web contact: pietsch@indiana.edu
TITLE: Normal growth in a patient with septo-optic dysplasia despite both growth hormone and IGF-I deficiency.
AUTHOR(S): Bereket-A; Lang-CH; Geffner-ME; Wilson-TA
ADDRESS OF AUTHOR: Department of Pediatrics, Hacettepe University, Ankara, Turkey.
SOURCE (BIBLIOGRAPHIC CITATION): J-Pediatr-Endocrinol-Metab. 1998 Jan-Feb; 11(1): 69-75
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: A 17 year-old female with septo-optic dysplasia (SOD) and hypopituitarism who has grown normally despite GH deficiency is presented. Her serum was examined to test current hypotheses to explain the phenomenon of growth without GH. The patient's serum possessed potent in vitro growth-promoting activity (GPA) in an erythroid progenitor-cell clonal proliferation assay consistent with the patient's normal growth performance. In contrast to previously reported cases of growth without GH, total IGF-I concentrations were very low in this patient, precluding IGF-I being responsible for the observed GPA and normal growth pattern. Furthermore, circulating free IGF-I was also low which is reported for the first time in such a case. A detailed picture of IGF-binding proteins is also presented. To test the hypothesis that hyperinsulinemia might be responsible for the observed GPA, in vitro GPA experiments were performed before and after removal of insulin by immunodepletion. Neither partial nor complete removal of insulin abolished the in vitro cell proliferation response. These data demonstrate that neither IGF-I nor insulin is the factor responsible for GPA in at least this patient with SOD and growth without GH.
MEDLINE ACCESSION NUMBER: 1998306600
Record 2 of 30 in MEDLINE EXPRESS (R) 1996-1998
TITLE: [Septo-optic dysplasia (de Morsier syndrome)]
AUTHOR(S): Stangel-M; Vogeley-KT; Jandeck-C; Boegner-F; Marx-P; Koch-HC
ADDRESS OF AUTHOR: Abteilung fur Neurologie, Universitatsklinikum Benjamin Franklin, Freie Universitat Berlin.
SOURCE (BIBLIOGRAPHIC CITATION): Nervenarzt. 1998 Apr; 69(4): 352-6
LANGUAGE OF ARTICLE: GERMAN; NON-ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: Septo-optic dysplasia (or de Morsier syndrome) is a congenital disorder characterised by anomalies in cerebral midline structures, optic nerve hypoplasia, and hormonal deficiencies. Diagnosis should be made early, due to the possibility of treating the hormonal disturbances. We describe here a case with decreased visual acuity, one-sided hemianopia, nystagmus und agenesis of the septum pellucidum and discuss the heterogeneous appearance of this syndrome. There are two theories regarding its pathogenesis. The first postulates simultaneous damage to both cerebral structures and optic nerve development around the 6th week of gestation, while the other favours secondary degeneration of optic nerve fibres due to a cerebral lesion.
MEDLINE ACCESSION NUMBER: 1998269533
Record 3 of 30 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse.
AUTHOR(S): Dattani-MT; Martinez-Barbera-JP; Thomas-PQ; Brickman-JM; Gupta-R; Martensson-IL; Toresson-H; Fox-M; Wales-JK; Hindmarsh-PC; Krauss-S; Beddington-RS; Robinson-IC
ADDRESS OF AUTHOR: London Centre for Paediatric Endocrinology and Metabolism, Institute of Child Health, UK.
SOURCE (BIBLIOGRAPHIC CITATION): Nat-Genet. 1998 Jun; 19(2): 125-33
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: During early mouse development the homeobox gene Hesx1 is expressed in prospective forebrain tissue, but later becomes restricted to Rathke's pouch, the primordium of the anterior pituitary gland. Mice lacking Hesx1 exhibit variable anterior CNS defects and pituitary dysplasia. Mutants have a reduced prosencephalon, anopthalmia or micropthalmia, defective olfactory development and bifurcations in Rathke's pouch. Neonates exhibit abnormalities in the corpus callosum, the anterior and hippocampal commissures, and the septum pellucidum. A comparable and equally variable phenotype in humans is septo-optic dysplasia (SOD). We have cloned human HESX1 and screened for mutations in affected individuals. Two siblings with SOD were homozygous for an Arg53Cys missense mutation within the HESX1 homeodomain which destroyed its ability to bind target DNA. These data suggest an important role for Hesx1/HESX1 in forebrain, midline and pituitary development in mouse and human.
MEDLINE ACCESSION NUMBER: 1998282089
Record 4 of 30 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Hypothesis: septo-optic dysplasia is a vascular disruption sequence.
AUTHOR(S): Brodsky-MC
SOURCE (BIBLIOGRAPHIC CITATION): Surv-Ophthalmol. 1998 Mar-Apr; 42(5): 489-90
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: NETHERLANDS
MEDLINE ACCESSION NUMBER: 1998208357
Record 5 of 30 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.
AUTHOR(S): Carey-ML; Friedman-TB; Asher-JH Jr; Innis-JW
ADDRESS OF AUTHOR: Department of Zoology, Michigan State University, East Lansing 48824, USA.
SOURCE (BIBLIOGRAPHIC CITATION): J-Med-Genet. 1998 Mar; 35(3): 248-50
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: A four generation family (UoM1) was ascertained with Waardenburg syndrome type 1 (WS1). The proband exhibited both WS1 and septo-optic dysplasia. A G to C transversion was identified in PAX3 exon 7 in four subjects affected with WS1 in this family including the proband. This glutamine to histidine missense mutation at position 391 may also affect splicing. There are over 50 mutations characterised in PAX3 in WS1 patients; however, this is the first example of a WS1 mutation in exon 7 of PAX3.
MEDLINE ACCESSION NUMBER: 1998200183
Record 6 of 30 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Association of prenatal vascular disruptions with decreased maternal age.
AUTHOR(S): Lubinsky-MS
ADDRESS OF AUTHOR: Department of Pediatrics, Medical College of Wisconsin, Milwaukee, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1997 Mar 31; 69(3): 237-9
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Disruptions of fetal structures can create a variety of congenital anomalies. Some apparent prenatal vascular disruptions associate strongly with decreased maternal age, and are rare with older mothers. This is well-documented for gastroschisis, but similar findings with hydranencephaly suggest a general phenomenon that may also involve porencephaly, septo-optic dysplasia, early body stalk disruptions, certain hemifacial anomalies, and other findings. Prenatal vascular disruption may be a common cause of congenital anomalies, but its nature is unknown, and obvious environmental confounders associated with decreased maternal age may have only relatively small contributions. A protective effect for pregnancies of older mothers also remains a possibility.
MEDLINE ACCESSION NUMBER: 1997251067
Record 7 of 30 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Hypothesis: septo-optic dysplasia is a vascular disruption sequence.
AUTHOR(S): Lubinsky-MS
ADDRESS OF AUTHOR: Department of Pediatrics, Medical College of Wisconsin, Milwaukee, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1997 Mar 31; 69(3): 235-6
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Septo-optic dysplasia, a variable combination of absence of the septum pellucidum, optic nerve hypoplasia, and pituitary abnormalities, makes little embryologic sense: components arise from different tissues and processes at different times, it is seen often with porencephaly, which is asymmetric, and rarely with other midline findings, genetic causes are exceptional, and occasional absence of the pituitary stalk is developmentally anomalous. Vascular vulnerabilities of components, anatomical overlap with findings of hydranencephaly and porencephaly, and a decreased maternal age effect similar to that of other abnormalities with presumed vascular origins, suggest a vascular disruption sequence instead, possibly involving the proximal trunk of the anterior cerebral artery.
MEDLINE ACCESSION NUMBER: 1997251066
Record 8 of 30 in MEDLINE EXPRESS (R) 1996-1998
TITLE: The clinical, neuroradiographic, and endocrinologic profile of patients with bilateral optic nerve hypoplasia [see comments]
AUTHOR(S): Siatkowski-RM; Sanchez-JC; Andrade-R; Alvarez-A
ADDRESS OF AUTHOR: Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Ophthalmology. 1997 Mar; 104(3): 493-6
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: PURPOSE: The purpose of the study was to expand on ophthalmologic and endocrinologic data and report the neuroimaging findings of 35 patients with bilateral optic nerve hypoplasia (BONH). METHODS: A retrospective chart review of 35 children with BONH was conducted. Data on visual acuity, refractive error, and presence of nystagmus and strabismus were collected. Twenty-six children underwent full-endocrinologic evaluation and magnetic resonance imaging or computed tomography scanning. RESULTS: The male:female ratio was 2:1. Ten percent of eyes had visual acuity of 20/60 or better, whereas 34% had no light perception. Eighty-six percent of eyes had acuity less than 20/200, and 80% of patients were legally blind. Most patients (86%) had nystagmus or strabismus or both. Forty-six percent had absence of the septum pellucidum and corpus callosum on neuroimaging. Twenty-seven percent of patients had endocrinologic abnormalities, with growth hormone deficiency being the most common. Panhypopituitarism occurred in 11.5% of children. CONCLUSIONS: Although the visual prognosis of children with BONH generally is poor, 10% of such patients have excellent acuity. In contrast to previous reports, endocrine abnormalities were seen in only one quarter of patients, and the full-blown deMorsier syndrome (septo-optic dysplasia with panhypopituitarism) was seen in only 11.5% of patients with BONH.
MEDLINE ACCESSION NUMBER: 1997226434
Record 9 of 30 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Normal MR appearances of the posterior pituitary in central diabetes insipidus associated with septo-optic dysplasia.
AUTHOR(S): Abernethy-LJ; Qunibi-MA; Smith-CS
ADDRESS OF AUTHOR: Department of Radiology, Royal Liverpool Children's Hospital, Alder Hey, Liverpool, UK.
SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Radiol. 1997 Jan; 27(1): 45-7
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: Magnetic resonance (MR) imaging of the pituitary in children with central diabetes insipidus usually shows absence of the normal high signal within the posterior gland. The high signal of the normal posterior pituitary is thought to be due to the presence of intra- cellular storage granules of vasopressin. MR imaging has been advocated as a useful investigation to aid in the distinction between central diabetes insipidus and other causes of thirst and polydipsia. We report the case of an infant with central diabetes insipidus in association with septo-optic dysplasia in whom MR imaging showed normal appearances of the posterior pituitary. The mechanism of central diabetes insipidus in this case may be related to a failure of hypothalamic function affecting osmoreception, rather than to a deficiency of vasopressin. Normal MR appearances of the pituitary do not exclude central diabetes insipidus in infants with midline cerebral malformations.
MEDLINE ACCESSION NUMBER: 1997152429
Record 10 of 30 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Sudden death in septo-optic dysplasia. Report of 5 cases.
AUTHOR(S): Brodsky-MC; Conte-FA; Taylor-D; Hoyt-CS; Mrak-RE
ADDRESS OF AUTHOR: Department of Ophthalmology, University of Arkansas for Medical Sciences, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Arch-Ophthalmol. 1997 Jan; 115(1): 66-70
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: OBJECTIVES: To report our experience with sudden death in children with septo-optic dysplasia and to identify specific risk factors and suggest preventive measures to minimize mortality. METHODS: Clinical data from 5 children with septo-optic dysplasia who died suddenly and unexpectedly were evaluated retrospectively. RESULTS: All children had corticotropin deficiency, all had thermoregulatory disturbances, and 4 children had diabetes insipidus. In at least 4 children, clinical deterioration was caused by fever and dehydration from a presumed viral illness, which appeared to precipitate adrenal crisis. CONCLUSIONS: Children with septo-optic dysplasia and hypocortisolism are at risk for sudden death during febrile illness. Thermoregulatory disturbances and dehydration from diabetes insipidus may potentiate clinical deterioration. Prevention of sudden death in septo-optic dysplasia requires early recognition and treatment of these major risk factors.
MEDLINE ACCESSION NUMBER: 1997159086
Record 11 of 30 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Septo-optic dysplasia associated with cerebral cortical dysplasia (cortico-septo-optic dysplasia).
AUTHOR(S): Nuri-Sener-R
ADDRESS OF AUTHOR: Department of Radiology, Ege University Hospital, Bornova, Izmir, Turkey.
SOURCE (BIBLIOGRAPHIC CITATION): J-Neuroradiol. 1996 Dec; 23(4): 245-7
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: FRANCE
ABSTRACT: It is generally accepted that there are two subsets of septo-optic dysplasia (deMorsier's syndrome), one with schizencephaly and the other without schizencephaly. A third form of the anomaly which is associated with callosal absence has also been described. Except for schizencephaly, the association of septo-optic dysplasia with another major type of disorder of neuronal migration and organization such as cortical dysplasia, has not yet been reported. We report the MR imaging examination of a 3-year-old patient with bilateral rolandic cortical dysplasia, and with apparent thinning of the optic nerves, and absent septum pellucidum (septo-optic dysplasia) as a new combination. This can be labelled as cortico-septo-optic dysplasia.
MEDLINE ACCESSION NUMBER: 1997261082
Record 12 of 30 in MEDLINE EXPRESS (R) 1996-1998
TITLE: [Septo-optic dysplasia: report of 6 patients studied with MR and discussion on its pathogenesis]
AUTHOR(S): Ramos-Fernandez-JM; Martinez-San-Millan-J; Barrio-Castellano-R; Yturriaga-Matarranz-R; Lorenzo-Sanz-G; Aparicio-Meix-JM
ADDRESS OF AUTHOR: Seccion de Neuropediatria, Hospital Ramon y Cajal, Madrid.
SOURCE (BIBLIOGRAPHIC CITATION): An-Esp-Pediatr. 1996 Dec; 45(6): 614-8
LANGUAGE OF ARTICLE: SPANISH; NON-ENGLISH
COUNTRY OF PUBLICATION: SPAIN
ABSTRACT: OBJECTIVE: Septo-optic dysplasia, which consists of the association of the hypoplasia of the optic nerves and the agenesis of the septum pellucidum, is frequently associated with deficiency of hypothalamic releasing factors. In Magnetic Resonance (MR) of these patients, anomalies in the form and size of the pituitary stalk, adenohypophysis and neurohypophysis are found. Some cases show schizencephaly and it has been proposed as an added component of the syndrome by some authors. This fact has been refuted by others. PATIENTS AND METHODS: We present the clinical and neuroanatomic revision of six children with septo-optic dysplasia studied by MR imaging over the last five years in our Department of Neuropediatrics. The aim was, that through the neuroembryological discussion of the morphopathological aspects of the patients, to determine the malformation and the time in which the injury, which was the underlying cause, occurred. RESULTS: From the six cases, in two only disruptive signs were evident with the optic nerves being affected asymmetrically, disruption of the corpus callosum, falx cerebri indemnity and effects in the cortex conformation. This was opposed to the dysgenic features in the other four cases which had no disruptive features. CONCLUSIONS: Our findings suggest that this entity could be the result of at least two different pathogenic processes, that is, a minor form of holoprosencephaly (dysgenesis) or a disruption which, therefore, occurs later in gestation.
MEDLINE ACCESSION NUMBER: 1997164437
Record 13 of 30 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Septo-optic dysplasia with cerebellar hypoplasia in Cornelia de Lange syndrome.
AUTHOR(S): Hayashi-M; Sakamoto-K; Kurata-K; Nagata-J; Satoh-J; Morimatsu-Y
ADDRESS OF AUTHOR: Department of Clinical Neuropathology, Tokyo Metropolitan Institute for Neuroscience, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Acta-Neuropathol-Berl. 1996 Dec; 92(6): 625-30
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: Little is known about the neuropathology of Cornelia de Lange syndrome. We report a unique type of cerebral malformation combined with Cornelia de Lange syndrome in a 5-year-old female child. At autopsy, the optic systems, hypothalamic nuclei, corpus callosum and cerebellar vermis were hypoplastic, and the septum pellucidum, fornix and anterior commissure were rudimentary. The brain had malformative features of septo-optic dysplasia combined with commissural dysplasia and cerebellar vermian hypoplasia. This case suggests an interrelationship between Cornelia de Lange syndrome and midline development of the brain.
MEDLINE ACCESSION NUMBER: 1997119499
Record 14 of 30 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Diagnostic strategies in pediatric imaging.
AUTHOR(S): Adamsbaum-C; Chaussain-JL
ADDRESS OF AUTHOR: Service de Radiologie, Hopital St. Vincent de Paul, Paris, France.
SOURCE (BIBLIOGRAPHIC CITATION): Horm-Res. 1996; 46(4-5): 165-9
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: SWITZERLAND
ABSTRACT: Magnetic resonance imaging is the modality of choice to visualize the pituitary gland. In pituitary dwarfism with growth hormone deficiency, neuroimaging can be normal or can disclose abnormalities: (1) Tumors, mainly craniopharyngiomas. These benign tumors vary greatly in size and composition (calcifications, a cystic component in approximatively 80% of cases, typically with high signal intensity on T1-weighted images). (2) Classical midline malformations such as septo-optic dysplasia or corpus callosum agenesis. (3) Recently described minor malformations: pituitary hypoplasia, pituitary stalk aplasia, and translocation of the pituitary bright spot to the median eminence called an "ectopic' posterior lobe. All these malformations can be isolated or associated. (4) Pituitary adenomas (prolactinomas), which are not frequent in children.
MEDLINE ACCESSION NUMBER: 1997107890
Record 15 of 30 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Sotos syndrome with septo-optic dysplasia.
AUTHOR(S): Buyukgebiz-A; Ercal-D; Bober-E
ADDRESS OF AUTHOR: Department of Pediatrics Endocrinology, University of Dokuz Eylul, Faculty of Medicine, Izmir, Turkey.
SOURCE (BIBLIOGRAPHIC CITATION): J-Pediatr-Endocrinol-Metab. 1996 Jul-Aug; 9(4): 497-9
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: A 12 2/12 year-old boy was admitted to our hospital with the complaint of rapid growth. His birth and postnatal growth history, developmental retardation, physical examination and skeletal radiograms suggested Sotos syndrome. CT and MRI findings revealed septo-optic dysplasia (SOD), which is usually characterized by poor growth, together with cerebral gigantism in our case. These two entities are both rare and as far as we know this is the first patient in the literature with Sotos syndrome and SOD.
MEDLINE ACCESSION NUMBER: 1997067407
Record 16 of 30 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Septo-optic dysplasia associated with bilateral complex microphthalmos.
AUTHOR(S): Gunduz-K; Gunalp-I; Saatci-I
ADDRESS OF AUTHOR: Kecioren Numune State Hospital, Ophthalmology Service, Faculty of Medicine, University of Ankara, Turkey.
SOURCE (BIBLIOGRAPHIC CITATION): Ophthalmic-Genet. 1996 Sep; 17(3): 109-13
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: NETHERLANDS
ABSTRACT: An 8-month-old girl was examined because of corneal clouding and microphthalmos. The fundi of both eyes could not be visualized because of corneal clouding. Orbital and cranial computerized tomographic scanning and magnetic resonance imaging demonstrated bilateral microphthalmos and presumed retinal dysplasia, hypoplasia of the optic nerves and chiasm, agenesis of the septum pellucidum, thinning of corpus callosum, and a normal pituitary infundibulum. Cerebral cortex and white matter were unremarkable. Other ocular malformations were anterior segment dysgenesis in the right eye and congenital cataract or lens abnormality in the left eye. Endocrine studies revealed normal serum hormone levels. There were no colobomatous lesions and systemic anomalies suggestive of a coloboma syndrome. This case represents the rare association of septo-optic dysplasia with complex microphthalmos.
MEDLINE ACCESSION NUMBER: 1997061822
Record 17 of 30 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Septo-optic dysplasia.
AUTHOR(S): Singh-H; Singh-D; Sobti-MK; Singh-G
ADDRESS OF AUTHOR: Department of Pediatrics, Dayanand Medical College and Hospital, Ludhiana, Punjab.
SOURCE (BIBLIOGRAPHIC CITATION): Indian-Pediatr. 1996 Aug; 33(8): 698-700
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: INDIA
MEDLINE ACCESSION NUMBER: 1997134178
Record 18 of 30 in MEDLINE EXPRESS (R) 1996-1998
TITLE: [Septo-optic dysplasia (de Morsier syndrome)]
AUTHOR(S): Liptai-Z; Kalmanchey-R; Rudas-G; Farkas-A
ADDRESS OF AUTHOR: II.Gyermekgyogyaszati Klinika, Semmelweis Orvostudomanyi Egyetem, Budapest.
SOURCE (BIBLIOGRAPHIC CITATION): Orv-Hetil. 1996 Aug 4; 137(31): 1705-9
LANGUAGE OF ARTICLE: HUNGARIAN; NON-ENGLISH
COUNTRY OF PUBLICATION: HUNGARY
ABSTRACT: Authors report a rare central nervous system malformation on giving account of three of their cases. The possibility of septo-optic dysplasia should be raised in children with unilateral or bilateral hypoplasia of the optic nerve. The use of neuroimaging technics is necessary for establishing the diagnosis. Knowing the disease is important because of the hypopituitarism which can accompany it, and which can necessitate an early hormone replacement therapy.
MEDLINE ACCESSION NUMBER: 1997102332
Record 19 of 30 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Septo-optic dysplasia (de Morsier's syndrome) associated with total callosal absence. A new type of the anomaly.
AUTHOR(S): Nuri-Sener-R
ADDRESS OF AUTHOR: Department of Radiology, Ege University Hospital, Bornova, Izmir, Turkey.
SOURCE (BIBLIOGRAPHIC CITATION): J-Neuroradiol. 1996 Sep; 23(2): 79-81
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: FRANCE
ABSTRACT: It is currently believed that there are two subsets of septo-optic dysplasia (de Morsier's syndrome), one with schizencephaly and the other without schizencephaly. Also, some authors consider septo-optic dysplasia as a mild form of holo-prosencephaly. This article describes a third form of the anomaly which is associated with total callosal absence. Two patients similar to this one have previously been reported. None of these three patients had interhemispheric fusion in any form, excluding holoprosencephaly. They had normal facies. All of them presented with seizures, and no hormonal abnormality was found. This new clinicoradiological type of the anomaly is suggested to be labelled as calloso-septo-optic or calloso-optic dysplasia.
MEDLINE ACCESSION NUMBER: 1997103938
Record 20 of 30 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Endocrine disorders in septo-optic dysplasia (De Morsier syndrome)--evaluation and follow up of 18 patients.
AUTHOR(S): Willnow-S; Kiess-W; Butenandt-O; Dorr-HG; Enders-A; Strasser-Vogel-B; Egger-J; Schwarz-HP
ADDRESS OF AUTHOR: Children's Hospital, University of Munich, Germany.
SOURCE (BIBLIOGRAPHIC CITATION): Eur-J-Pediatr. 1996 Mar; 155(3): 179-84
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: Septo-optic dysplasia (SOD) is characterized by hypoplasia of the optic nerve, various types of forebrain defects and hormonal deficiencies. We have studied the clinical and endocrinological characteristics of 18 such patients retrospectively to: (1) better define the endocrine abnormalities in children with SOD; and (2) to find approaches for the interdisciplinary long-term care of children with SOD. The children were seen at the Children's Hospital of the University of Munich from 1976 to 1992 (8 boys, 10 girls; age at initial presentation: 1 day-13 years of age, mean 1.9 years). Unilateral hypoplasia of the optic nerve was found in 7 cases, bilateral hypoplasia in 11. Sonographic, CCT or MRI yielded the following results: 4 of the patients had a cavum septum pellucidum, 3 patients had hypoplasia of the cerebellum, 1 aplasia of the corpus callosum and 1 aplasia of the fornix. An empty sella with or without an ectopic pituitary was seen in 4 cases. Height standard deviation score (SDS) at time of diagnosis was -4.0 to +0.4, mean -2.92. Endocrine deficiencies were present in all 11 patients who had undergone endocrinological investigations. Seven patients suffered from isolated growth hormone (GH) deficiency or multiple hypopituitarism. One had diabetes insipidus centralis, 2 had hypogonadotropic hypogonadism, 1 had hypothyroidism and 2 adrenal insufficiency. Hypothalamic testing was performed only in a subset of patients: in 5 of 11 children tested a thyrotropin releasing hormone (TRH test), in two out of nine a gonadotropin releasing hormone (GnRH) test, and in three out of six GH releasing hormone (GHRH) test yielded abnormal results. High prolactin levels were measured in two out of five patients. CONCLUSION: SOD is characterized by optic nerve hypoplasia and a variety of endocrine deficiencies. In addition, forebrain malformations are present in most SOD patients. Hormonal disorders are present in some SOD patients which may be of hypothalamic origin and need to be investigated systematically.
MEDLINE ACCESSION NUMBER: 1997083150
Record 21 of 30 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Optic nerve hypoplasia with hypopituitarism and an arachnoid cyst.
AUTHOR(S): Ichiyama-T; Hayashi-T; Nishikawa-M; Furukawa-S
ADDRESS OF AUTHOR: Department of Pediatrics, Yamaguchi University School of Medicine, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Brain-Dev. 1996 May-Jun; 18(3): 234-5
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: NETHERLANDS
ABSTRACT: We describe a 5-month-old boy with bilateral optic nerve hypoplasia associated with visual impairment, growth hormone deficiency and an arachnoid cyst in the right temporal lobe on MRI. Optic nerve hypoplasia is sometimes associated with agenesis of the septum pellucidum, commonly known as septo-optic dysplasia, and/or hypopituitarism. There have been a few reports about its association with other abnormalities of the central nervous system, but none about that with an arachnoid cyst.
MEDLINE ACCESSION NUMBER: 1996433521
Record 22 of 30 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Evidence for possible Mendelian inheritance of septo-optic dysplasia.
AUTHOR(S): Wales-JK; Quarrell-OW
ADDRESS OF AUTHOR: University Department of Paediatrics, Sheffield Children's Hospital, UK.
SOURCE (BIBLIOGRAPHIC CITATION): Acta-Paediatr. 1996 Mar; 85(3): 391-2
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: NORWAY
ABSTRACT: We describe two siblings from a highly consanguineous pedigree with absent mid-line brain structures and hypopituitarism. This raises the possibility of a heritable basis for at least some forms of the septo-optic dysplasia sequence.
MEDLINE ACCESSION NUMBER: 1996282774
Record 23 of 30 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Septo-optic dysplasia.
AUTHOR(S): Declerck-A; Casteels-I; Demaerel-P; Dralands-L
ADDRESS OF AUTHOR: Dienst Oogziekten, UZ SintRafael, Leuven.
SOURCE (BIBLIOGRAPHIC CITATION): Bull-Soc-Belge-Ophtalmol. 1994; 254: 157-61
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: BELGIUM
ABSTRACT: The authors present three patients with the diagnosis of septo-optic dysplasia or 'de Morsier' syndrome. They stress the important role of the ophthalmologist in the diagnosis. With the advent of MRI, subtle central nervous system abnormalities have been recognized. A close ophthalmological and endocrinological follow-up is necessary.
MEDLINE ACCESSION NUMBER: 1996059828
Record 24 of 30 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Holoprosencephaly and septo-optic dysplasia.
AUTHOR(S): Fitz-CR
ADDRESS OF AUTHOR: Department of Radiology, Children's Hospital of Pittsburgh, Pennsylvania.
SOURCE (BIBLIOGRAPHIC CITATION): Neuroimaging-Clin-N-Am. 1994 May; 4(2): 263-81
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Holoprosencephaly is a rare brain anomaly, which may be seen in liveborn neonates, although it is more common in stillbirths and abortions. It may occur alone or as part of a large number of genetic syndromes and associations. It is thought to arise early in embryogenesis (6 weeks), as the prosencephalon is separating into the two hemispheres. It is a complex anomaly with markedly varying degrees of severity. The most severe alobar form affects the entire prosencephalon. The brain shows no evidence of division into two hemispheres. The central thalami and basal ganglia remain undivided and confluent, and there is a large, dorsally located cyst connected to the large single ventricle. These infants usually die shortly after birth. The semilobar form has variable amounts of hemispheric formation with normalization occurring from dorsal to ventral. Some posterior falx, occipital, and temporal horn formation and evidence of a third ventricle are present. It is compatible with life. The lobar form has the most nearly normal appearance. It often exhibits a well-formed ventricular system, absence of the septum pellucidum, a shallow falx, abnormal connection of gray and white matter across the midline, and partially formed frontal lobes. Facial anomalies, especially hypotelorism and midline clefts, generally parallel the brain malformation in severity. Visual and olfactory symptoms plus pituitary abnormalities are often present. Septo-optic dysplasia is a related entity. It has a constellation of symptoms of hypotelorism, severe visual problems, and short stature or other pituitary symptoms. Primary imaging findings include optic nerve hypoplasia and absent septum pellucidum. Septo-optic dysplasia somewhat resembles lobar holoprosencephaly. Septo-optic dysplasia is more common than holoprosencephaly. Isolated absence of the septum pellucidum is also thought to be a mild brain anomaly.
MEDLINE ACCESSION NUMBER: 1994363062
Record 25 of 30 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Diabetes insipidus with impaired osmotic regulation in septo-optic dysplasia and agenesis of the corpus callosum.
AUTHOR(S): Masera-N; Grant-DB; Stanhope-R; Preece-MA
ADDRESS OF AUTHOR: Institute of Child Health, London.
SOURCE (BIBLIOGRAPHIC CITATION): Arch-Dis-Child. 1994 Jan; 70(1): 51-3
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: The clinical and endocrinological findings in 24 children with septo-optic dysplasia and/or agenesis of the corpus callosum are described with particular reference to posterior pituitary function. Nine had diabetes insipidus. The prevalence of diabetes insipidus was similar in children with complete and incomplete forms of septo-optic dysplasia. Maintenance of normal osmotic balance was very difficult in six of these children, even after the introduction of treatment with vasopressin, either as desmopressin, or lysine vasopressin spray in one of the early cases.
MEDLINE ACCESSION NUMBER: 1994153133
Record 26 of 30 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Midline cerebral dysgenesis, dysfunction of the hypothalamic-pituitary axis, and fetal alcohol effects.
AUTHOR(S): Coulter-CL; Leech-RW; Schaefer-GB; Scheithauer-BW; Brumback-RA
ADDRESS OF AUTHOR: Department of Neurology, Creighton University, Omaha, NE 68131.
SOURCE (BIBLIOGRAPHIC CITATION): Arch-Neurol. 1993 Jul; 50(7): 771-5
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: OBJECTIVE--Neuropathologic evaluation was performed on an infant with fetal alcohol effects. DESIGN--Coronal brain sections and representative tissue blocks stained with hematoxylin-eosin, silver stain, and immunocytochemical stains for hypothalamic and pituitary hormones were evaluated for neuropathologic abnormalities. PATIENT--A 2.5-month-old American Indian girl who had been exposed to first-trimester maternal binge alcohol abuse died after persistent problems of growth failure, sodium imbalance, aberrant temperature regulation, respiratory distress, and seizures. RESULTS--Autopsy revealed severe microcephaly, hypertelorism, midfacial hypoplasia, a high-arched palate, shortened palpebral fissures, and a small brain. The frontal lobes were fused anteriorly; olfactory bulbs and tracts were absent; and optic nerves were hypoplastic. An enlarged and bulbous hypothalamus obscured the pituitary gland. The thalamus and caudate nuclei were fused across the midline. Posteriorly, the single ventricle split to form rudimentary lateral horns. The anterior corpus callosum, septum pellucidum, fimbria, and fornices could not be identified. The anterior commissure and supraoptic nuclei were microscopically present. Many Purkinje cells were horizontally positioned, with abnormal dendritic structure. The posterior pituitary lobe was absent, and the infundibulum was flanked by a hypoplastic adenohypophysis and a large subarachnoid heterotopia. Immunocytochemical studies identified only vasopressin and neurophysin in the hypothalamus and only growth hormone and prolactin in the pituitary gland. CONCLUSION--To our knowledge, an association between fetal alcohol effects and a complex cerebral anomaly with features of incomplete holoprosencephaly and septo-optic dysplasia has not previously been reported and suggests a possible common pathogenesis needing further study.
MEDLINE ACCESSION NUMBER: 1993312237
Record 27 of 30 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Septo-optic dysplasia: the clinical insignificance of an absent septum pellucidum.
AUTHOR(S): Williams-J; Brodsky-MC; Griebel-M; Glasier-CM; Caldwell-D; Thomas-P
ADDRESS OF AUTHOR: Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock 72202.
SOURCE (BIBLIOGRAPHIC CITATION): Dev-Med-Child-Neurol. 1993 Jun; 35(6): 490-501
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Neurodevelopmental assessments were performed on seven patients with optic nerve hypoplasia and absence of the septum pellucidum on MRI. The evaluation included neurological status, language development, neuropsychological functioning, and behavioral and emotional adjustment. Six of the seven were found to have normal cognitive development, intact neurological status, normal language development and age-appropriate behavior. Abnormal findings included early poor motor coordination, which was felt to be closely related to decreased visual acuity, as well as subtle visual attentional problems which occurred even in patients who had normal vision in one eye. Congenital absence of the septum pellucidum was not associated with significant intellectual, behavioral or neurological deficits in the majority of these patients.
MEDLINE ACCESSION NUMBER: 1993279419
Record 28 of 30 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Septo-optic dysplasia associated with polyendocrine dysfunction.
AUTHOR(S): Shammas-NW; Brown-JD; Foreman-BW; Marutani-DR; Maddela-D; Tonner-D
ADDRESS OF AUTHOR: Department of Medicine, University of Rochester Medical Center, NY 14642.
SOURCE (BIBLIOGRAPHIC CITATION): J-Med. 1993; 24(1): 67-74
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Septo-optic dysplasia (SOD) is a rare congenital disease that has been described in association with hypothalamic dysfunction. A case of polyendocrine dysfunction is described in a 22 year-old white female with septo-optic dysplasia. Findings included atrophic optic nerves, a cavum septum pellucidum and a small pituitary gland detected by magnetic resonance imaging. The patient had central diabetes insipidus, Hashimoto's thyroiditis, and gestational diabetes mellitus. A review of the literature is presented. A careful and detailed endocrine evaluation is needed in patients with SOD.
MEDLINE ACCESSION NUMBER: 1993274218
Record 29 of 30 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Optic nerve hypoplasia. Clinical significance of associated central nervous system abnormalities on magnetic resonance imaging [published erratum appears in Arch Ophthalmol 1993 Apr;111(4):491]
AUTHOR(S): Brodsky-MC; Glasier-CM
ADDRESS OF AUTHOR: Department of Ophthalmology, University of Arkansas for Medical Sciences, Little Rock.
SOURCE (BIBLIOGRAPHIC CITATION): Arch-Ophthalmol. 1993 Jan; 111(1): 66-74
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Magnetic resonance imaging demonstrated coexistent central nervous system abnormalities in 30 of 40 patients with optic nerve hypoplasia. Based on their associated neuroradiological findings, these patients were placed into one of five categories: group 1, isolated optic nerve hypoplasia; group 2, absence of the septum pellucidum; group 3, posterior pituitary ectopia; group 4, hemispheric migration anomalies; and group 5, intrauterine/perinatal hemispheric injury. Posterior pituitary ectopia (group 3) and cerebral hemispheric abnormalities (groups 4 and 5) were found to be highly predictive of pituitary hormone deficiency and neurodevelopmental deficits, respectively. Isolated absence of the septum pellucidum (group 2) was associated with normal neurodevelopmental and endocrinologic function. Thinning or agenesis of the corpus callosum was predictive of neurodevelopmental problems only by virtue of its frequent association with cerebral hemispheric abnormalities. Magnetic resonance imaging can now be used to provide specific prognostic information regarding the likelihood of neurodevelopmental deficits and pituitary hormone deficiency in infants with optic nerve hypoplasia. The prevailing notion of septo-optic dysplasia as a distinct nosologic entity should be reconsidered.
MEDLINE ACCESSION NUMBER: 1993143518
Record 30 of 30 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Radiological cases of the month. Septo-optic dysplasia (De Morsier syndrome).
AUTHOR(S): Lau-KY; Tam-W; Lam-PK; Wood-BP
ADDRESS OF AUTHOR: Department of Radiology, Princess Margaret Hospital, Hong Kong.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Dis-Child. 1993 Jan; 147(1): 71-2
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MEDLINE ACCESSION NUMBER: 1993118600