scholarly journals Endocrine Dysfunction in Children with Zika-Related Microcephaly Who Were Born during the 2015 Epidemic in the State of Pernambuco, Brazil

Viruses ◽  
2020 ◽  
Vol 13 (1) ◽  
pp. 1
Author(s):  
Andréia Veras Gonçalves ◽  
Demócrito de B. Miranda-Filho ◽  
Líbia Cristina Rocha Vilela ◽  
Regina Coeli Ferreira Ramos ◽  
Thalia V. B. de Araújo ◽  
...  
Keyword(s):  
Optic Nerve ◽  
Viral Infections ◽  
Case Series ◽  
Optic Nerve Hypoplasia ◽  
Endocrine Dysfunction ◽  
Careful Monitoring ◽  
Early Puberty ◽  
Growth Impairment ◽  
Appropriate Treatment ◽  
The Brain

Congenital viral infections and the occurrence of septo-optic dysplasia, which is a combination of optic nerve hypoplasia, abnormal formation of structures along the midline of the brain, and pituitary hypofunction, support the biological plausibility of endocrine dysfunction in Zika-related microcephaly. In this case series we ascertained the presence and describe endocrine dysfunction in 30 children with severe Zika-related microcephaly from the MERG Pediatric Cohort, referred for endocrinological evaluation between February and August 2019. Of the 30 children, 97% had severe microcephaly. The average age at the endocrinological consultation was 41 months and 53% were female. The most frequently observed endocrine dysfunctions comprised short stature, hypothyroidism, obesity and variants early puberty. These dysfunctions occurred alone 57% or in combination 43%. We found optic nerve hypoplasia (6/21) and corpus callosum hypoplasia (20/21). Seizure crises were reported in 86% of the children. The most common—and clinically important—endocrine dysfunctions were pubertal dysfunctions, thyroid disease, growth impairment, and obesity. These dysfunctions require careful monitoring and signal the need for endocrinological evaluation in children with Zika-related microcephaly, in order to make early diagnoses and implement appropriate treatment when necessary.

scholarly journals Ocular, Neurologic and Systemic Findings of the Cases with Optic Nerve Hypoplasia

2016 ◽  
Vol 10 (1) ◽  
pp. 5-11 ◽  
Author(s):  
Eyyup Karahan ◽  
Ayse Tulin Berk
Keyword(s):  
Optic Nerve ◽  
Chart Review ◽  
Retrospective Chart Review ◽  
Optic Nerve Hypoplasia ◽  
Refractive Errors ◽  
Poor Vision ◽  
The Relationship ◽  
The Brain ◽  
Ocular Signs ◽  
Neurologic Findings

Aim: To describe the associated ocular, neurologic, and systemic findings in a population of children with optic nerve hypoplasia (ONH) and to evaluate the relationship between ocular signs and neurologic findings. Method: A retrospective chart review of 53 patients with the diagnosis of ONH seen between December 1998 and September 2012 was performed. All neurodevelopmental anomalies, neuroradiologic findings, endocrinologic and systemic findings were recorded. Poor vision was defined as the visual acuity poorer than logMAR 1.0 or inadequate central steady maintained fixation. Results: Thirty (56.6%) of the 53 children with ONH were boys. Mean age at presentation was 56.2±46.8 months (range; 3 months to 18 years). Poor vision defined for the purpose of this study was found in 47.2% of 53 patients. Thirty-three (62.3%) children had nystagmus. Thirty-four (64.2%) children had strabismus. Thirteen (38.2%) of those with strabismus had esotropia, 20 (58.8%) had exotropia. The total number of the children with neurodevelopmental deficit was 22 (41.5%) in our study. Conclusion: The vision of young children with ONH should be monitored at least annually, and any refractive errors should be treated. Neuroimaging of the brain and endocrinologic evaluation is necessary in all cases with ONH.

Septo-optic dysplasia with fovea plana: A case report

2020 ◽  
Vol 30 (5) ◽  
pp. NP36-NP40
Author(s):  
Ali Keles ◽  
Cagri Ilhan ◽  
Mehmet Yasin Teke ◽  
Kemal Tekin
Keyword(s):  
Case Report ◽  
Optic Nerve ◽  
Optic Nerve Hypoplasia ◽  
Developmental Abnormality ◽  
Resonance Imaging ◽  
Blurred Vision ◽  
Good Visual Acuity ◽  
The Brain ◽  
Optic Disc Hypoplasia ◽  
Central Fovea

Septo-optic dysplasia (SOD) is characterized by optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain. The phenotype of SOD is highly heterogeneous, and the existence of at least two features is considered sufficient for diagnosis. Fovea plana is the absence of a foveal pit in the central fovea, and despite being a developmental abnormality of the fovea, good visual acuity may be retained in some individuals. In this case, a 12-year-old female presented to the ophthalmology clinic with the complaint of blurred vision in her right eye. In dilated fundus examination, optic disc hypoplasia and no foveal light reflex were seen. Magnetic resonance imaging and optical coherence tomography revealed optic nerve, brain midline, and foveal abnormalities. The patient was diagnosed as having SOD with optic nerve hypoplasia and septum pellucidum agenesis, and fovea plana. Both SOD and fovea plana are rare conditions, and there are several reports in the literature that separately describe their clinical features. The most important aspect of this case report is to reveal the unusual co-existence of SOD and fovea plana in a young patient.

Onset of pituitary hormone deficiencies in optic nerve hypoplasia: a temporal trend analysis of 32 children at Mayo Clinic

2020 ◽  
Vol 33 (1) ◽  
pp. 139-145
Author(s):  
Heather D. Wadams ◽  
Nidhi Gupta ◽  
Paul Novotny ◽  
Peter J. Tebben
Keyword(s):  
Optic Nerve ◽  
Age At Onset ◽  
Retrospective Chart Review ◽  
Thyroid Stimulating Hormone ◽  
Optic Nerve Hypoplasia ◽  
Pituitary Hormone ◽  
Magnetic Resonance Imaging Mri ◽  
Repeat Assessment ◽  
The Brain

AbstractBackgroundThe objective of this study was to evaluate the age at onset and frequency of individual pituitary hormone deficiencies (PHDs) in optic nerve hypoplasia (ONH).MethodsWe performed a retrospective chart review of patients ≤21 years of age evaluated between 1996 and 2014. Patients were included if they had: (1) ONH diagnosed by an ophthalmologist and/or magnetic resonance imaging (MRI), (2) documentation of pituitary hormone function on at least two separate occasions and (3) at least one PHD documented or a midline abnormality of the brain on MRI.ResultsThirty-two patients (18 females, 14 males) were included (median age, 8 years [range, 1.1–21.0 years]). All patients had ONH (bilateral, n = 31; unilateral, n = 1) and at least one midline abnormality of the brain. At least one PHD was present in 75% of patients (n = 24). The remaining 25% of patients (n = 8) did not develop any PHD at least until the last follow-up (<2–8.6 years of follow-up), despite the presence of ONH and a midline abnormality of the brain. The median age (years) at diagnosis of antidiuretic hormone (ADH), thyroid-stimulating hormone (TSH), adrenocorticotropic hormone (ACTH) and growth hormone (GH) deficiencies was 0.5, 0.6, 0.7 and 1.6, respectively. Twenty-three percent of all PHDs were identified during the neonatal period, 56% by 12 months and 72% by 36 months of age. The latest age at diagnosis of GH, ACTH and TSH deficiencies was 9.6, 9.9 and 12.6 years, respectively.ConclusionsThe majority of the PHDs in ONH develop within the first 3 years of life. We propose evaluation for endocrinopathies at the time of diagnosis of ONH, with repeat assessment for new deficiencies every 3–4 months until age 3 years and at least semi-annually until growth and puberty are complete.

scholarly journals Endocrine Status in Patients with Optic Nerve Hypoplasia: Relationship to Midline Central Nervous System Abnormalities and Appearance of the Hypothalamic-Pituitary Axis on Magnetic Resonance Imaging

2003 ◽  
Vol 88 (11) ◽  
pp. 5281-5286 ◽  
Author(s):  
N. H. Birkebæk ◽  
L. Patel ◽  
N. B. Wright ◽  
J. R. Grigg ◽  
S. Sinha ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Optic Nerve ◽  
Magnetic Resonance ◽  
Optic Nerve Hypoplasia ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Endocrine Dysfunction ◽  
Resonance Imaging ◽  
Hypothalamic Pituitary Axis ◽  
Group 2

Abstract We here: 1) describe the phenotypic spectrum, including magnetic resonance imaging (MRI) appearances of the pituitary stalk and anterior and posterior pituitary [H-P (hypothalamic-pituitary) axis], in children with optic nerve hypoplasia (ONH) with or without an abnormal septum pellucidum (SP); and 2) define endocrine dysfunction according to the MRI findings. Medical records of 55 children with ONH who had been assessed by ophthalmology and endocrine services were reviewed. All had MRI of the brain and H-P axis. Forty-nine percent of the ONH patients had an abnormal SP on MRI, and 64% had a H-P axis abnormality. Twenty-seven patients (49%) had endocrine dysfunction, and 23 of these had H-P axis abnormality. The frequency of endocrinopathy was higher in patients with an abnormal SP (56%) than a normal SP (39%). Patients were divided into four groups based on SP and H-P axis appearance: 1) both normal; 2) abnormal SP and normal H-P axis; 3) normal SP and abnormal H-P axis; and 4) both abnormal. The frequency of multiple pituitary hormone deficiency was highest (56%) in group 4, lower (35%) in group 3, and even lower (22%) in group 2. Precocious puberty was most common in group 2. None of the patients in group 1 had endocrine dysfunction. Thus, SP and H-P axis appearances on MRI can be used to predict the likely spectrum of endocrinopathy.

Neuroimaging and endocrine disorders in paediatric optic nerve hypoplasia

2017 ◽  
Vol 102 (7) ◽  
pp. 906-910 ◽  
Author(s):  
Xiaoxiao Qian ◽  
Samksha Fouzdar Jain ◽  
Linda A Morgan ◽  
Travis Kruse ◽  
Monina Cabrera ◽  
...  
Keyword(s):  
Optic Nerve ◽  
Medical Center ◽  
Brain Mri ◽  
Optic Nerve Hypoplasia ◽  
Endocrine Disorders ◽  
Mri Findings ◽  
Paediatric Ophthalmology ◽  
The University ◽  
The Brain

PurposeOptic nerve hypoplasia (ONH) is one of the leading causes of blindness among children. The purpose of this retrospective study is to determine the risk factors and association between brain MRI findings, pituitary abnormalities and endocrine disorders with the presence of ONH.MethodsA retrospective review of patients seen at paediatric ophthalmology clinics from January 2006 to December 2016 at Children’s Hospital and Medical Center and the University of Nebraska Medical Center was performed. All patients with a documented diagnosis of ONH or septo-optic dysplasia were identified. MRI and endocrinology results were analysed by masked examiners.ResultsOut of 77 patients, overall incidence of abnormal pituitary on MRI was 35.1% and the incidence of endocrine abnormalities was 37.7%. Of the 57 patients with bilateral ONH, 23 (40.4%) had an abnormal pituitary while 4 of the 20 patients (20.0%) with unilateral ONH had an abnormal pituitary on MRI. The sensitivity and specific of brain MRI as signs of endocrinopathy are 67.9% and 83.3%, respectively.ConclusionThis study has determined that abnormal MRI findings do not have the sensitivity to predict endocrinopathy, nor does a normal MRI rule out possible endocrine abnormalities. When patients with ONH present with normal neurological examinations, normal endocrine workup and normal developmental milestones, a MRI of the brain may be deferred until new indications arise. Regardless of the MRI status, children with ONH should have a comprehensive endocrine evaluation and continue to have routine endocrine follow-up.

scholarly journals Ophthalmic Manifestation and Pathological Features in a Cohort of Patients With Linear Nevus Sebaceous Syndrome and Encephalocraniocutaneous Lipomatosis

2021 ◽  
Vol 9 ◽  
Author(s):  
Yan Yan ◽  
Siyi Zhang ◽  
Henghua Zhou ◽  
Yixiong Zhou ◽  
Yao Fu
Keyword(s):  
Optic Nerve ◽  
Case Series ◽  
Optic Nerve Hypoplasia ◽  
Ocular Involvement ◽  
Pathological Features ◽  
Encephalocraniocutaneous Lipomatosis ◽  
Department Of Ophthalmology ◽  
Study Population ◽  
Nevus Sebaceous ◽  
Craniofacial Defects

Purpose: This study aimed to figure out the association between ophthalmic and pathological features in patients with Linear Nevus Sebaceous Syndrome (LNSS) and in patients with Oculoectodermal Syndrome—Encephalocraniocutaneous Lipomatosis (OES-ECCL).Methods: It is a retrospective, non-consecutive, observational case series. Twenty-seven patients (12 with LNSS and 15 with OES-ECCL, 41 eyes) referred to the Department of Ophthalmology of the Shanghai Ninth People's Hospital between 2000 and 2020 were included. The mean age of the study population for the first-time consult was 5.7 years, ranging from 3 months to 34 years. Clinical notes, pathological records, and imaging findings were reviewed in all the patients.Results: Fourteen (51.9%) cases showed bilateral ocular involvement. Epibulbar choristomas were seen in all the patients. All the lesions involved the conjunctiva and cornea simultaneously. Multiple lesions were observed in 12 eyes. Of the 14 excised lesions, 11 were found to be complex choristomas. Further, 24 (89%) patients had eyelid coloboma. Also, 13 patients (48%) were diagnosed with strabismus, and 12 patients (44%) had abnormal fundus imaging, including optic nerve hypoplasia.Conclusions: LNSS and OES-ECCL shared common ophthalmic features, including epibulbar choristomas with distinctive characteristics, eyelid coloboma, strabismus, and optic nerve hypoplasia. The complex choristoma was found to be associated with the diseases. These specific patterns can be diagnostic clues to distinguish them from other syndromes, such as craniofacial defects, and to remind ophthalmologists that such patients require additional dermatological and neurological examinations and referral. Moreover, a thorough evaluation of ocular conditions is imperative for early interventions.

scholarly journals Neural Stem Cells: What Happens When They Go Viral?

Viruses ◽  
2021 ◽  
Vol 13 (8) ◽  
pp. 1468
Author(s):  
Yashika S. Kamte ◽  
Manisha N. Chandwani ◽  
Alexa C. Michaels ◽  
Lauren A. O’Donnell
Keyword(s):  
Stem Cells ◽  
Neural Stem Cells ◽  
Viral Infections ◽  
Wide Spectrum ◽  
Cell Types ◽  
Developmental Abnormalities ◽  
Multipotent Progenitor Cells ◽  
The Central Nervous System ◽  
Simplex Virus ◽  
The Brain

Viruses that infect the central nervous system (CNS) are associated with developmental abnormalities as well as neuropsychiatric and degenerative conditions. Many of these viruses such as Zika virus (ZIKV), cytomegalovirus (CMV), and herpes simplex virus (HSV) demonstrate tropism for neural stem cells (NSCs). NSCs are the multipotent progenitor cells of the brain that have the ability to form neurons, astrocytes, and oligodendrocytes. Viral infections often alter the function of NSCs, with profound impacts on the growth and repair of the brain. There are a wide spectrum of effects on NSCs, which differ by the type of virus, the model system, the cell types studied, and the age of the host. Thus, it is a challenge to predict and define the consequences of interactions between viruses and NSCs. The purpose of this review is to dissect the mechanisms by which viruses can affect survival, proliferation, and differentiation of NSCs. This review also sheds light on the contribution of key antiviral cytokines in the impairment of NSC activity during a viral infection, revealing a complex interplay between NSCs, viruses, and the immune system.

Unilateral optic nerve hypoplasia in a case of septo-optic dysplasia

2021 ◽  
Author(s):  
R. El Hachimi ◽  
S. Benchekroun ◽  
R. El Hadiri ◽  
L.O. Cherkaoui
Keyword(s):  
Optic Nerve ◽  
Optic Nerve Hypoplasia
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