Congenital third nerve palsy in septo-optic dysplasia
http://www.100md.com
《英国眼科学杂志》
Department of Ophthalmology, University Graz, Austria
Correspondence to:
A Langmann MD
Department of Ophthalmology, Medical University, Auenbruggerplatz 4, University Graz, Austria; andrea.langmann@uni-graz.at
Accepted for publication 28 October 2003
Keywords: third nerve palsy; septo-optic dysplasia
Paediatric oculomotor nerve palsies are rare lesions. The most frequently cited mechanism is perinatal injury to the peripheral third nerve,1 although they may be due to congenital absence of the nerve and/or nucleus and be accompanied by neurological deficits.2–4 Septo-optic dysplasia consists of optic hypoplasia, mid-brain malformations, and hypothalamohypophyseal dysfunction. We present three children with congenital third nerve palsy and septo-optic dysplasia.
Case reports
We report on three children with bilateral optic nerve hypoplasia, with visual function from light projection to 0.05 and nystagmus. Magnetic resonance imaging revealed absent septum pellucidum, thinning of corpus callosum, and posterior pituitary ectopia in two cases and infundibular hypoplasia in the third case. They had anterior pituitary hormone deficiency—growth hormone, adrenocorticotrophic hormone, and hypothyroidism in case one and two, with additional diabetes insipidus in the third case. There were no other associated brain or ocular anomalies. These children had no positive history of perinatal trauma, drugs, or toxic agents. There was no history of parental consanguinity.
Case 1: unilateral, left, pupil sparing third nerve palsy, with fixed exodeviation of 45 prism dioptres and hypotropia of 30 prism dioptres, no aberrant regeneration, no ptosis.
Case 2: fixing with the paretic left eye (visual acuity 0.05 both eyes) demonstrated an elevation deficit of –3, adduction deficit of –2 on this side but good depression. There was no ptosis, anisocoria, or aberrant regeneration of the oculomotor nerve.
The third case was brought to our attention immediately after birth with bilateral third nerve palsy and pupil involvement on the left side (figs 1 and 2). Orthoptic examination revealed bilateral defective medial gaze and elevation and defective depression on the left side. In course of the first year of life pupillary reaction recovered without aberrant regeneration. At the age of 12 years the child died during febrile illness.
Figure 1 Bilateral third nerve palsy with pupillary involvement left side, age 3 months.
Figure 2 Optic hypoplasia.
Comment
Our three children with septo-optic dysplasia had unilateral congenital third nerve palsy in two cases and bilateral palsy in one case. There was no ptosis and no involvement of the contralateral superior rectus muscle in the two patients with unilateral nerve disturbance, indicative perhaps of peripheral nerve defect. A possible explanation for the lack of aberrant regeneration may be due to extreme atrophy or even absence of the third nerve.5 The child with bilateral third nerve palsy (case 3) had postnatal pupillary involvement in one eye, with regeneration within 1 year. 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.5,6
Two theories have been proposed regarding the pathogenesis of septo-optic dysplasia. As all affected components arise from different tissues and processes at different times developmental anomaly or dysplasia makes little embryological sense. Genetic causes are exceptional.7 A vascular disruptive sequence similar to porencephaly, possibly involving the proximal trunk of the anterior cerebral artery is discussed by Lubinsky.8 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 theory of secondary degeneration.
References
Hamed LM. Associated neurologic and ophthalmologic findings in congenital oculomotor nerve palsy. Ophthalmology 1991;98:708–14.
Balkan R , Hoyt CS. Associated neurological abnormalities in congenital third nerve palsies. A J ophthalmol 1984;97:315–19.
Brodsky M , Conte F, Taylor D, et al. Sudden death in septo-optic dysplasia. Arch Ophthalmol 1997;115:66–7.
Sun Ch.Ch. , Kao L-Y. Unilateral congenital third nerve palsy. Chan Gung Med J 2000;23:776–80.
Norman MG. Unilateral encephalomalacia in cranialnerve nuclei in neonates: report of two cases. Neurology 1976;24:424.
Schulz E , Jung H. Unilateral congenital oculomotor nerve palsy, optic nerve hypoplasia and pituitary malformation. A preliminary report. Strabismus 2001;9:33–5.
Tajima T , Hattorri T, Nakajima T, et al. Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined hormone deficiency in a Japanese patient. J Clin Endocrinol Metab 2003;8:45–5.
Lubinsky M . Hypothesis: septo-optic dysplasia is a vascular disruption sequence. Am J Med Genet 1997;69:235–6.(A Langmann and S Lindner)
Correspondence to:
A Langmann MD
Department of Ophthalmology, Medical University, Auenbruggerplatz 4, University Graz, Austria; andrea.langmann@uni-graz.at
Accepted for publication 28 October 2003
Keywords: third nerve palsy; septo-optic dysplasia
Paediatric oculomotor nerve palsies are rare lesions. The most frequently cited mechanism is perinatal injury to the peripheral third nerve,1 although they may be due to congenital absence of the nerve and/or nucleus and be accompanied by neurological deficits.2–4 Septo-optic dysplasia consists of optic hypoplasia, mid-brain malformations, and hypothalamohypophyseal dysfunction. We present three children with congenital third nerve palsy and septo-optic dysplasia.
Case reports
We report on three children with bilateral optic nerve hypoplasia, with visual function from light projection to 0.05 and nystagmus. Magnetic resonance imaging revealed absent septum pellucidum, thinning of corpus callosum, and posterior pituitary ectopia in two cases and infundibular hypoplasia in the third case. They had anterior pituitary hormone deficiency—growth hormone, adrenocorticotrophic hormone, and hypothyroidism in case one and two, with additional diabetes insipidus in the third case. There were no other associated brain or ocular anomalies. These children had no positive history of perinatal trauma, drugs, or toxic agents. There was no history of parental consanguinity.
Case 1: unilateral, left, pupil sparing third nerve palsy, with fixed exodeviation of 45 prism dioptres and hypotropia of 30 prism dioptres, no aberrant regeneration, no ptosis.
Case 2: fixing with the paretic left eye (visual acuity 0.05 both eyes) demonstrated an elevation deficit of –3, adduction deficit of –2 on this side but good depression. There was no ptosis, anisocoria, or aberrant regeneration of the oculomotor nerve.
The third case was brought to our attention immediately after birth with bilateral third nerve palsy and pupil involvement on the left side (figs 1 and 2). Orthoptic examination revealed bilateral defective medial gaze and elevation and defective depression on the left side. In course of the first year of life pupillary reaction recovered without aberrant regeneration. At the age of 12 years the child died during febrile illness.
Figure 1 Bilateral third nerve palsy with pupillary involvement left side, age 3 months.
Figure 2 Optic hypoplasia.
Comment
Our three children with septo-optic dysplasia had unilateral congenital third nerve palsy in two cases and bilateral palsy in one case. There was no ptosis and no involvement of the contralateral superior rectus muscle in the two patients with unilateral nerve disturbance, indicative perhaps of peripheral nerve defect. A possible explanation for the lack of aberrant regeneration may be due to extreme atrophy or even absence of the third nerve.5 The child with bilateral third nerve palsy (case 3) had postnatal pupillary involvement in one eye, with regeneration within 1 year. 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.5,6
Two theories have been proposed regarding the pathogenesis of septo-optic dysplasia. As all affected components arise from different tissues and processes at different times developmental anomaly or dysplasia makes little embryological sense. Genetic causes are exceptional.7 A vascular disruptive sequence similar to porencephaly, possibly involving the proximal trunk of the anterior cerebral artery is discussed by Lubinsky.8 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 theory of secondary degeneration.
References
Hamed LM. Associated neurologic and ophthalmologic findings in congenital oculomotor nerve palsy. Ophthalmology 1991;98:708–14.
Balkan R , Hoyt CS. Associated neurological abnormalities in congenital third nerve palsies. A J ophthalmol 1984;97:315–19.
Brodsky M , Conte F, Taylor D, et al. Sudden death in septo-optic dysplasia. Arch Ophthalmol 1997;115:66–7.
Sun Ch.Ch. , Kao L-Y. Unilateral congenital third nerve palsy. Chan Gung Med J 2000;23:776–80.
Norman MG. Unilateral encephalomalacia in cranialnerve nuclei in neonates: report of two cases. Neurology 1976;24:424.
Schulz E , Jung H. Unilateral congenital oculomotor nerve palsy, optic nerve hypoplasia and pituitary malformation. A preliminary report. Strabismus 2001;9:33–5.
Tajima T , Hattorri T, Nakajima T, et al. Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined hormone deficiency in a Japanese patient. J Clin Endocrinol Metab 2003;8:45–5.
Lubinsky M . Hypothesis: septo-optic dysplasia is a vascular disruption sequence. Am J Med Genet 1997;69:235–6.(A Langmann and S Lindner)