Limits...
A rare case of primary congenital glaucoma in combination with neurofibromatosis 1: a case report.

Li H, Liu T, Chen X, Xie L - BMC Ophthalmol (2015)

Bottom Line: In addition to typical glaucomatous optic neuropathy, the boy also had multiple café au lait patches all over his body, megacephaly (head circumference = 60 cm; body weight = 14 kg; height = 93 cm) and remarkable facial features included swollen, soft upper eyelids and a flat, broad nose sphenoid wing dysplasia, eyelid thickening, bony orbit enlargement were found.It is rare have both PCG and NF1, and PCG may be a prelude to NF1.Continuous follow-up should be advised and we should raise our awareness of the combined condition and to improve chances for an early diagnosis.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Daping Hospital & Research Institute of Surgery, Third Military Medical University, Changjiang Branch Road, Chongqing, 400042, China. lihaijun2013238@sina.com.

ABSTRACT

Background: Neurofibromatosis 1 (NF1) is a common disease that mainly affects the skin and peripheral nervous system, and is characterized by bony dysplasia. Primary congenital glaucoma (PCG) is a sight-threatening disease that can manifest as a prodrome of NF1, especially in newborn babies. We report a case of PCG with NF 1.

Case presentation: A 1-month-old boy presented with an enlarged right eyeball. An increased IOP and typical glaucomatous optic neuropathy were found, on the initial physical examination, a clinical diagnosis of primary congenital glaucoma (PCG) was made and a trabeculectomy with mitomycin C (MMC) therapy was subsequently performed. Three year later, the boy again presented with an even larger right eye and a gradually expanding left one. In addition to typical glaucomatous optic neuropathy, the boy also had multiple café au lait patches all over his body, megacephaly (head circumference = 60 cm; body weight = 14 kg; height = 93 cm) and remarkable facial features included swollen, soft upper eyelids and a flat, broad nose sphenoid wing dysplasia, eyelid thickening, bony orbit enlargement were found.

Conclusions: It is rare have both PCG and NF1, and PCG may be a prelude to NF1. Continuous follow-up should be advised and we should raise our awareness of the combined condition and to improve chances for an early diagnosis.

No MeSH data available.


Related in: MedlinePlus

Focal areas of high signal intensity on T2 weighted MRI images in the left brainstem and the right cerebellum show likely gliosis or abnormal myelination. Dysplasia of the sphenoid wing is also present on the MRI of the head and orbit
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

License 1 - License 2
getmorefigures.php?uid=PMC4625924&req=5

Fig3: Focal areas of high signal intensity on T2 weighted MRI images in the left brainstem and the right cerebellum show likely gliosis or abnormal myelination. Dysplasia of the sphenoid wing is also present on the MRI of the head and orbit

Mentions: A one-month-old boy presented to the outpatient department of our hospital with an enlarged right eyeball and persistent crying since birth in 2008. He was carried to term and delivered by Cesarean section to a first-time mother. The infant had no familial history of glaucoma or other ocular disorders. On initial physical examination, the right eye was notably larger than the left one and had a horizontal corneal diameter of 14 mm. Intraocular pressure (IOP) was 30 mmHg in the right eye and 14 mmHg in the left eye, as measured by a Tono-pen (Medtronic, Inc., Jacksonville, Florida). In the right eye, corneal edema and bullous keratopathy were present and fundoscopy revealed optic disc cupping and relatively healthy rim tissue. Orbit ultrasonography and brain computed tomography were unremarkable. On the basis of the above findings, a clinical diagnosis of primary congenital glaucoma (PCG) was made in the right eye and a trabeculectomy, with mitomycin C (MMC) therapy, was subsequently performed. The operation was successful but postoperative follow-up was limited because of parental non-compliance. Three year later, in 2011, the boy again presented to our clinic, but this time with an even larger right eye and a gradually expanding left one. Because the boy was also irritable and agitated, further examination was performed under anesthesia. Megacephaly (head circumference = 60 cm; body weight = 14 kg; height = 93 cm) was present and remarkable facial features included swollen, soft upper eyelids and a flat, broad nose (Fig. 1). Both corneal edema and Haab’s striae were apparent in the right eye (Fig. 2). The corneal diameter was 15.5 mm and IOP, as measured by a Tono-pen, was 35 mmHg. In the left eye, the corneal diameter was 12.5 mm and IOP was 14 mmHg. A failed filtering bleb, mydriasis, and a dissolved lens were apparent in the right eye and iris ectropin was present in both eyes. Lisch nodules were also present in both eyes, but were slightly more prevalent in the left. Cup-to-disk ratios were 1.0 and 0.6 in the right and left eyes, respectively, and blood vessels were shifted nasally in both eyes. Anterior chamber angles were wide open in both eyes, but abundant pigmentation was visible. Axial length was 31 mm in the right eye and 27 mm in the left eye, as measured by ultrasound examination. The boy also had multiple café au lait patches all over his body. Focal areas of high signal intensity on T2-weighted MRI images showed likely gliosis or abnormal myelination in the left brainstem and the right cerebellum. Sphenoid wing dysplasia was also clearly present (Figs. 3 and 4). Eyelid thickening, bony orbit enlargement, extensive orbital soft tissue infiltration, choroidal/scleral layer enhancement, and irregular nodule optic nerve sheath thickening were present and were thought to all be caused by orbital plexiform neurofibromas (PNF) of the posterior ciliary nerves surrounding the optic nerve. Multiple café au lait patches and non-tender, clear-cut, soft subcutaneous nodules were found on the boy’s father upon examination (Figs. 5 and 6).Fig. 1


A rare case of primary congenital glaucoma in combination with neurofibromatosis 1: a case report.

Li H, Liu T, Chen X, Xie L - BMC Ophthalmol (2015)

Focal areas of high signal intensity on T2 weighted MRI images in the left brainstem and the right cerebellum show likely gliosis or abnormal myelination. Dysplasia of the sphenoid wing is also present on the MRI of the head and orbit
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4625924&req=5

Fig3: Focal areas of high signal intensity on T2 weighted MRI images in the left brainstem and the right cerebellum show likely gliosis or abnormal myelination. Dysplasia of the sphenoid wing is also present on the MRI of the head and orbit
Mentions: A one-month-old boy presented to the outpatient department of our hospital with an enlarged right eyeball and persistent crying since birth in 2008. He was carried to term and delivered by Cesarean section to a first-time mother. The infant had no familial history of glaucoma or other ocular disorders. On initial physical examination, the right eye was notably larger than the left one and had a horizontal corneal diameter of 14 mm. Intraocular pressure (IOP) was 30 mmHg in the right eye and 14 mmHg in the left eye, as measured by a Tono-pen (Medtronic, Inc., Jacksonville, Florida). In the right eye, corneal edema and bullous keratopathy were present and fundoscopy revealed optic disc cupping and relatively healthy rim tissue. Orbit ultrasonography and brain computed tomography were unremarkable. On the basis of the above findings, a clinical diagnosis of primary congenital glaucoma (PCG) was made in the right eye and a trabeculectomy, with mitomycin C (MMC) therapy, was subsequently performed. The operation was successful but postoperative follow-up was limited because of parental non-compliance. Three year later, in 2011, the boy again presented to our clinic, but this time with an even larger right eye and a gradually expanding left one. Because the boy was also irritable and agitated, further examination was performed under anesthesia. Megacephaly (head circumference = 60 cm; body weight = 14 kg; height = 93 cm) was present and remarkable facial features included swollen, soft upper eyelids and a flat, broad nose (Fig. 1). Both corneal edema and Haab’s striae were apparent in the right eye (Fig. 2). The corneal diameter was 15.5 mm and IOP, as measured by a Tono-pen, was 35 mmHg. In the left eye, the corneal diameter was 12.5 mm and IOP was 14 mmHg. A failed filtering bleb, mydriasis, and a dissolved lens were apparent in the right eye and iris ectropin was present in both eyes. Lisch nodules were also present in both eyes, but were slightly more prevalent in the left. Cup-to-disk ratios were 1.0 and 0.6 in the right and left eyes, respectively, and blood vessels were shifted nasally in both eyes. Anterior chamber angles were wide open in both eyes, but abundant pigmentation was visible. Axial length was 31 mm in the right eye and 27 mm in the left eye, as measured by ultrasound examination. The boy also had multiple café au lait patches all over his body. Focal areas of high signal intensity on T2-weighted MRI images showed likely gliosis or abnormal myelination in the left brainstem and the right cerebellum. Sphenoid wing dysplasia was also clearly present (Figs. 3 and 4). Eyelid thickening, bony orbit enlargement, extensive orbital soft tissue infiltration, choroidal/scleral layer enhancement, and irregular nodule optic nerve sheath thickening were present and were thought to all be caused by orbital plexiform neurofibromas (PNF) of the posterior ciliary nerves surrounding the optic nerve. Multiple café au lait patches and non-tender, clear-cut, soft subcutaneous nodules were found on the boy’s father upon examination (Figs. 5 and 6).Fig. 1

Bottom Line: In addition to typical glaucomatous optic neuropathy, the boy also had multiple café au lait patches all over his body, megacephaly (head circumference = 60 cm; body weight = 14 kg; height = 93 cm) and remarkable facial features included swollen, soft upper eyelids and a flat, broad nose sphenoid wing dysplasia, eyelid thickening, bony orbit enlargement were found.It is rare have both PCG and NF1, and PCG may be a prelude to NF1.Continuous follow-up should be advised and we should raise our awareness of the combined condition and to improve chances for an early diagnosis.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Daping Hospital & Research Institute of Surgery, Third Military Medical University, Changjiang Branch Road, Chongqing, 400042, China. lihaijun2013238@sina.com.

ABSTRACT

Background: Neurofibromatosis 1 (NF1) is a common disease that mainly affects the skin and peripheral nervous system, and is characterized by bony dysplasia. Primary congenital glaucoma (PCG) is a sight-threatening disease that can manifest as a prodrome of NF1, especially in newborn babies. We report a case of PCG with NF 1.

Case presentation: A 1-month-old boy presented with an enlarged right eyeball. An increased IOP and typical glaucomatous optic neuropathy were found, on the initial physical examination, a clinical diagnosis of primary congenital glaucoma (PCG) was made and a trabeculectomy with mitomycin C (MMC) therapy was subsequently performed. Three year later, the boy again presented with an even larger right eye and a gradually expanding left one. In addition to typical glaucomatous optic neuropathy, the boy also had multiple café au lait patches all over his body, megacephaly (head circumference = 60 cm; body weight = 14 kg; height = 93 cm) and remarkable facial features included swollen, soft upper eyelids and a flat, broad nose sphenoid wing dysplasia, eyelid thickening, bony orbit enlargement were found.

Conclusions: It is rare have both PCG and NF1, and PCG may be a prelude to NF1. Continuous follow-up should be advised and we should raise our awareness of the combined condition and to improve chances for an early diagnosis.

No MeSH data available.


Related in: MedlinePlus