PMC5892312_01
Magnetic resonance image (MRI) of the patient's head and MR urography. a MRI of the head revealed a thin corpus callosum, fissile brain disease, and polymicrogyria. b MR urography revealed hydronephrosis.
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F1
Intensive Care Unit at Osaka Medical College Hospital, Takatsuki-City, Japan, to investigate the causes of his condition. In regard to brain abnormalities, magnetic resonance imaging (MRI) of the boy's head revealed a thin corpus callosum, fissile brain disease, and polymicrogyria (Fig. 1a). Examination by MR urography revealed prominent ureteral dilation and hydronephrosis, and stenosis was observed at both the left and right ureteral inlets (Fig. 1b).
PMC5892312_02
Anterior segment photograph obtained 1 month after birth (a right eye, b left eye). Slight hypopigmentation was observed in the iris in both eyes.
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F2
In regard to anterior ocular segment findings, the cornea was clear but slight hypopigmentation was observed in the iris (Fig. 2a, b).
Fundus photograph obtained 1 month after birth (a right eye, b left eye). Hypopigmentation of the retinal pigment epithelium and the choroid and optic atrophy were observed in both eyes.
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F3
In regard to fundus examination findings, hypopigmentation of the retinal pigment epithelium and the choroid and optic atrophy were observed in both eyes (Fig. 3a, b).