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Primary Pituitary Disease
Published in John C Watkinson, Raymond W Clarke, Louise Jayne Clark, Adam J Donne, R James A England, Hisham M Mehanna, Gerald William McGarry, Sean Carrie, Basic Sciences Endocrine Surgery Rhinology, 2018
Christopher M. Jones, John Ayuk
Combined pituitary hormone deficiency may also arise as part of a syndrome, as is the case in septo-optic dysplasia, Rieger’s syndrome and holoprosencephaly.6 Septo-optic dysplasia carries an incidence of approximately 1:10 000 and both sporadic and familial cases have been described with HESX1, SOX2 and SOX3 implicated in the pathogenesis of this disorder.7 Hypoplasia of both the pituitary and optic nerve is seen as a consequence, in addition to defects of the midline forebrain. This commonly results in neurological defects. Visual impairment and variable endocrine deficiencies – the most common of which are isolated GH deficiency and combined TSH and ACTH deficiency – are also seen.
Congenital third nerve palsy in septo-optic dysplasia
Published in Jan-Tjeerd de Faber, 28th European Strabismological Association Meeting, 2020
Third nerve paresis or palsy occurs uncommonly in children and is often (45%, 9) congenital caused by adverse intrauterine events or traumatic delivery. The presumed mechanism is compression of the nerve crossing the tentorial edge or a diffusely increased intracranial pressure. Direct injury to the nerve during amniocentesis is discussed as well. Although congenital third nerve palsy is mostly an isolated defect accompanied neurological deficit are known (1,2). We present three children with congenital third nerve paresis/palsy in septooptic dysplasia, de Morsier syndrome. These children had unilateral palsy in two cases and bilateral palsy in one case. There was no ptosis and no involvement of the contralateral rectus superior in the two patients with unilateral nerve disturbance, indicative perhaps for peripheral nerve defect, although there was no evidence of perinatal trauma and no aberrant regeneration. A possible explanation for the lack of aberrant regeneration may be due to extreme atrophy or even absence of the third nerve (10). The child with bilateral third nerve palsy (case 3) had postnatal pupillary involvement in one eye, with regeneration within one year. Thus underlining the hypothesis that fibrotic changes in eye muscles found in strabismus surgery in the patient with third nerve palsy of Schulz (8) who had an additional miotic pupil on the involved eye after regeneration of pupillary involvement were secondary abnomalities rather than developmental muscle deficiencies. Peripheral nerve damage as well as nuclear defects may have been responsible. Previous reports in the literature showed that several kinds of brain damage could result in congenital oculomotor palsies, such as brainstem infarction, cerebellar and midbrain hypoplasia, absence of basal ganglia etc (3, 6). Two theories have been proposed regarding the pathogenesis of septo-optic dysplasia, a variable combination of absent septum pellucidum, optic nerve hypoplasia and pituitary abnormalities. As all components arise from different tissues and processes at different times developmental anomaly or dysplasia makes little embryologic sense. Genetic causes are exceptional (11). A vascular disruptive sequence similar to porencephaly, possibly involving the proximal trunk of the anterior cerebral artery is discussed by Lubinsky (5). Our findings of congenital third nerve palsy in de Morsier syndrome do not support this hypothesis, as the third cranial nerve and its nuclei are not within the territorial distribution of the anterior cerebral artery and there were no additional defects in the median and paramedian areas of the frontal lobes. The partial palsy in case two, with some amount of adduction, elevation and depression and the recovery of the pupillary involvement in case three implicate probably prenatal traumatic, infectious or toxic insults, thus supporting the second theory of secondary degeneration, although prenatal and perinatal history was unremarkable in our cases.
Diagnostic yield of targeted next-generation sequencing in infantile nystagmus syndrome
Published in Ophthalmic Genetics, 2021
Jae-Hwan Choi, Su-Jin Kim, Mervyn G. Thomas, Jae-Ho Jung, Eun Hye Oh, Jin-Hong Shin, Jae Wook Cho, Hyang-Sook Kim, Ji-Yun Park, Seo Young Choi, Hee Young Choi, Kwang-Dong Choi
We recruited 37 unrelated patients who were referred to the Neuro-ophthalmology clinics of two university hospitals (PNUH and PNUYH) for evaluations of INS. INS was defined as conjugate oscillations of the eyes with an onset within the first 6 months of life (1). The patients included 23 males and 14 females with ages ranging from 6 to 72 years (36.3 ± 16.9 years, mean±SD). Ten of the patients had a family history of INS, and the remaining 27 were sporadic cases. The patients received detailed ophthalmic examinations, including measurement of the best-corrected visual acuity using the Snellen chart, refractive error, strabismus, abnormal head posture (AHP), slit-lamp examination of the anterior and posterior segments, and a dilated fundus examination. Spectral-domain OCT (Visante OCT, Carl Zeiss Meditec, Dublin, CA, USA) was used to acquire tomograms of the anterior and posterior segments, as described previously (8,9). Eye movements were recorded binocularly using infrared video-oculography (SLMED, Seoul, Korea), as described previously (9,10). Types of nystagmus waveforms were classified based on the 12 waveforms described by Dell’Osso and Daroff (11). Twenty-two patients received brain magnetic resonance imaging (MRI) either as an initial test or subsequent test, which only one showed abnormal result with septo-optic dysplasia.
FEVR phenotype associated with septo-optic dysplasia
Published in Ophthalmic Genetics, 2019
David L. Zhang, Michael P. Blair, Janice L. Zeid, Syeda S.T. Basith, Michael J. Shapiro
In this report, we described a case of septo-optic dysplasia with a FEVR phenotype. The diagnosis of septo-optic dysplasia is based on a clinical triad of optic nerve hypoplasia, pituitary hormone abnormalities, and midline brain defects (1). 29 to 31 percent of affected cases displayed all three characteristics of the disorder (8–10), while 71 percent of patients were found to have two of the three features (9). Our patient presented with all three features consistent with a diagnosis of SOD. A wide variation in clinical features and associated morbidities have been reported (11), and systemic findings include developmental delay and symptoms suggestive of hormonal deficiencies. Management of the condition usually involves identification of hormonal deficiencies and hormone replacement therapy (1).
Septo-optic dysplasia presenting with nystagmus, pseudo-disc edema, and fovea hypoplasia
Published in Ophthalmic Genetics, 2022
Richard Sather ΙΙΙ, Dorothy Thompson, Jacqueline Ihinger, Sandra R. Montezuma
The clinical presentation and eventual diagnosis of septo-optic dysplasia in this child was complex. The family history of “lazy eye” and parental concerns regarding infantile esotropia and nystagmus triggered further ophthalmological examination. The patient’s fair skin and light-colored hair, blond fundi, and decreased foveal contour (although no transillumination defects) led to suspicions of oculocutaneous albinism to explain the child’s development of nystagmus, strabismus, and mild photophobia.