain ; diagnostic imaging ; pathology ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Optic Atrophies, Hereditary ; diagnostic imaging ; pathology ; Radiography ; Septo-Optic Dysplasia ; diagnosis ; genetics ; pathology ; Septum Pellucidum ; diagnostic imaging ; pathology

Septo-optic dysplasia is a rare congenital disorder characterized by the absence of the septum pallucidum, hypoplasia of the optic chiasma and nerves, and various types of hypothalamic-pituitary dysfunction. Schizencephaly is an abnormal cleft in the brain, lined with gray matter which may communicate with the ventricular system. Septo-optic dysplasia with schizencephaly is associated with endocrinologic disorders, visual impairment, mental retardation, and seizures. We report a case of septo-optic dysplasia with schizencephaly which was diagnosed in the early neonatal period.
Brain ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Intellectual Disability ; Malformations of Cortical Development ; Optic Chiasm ; Seizures ; Septo-Optic Dysplasia ; Vision Disorders

PURPOSE: To estimate the baseline demographic and ocular characteristics of patients with optic nerve hypoplasia (ONH), and to analyze the different features and frequency of coexistent CNS abnormalities and pituitary hormone deficiency. METHODS: The authors reviewed the medical records of the patients who were seen between January 1988 and July 2005. Eyes with disc-to-macula / disc diameter ratio of 3.0 or more were eligible. The study comprised 70 patients (45 male, 25 female) and the average age was 6.4 years. RESULTS: Ocular manifestations included strabismus and nystagmus in 60 patients (85.7%) and 23 patients (32.9%), respectively. Eighty-four patients (87.5%) had visual acuity of 0.3 or less. Neuroradiologic examination of 27 patients revealed two with septo-optic dysplasia, two with pituitary hypoplasia, one with an absence of corpus callosum, one with diffuse encephalomalacia, one with a cerebral infarction in the right cerebral hemisphere, and one with a cerebellar injury. Of 12 patients who had undergone a clinical laboratory test, two had isolated growth hormone deficiency, one had a combined deficiency of growth hormone and gonadotropin and one had a combined deficiency of growth hormone and thyrotropin. CONCLUSIONS: Ocular features frequently associated with ONH are strabismus, nystagmus and poor vision. ONH is often associated with a wide variety of central nervous system abnormalities and pituitary hormone defect, so a systematic approach to patients with ONH is always recommended.
Agenesis of Corpus Callosum ; Central Nervous System ; Cerebral Infarction ; Cerebrum ; Dwarfism, Pituitary ; Encephalomalacia ; Gonadotropins ; Growth Hormone ; Humans ; Male ; Medical Records ; Optic Nerve* ; Septo-Optic Dysplasia ; Strabismus ; Thyrotropin ; Visual Acuity

Septooptic dysplasia is a rare anterior midline anomaly considered to be a mild form of lobar holoprosencephaly. We describe a case with unilateral optic nerve hypoplasia and the absence of a septum pellucidum.
Holoprosencephaly ; Optic Nerve ; Septo-Optic Dysplasia* ; Septum Pellucidum

BACKGROUND: Recently, focal transmantle dysplasia has been proposed to be a specific malformation of cortical development resulting from abnormal stem cell proliferation. Its clinical and imaging characteristics are not well known yet. METHODS: Five patients (3 men and 2 women, mean age 29 years) with epilepsy diagnosed as focal transmantle dysplasia were included and reviewed with regard to the clinical and imaging features. RESULTS: On the MRI, all patients had signal abnormality extending from the posterior frontal cortex to the wall of the lateral ventricle. The lesion signal was homogeneous and isointense to gray matter, which didn't enhanced by contrast. The lesion was protruded into the ventricle in 3 cases. Agenesis of septum pellucidum was the most commonly associated anomaly in 3 cases. Neurological examination was normal except in one patient with septo-optic dysplasia showing pendular nystagmus. Simple partial seizures were in 2 patients and nocturnal seizures in 3. Seizure onset was different from the first decade to the fourth decade (mean 19 years). Interictal spikes were observed in 2 patients. Seizure outcome was variable. CONCLUSIONS: We found some characteristics of MR imaging including the protruded lesion into the ventricle and asso-ciation with agenesis of septum pellucidum, which have not been recognized previously.
Epilepsies, Partial ; Epilepsy ; Female ; Humans ; Lateral Ventricles ; Magnetic Resonance Imaging* ; Male ; Malformations of Cortical Development ; Neurologic Examination ; Nystagmus, Pathologic ; Seizures ; Septo-Optic Dysplasia ; Septum Pellucidum ; Stem Cells

De Morsier syndrome, or septo-optic dysplasia is a developmental anomaly characterized by unilateral or bilaterral optic nerve hypoplasia, agenesis of septum pellucidum, visual disturbance, and a variable spectrum of disturbed hypothalamic-pituitary function. We experienced a 7-month-old female with de Morsier syndrome whose presenting manifestation was congenital exotropia of right eye, and subsequent evaluation revealed optic nerve hypoplasia of right eye, absence of septum pellucidum, and hypothyroidism.
Exotropia* ; Female ; Humans ; Hypothyroidism ; Infant ; Optic Nerve ; Septo-Optic Dysplasia ; Septum Pellucidum

The septo-optic dysplasia, or de Morsier syndrome is a developmental anomaly characterized by involvement of the septum pellucidum, optic system and hypothalamic-pituitary axis. We had experienced a case of septo-optic dysplasia in 8 month-old female. A magnetic resonance imaging of the brain showed isolated absent septum pellucidum. And ophthalmoscopic examination showed right optic nerve hypoplasia, exotropia of right eye.
Axis, Cervical Vertebra ; Brain ; Exotropia ; Female ; Humans ; Infant ; Magnetic Resonance Imaging ; Optic Nerve ; Septo-Optic Dysplasia* ; Septum Pellucidum

Septo-optic dysplasia, as first described by de Morsier, is a rare developmental anomaly of absent or hypoplastic septum pellucidum, a primitive optic vesicle, and dysplasia of the optic nerve, chiasm, and optic tracts. It is a common cause of hypopituitarism in children and has variable hypothalamic-pituitary dysfunction. We experienced a case of septo-optic dysplasia in 5 month old female baby who presented with developmental delay and seizure. A magnetic resonance imaging of the brain showed absence of the septum pellucidum and the fundoscopic examination disclosed the absence of left optic disc and atrophy of right optic disc.
Atrophy ; Brain ; Child ; Female ; Humans ; Hypopituitarism ; Infant ; Magnetic Resonance Imaging ; Optic Nerve ; Seizures ; Septo-Optic Dysplasia* ; Septum Pellucidum ; Visual Pathways

Septo-optic dysplasia, as first described by de Morsier, is a rare developmental anomaly involving optic nerve hypolasia, midline anomalies of the brain and variable hypothalamic-pituitary dysfunction. We experienced a case of septo-optic dysplasia in 56-day old male infant who presented with prolonged jaundice. A magnetic resonance imaging of the brain showed absence of the septum pellucidum and the ophthalmoscopic examination disclosed left optic nerve hypoplasia. Thus, we reported it with a brief review of literatures.
Brain ; Humans ; Infant ; Jaundice ; Magnetic Resonance Imaging ; Male ; Optic Nerve ; Septo-Optic Dysplasia* ; Septum Pellucidum