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Research ArticlePediatrics

Midbrain-Hindbrain Involvement in Septo-Optic Dysplasia

M. Severino, A.E.M. Allegri, A. Pistorio, B. Roviglione, N. Di Iorgi, M. Maghnie and A. Rossi
American Journal of Neuroradiology August 2014, 35 (8) 1586-1592; DOI: https://doi.org/10.3174/ajnr.A3959
M. Severino
aFrom the Neuroradiology Unit (M.S., A.R.)
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A.E.M. Allegri
bPediatric Department (A.E.M.A., N.D.I., M.M.)
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A. Pistorio
cEpidemiology and Biostatistics Unit (A.P.), Istituto Giannina Gaslini, Università di Genova, Genoa, Italy
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B. Roviglione
dUniversità di Genova (B.R.), Genoa, Italy.
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N. Di Iorgi
bPediatric Department (A.E.M.A., N.D.I., M.M.)
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M. Maghnie
bPediatric Department (A.E.M.A., N.D.I., M.M.)
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A. Rossi
aFrom the Neuroradiology Unit (M.S., A.R.)
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    Fig 1.

    A, Midsagittal T1-weighted image in a healthy child demonstrates how the measurements were performed: dotted lines indicate the AP diameter of the midbrain (1), pons (2), and medulla (3), dashed lines indicate the height of the midbrain (4), pons (5), and medulla (6), dash-dot line indicates the height of the vermis (7), and solid lines indicates the tegmento-vermian angle (8). B, Midsagittal T1-weighted image in a patient with SOD with visible brain stem abnormalities (group A) reveals hypoplasia of the pons and cerebellar vermis. Note the hypoplasia of the pituitary gland with ectopic posterior lobe (arrowhead) and associated small corpus callosum. C, Midsagittal T1-weighted image in a patient with SOD without visible brain stem abnormalities (group B) reveals grossly normal brain stem and vermis. Note the absence of the normal posterior pituitary bright spot (arrow).

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    Fig 2.

    Boxplots of MH measurements in patients with SOD (group A and B) and healthy controls. AP diameter of the pons (A) and medulla (B), midbrain to pons ratio (C), height of the pons (D), and vermis (E) are shown.

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    Fig 3.

    Scatterplots of MH measurements for age categories in patients with SOD and healthy controls. AP diameter of the pons (A) and medulla (B), midbrain to pons ratio (C), height of the pons (D), and vermis (E) are shown. In healthy controls, the AP diameters and height of brain stem structures and vermis showed an exponential growth curve. The growth spurt was steep until 16 months of age. Thereafter, it became less steep, reaching the adult level at about 8 years of age. On the other hand, the M/P ratios remained stable in controls over time, with a mean value of 0.82. In patients of group A, the AP diameter of the pons and medulla and the pontine and vermian height were lower compared with the values observed in control subjects of the same age category; in patients of group B, pontine and vermis height values tended to be lower compared with the values of control subjects of the same age category but these differences did not reach statistical significance. C, Note the lower M/P ratio in the patient harboring the 14q22.1-q23.1 deletion (arrow) compared with the corresponding values in age-matched controls.

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    Fig 4.

    A, Midline sagittal T1-weighted image demonstrates hypoplasia of the pons and small vermis, and enlarged quadrigeminal plate with secondary aqueductal stenosis and triventricular hydrocephalus. Midline sagittal (B) and axial (C) T2-weighted images in another patient reveal agenesis of the epithalamus including agenesis of the pineal gland (dotted circle), stria medullaris, and posterior commissure.

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    Fig 5.

    Midsagittal T1-weighted image of the patient harboring the 14q22.1-q23.1 deletion shows a small and short midbrain with elongated pons and relatively larger superior portion of the cerebellar vermis. Note the small anterior pituitary gland with ectopic posterior lobe along the pituitary stalk (arrowhead).

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American Journal of Neuroradiology: 35 (8)
American Journal of Neuroradiology
Vol. 35, Issue 8
1 Aug 2014
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M. Severino, A.E.M. Allegri, A. Pistorio, B. Roviglione, N. Di Iorgi, M. Maghnie, A. Rossi
Midbrain-Hindbrain Involvement in Septo-Optic Dysplasia
American Journal of Neuroradiology Aug 2014, 35 (8) 1586-1592; DOI: 10.3174/ajnr.A3959

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Midbrain-Hindbrain Involvement in Septo-Optic Dysplasia
M. Severino, A.E.M. Allegri, A. Pistorio, B. Roviglione, N. Di Iorgi, M. Maghnie, A. Rossi
American Journal of Neuroradiology Aug 2014, 35 (8) 1586-1592; DOI: 10.3174/ajnr.A3959
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