The Prevalence of Brain Abnormalities in Japanese Patients with Optic Nerve Hypoplasia

Septo-optic dysplasia (SOD), also referred to as de Morsier syndrome, is a rare congenital condition, characterized by two of the classic triad features: midline brain abnormalities, optic nerve hypoplasia (ONH) and pituitary endocrine dysfunction. We report 5 children with SOD, originally referred to be evaluated due to short stature, who also presented bilateral optic nerve hypoplasia, nystagmus and development delay. In 4 of the patients, we identified neuroimaging abnormalities of the hypothalamo-pituitary axis such as anterior pituitary hypoplasia (3/5), ectopic posterior pituitary (4/5), thin or absent stalk (3/5) and empty sella (1/5). We also encountered diverse pituitary deficiencies: growth hormone (3/5), adrenocorticotropic hormone (3/5), thyroid-stimulating hormone (2/5) and antidiuretic hormone (1/5). Only one child presented intact pituitary function and anatomy. Although rare, SOD is an important cause of congenital hypopituitarism and it should be considered in children with optic nerve hypoplasia or midline brain abnormalities for early diagnosis and treatment.

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Three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies

Pediatric Reports ◽

10.4081/pr.2011.e20 ◽

2011 ◽

Vol 3 (3) ◽

pp. 20 ◽

Cited By ~ 3

Author(s):

Kuniko Takanashi ◽

Yashuto Suzuki ◽

Ayumu Noro ◽

MInako Sugiyama ◽

Masanori Nakanishi ◽

...

Keyword(s):

Optic Nerve ◽

Growth Failure ◽

Japanese Patients ◽

Optic Nerve Hypoplasia ◽

Hormone Deficiency ◽

Pituitary Hormone ◽

Impaired Liver Function ◽

Pituitary Hormone Deficiency ◽

Impaired Liver ◽

Congenital Hypopituitarism

The clinical phenotype of congenital pituitary hormone deficiency is variable and can be associated with a number of structural abnormalities of the central nervous system. We report three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies. Two of the patients initially showed strabismus and unilateral optic nerve hypoplasia. Thereafter, growth failure became evident, leading to the diagnosis of pituitary hormone deficiency. The other patient had severe congenital hypopituitarism with respiratory distress and hypoglycemia from the first day of life. In addition, he had prolonged jaundice and impaired liver function with bilateral optic nerve hypoplasia. Neuroimaging of the pituitary region in all three patients demonstrated a small anterior pituitary lobe and no pituitary stalk. Our findings indicate that clinical variability of congenital hypopituitarism must be considered. In a patient with ophthalmological symptoms, endocrine evaluation and neuroimaging of the CNS including the pituitary region should be considered.

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Septo-optic dysplasia, multiple pituitary hormone deficiency and optic nerve hypoplasia: clinical and neuroradiological characteristics

Endocrine Abstracts ◽

10.1530/endoabs.36.p76 ◽

2014 ◽

Author(s):

Maria Guemes ◽

Manuela Cerbone ◽

Tessa Kasia ◽

Louise Gregory ◽

Mehul Dattani

Keyword(s):

Optic Nerve ◽

Optic Nerve Hypoplasia ◽

Hormone Deficiency ◽

Pituitary Hormone ◽

Multiple Pituitary Hormone Deficiency ◽

Pituitary Hormone Deficiency

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

Journal Français d Ophtalmologie ◽

10.1016/j.jfo.2020.08.015 ◽

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

Viruses ◽

10.3390/v13010001 ◽

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.

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