Oman Journal of Ophthalmology

CLINICAL QUIZ
Year
: 2012  |  Volume : 5  |  Issue : 3  |  Page : 203-

Two cases with one diagnosis


Farida Al Belushi, Huda Al Farsi 
 Department of Ophthalmology, Al Nahdha Hospital, Muscat, Sultanate of Oman

Correspondence Address:
Huda Al Farsi
OMSB Ophthalmology Resident, Al Nahdha Hospital, Muscat
Sultanate of Oman




How to cite this article:
Al Belushi F, Al Farsi H. Two cases with one diagnosis.Oman J Ophthalmol 2012;5:203-203


How to cite this URL:
Al Belushi F, Al Farsi H. Two cases with one diagnosis. Oman J Ophthalmol [serial online] 2012 [cited 2022 Oct 3 ];5:203-203
Available from: https://www.ojoonline.org/text.asp?2012/5/3/203/106110


Full Text

 Case 1



A four year-old Omani child, presented with right eye proptosis at the age of four months. She was diagnosed to have congenital glaucoma.

Physical Examination revealed the following [Figure 1], [Figure 1]a and b, [Figure 2]: {Figure 1}{Figure 2}

Computed Tomography (CT) scan of the orbits showed the following [Figure 3]:

What is the most likely diagnosisName the clinical signs shown in the [Figure 1]a, b and [Figure 2]List two findings on CT orbits{Figure 3}

 Case 2



A 23-year-old Omani female presented with a history of gradual reduction of vision in the right eye. Clinical examination showed multiple skin lesions similar to those in patient 1 [Figure 4]. Slit Lamp examination revealed iris nodules in both eyes.{Figure 4}

Magnetic Resonance Imaging (MRI) brain done [Figure 5] on her showed:{Figure 5}

4. What the MRI was suggestive of

5. What are the criteria for diagnosing this medical condition

 View Answer

 Answers



            Case 1:Neurofibromatosis type 11a,b: Café-au-lait spot 2:iris Lisch nodulessphenoid bone hypoplasia and buphthalmos

Case 2:Right optic nerve gliomaNeurofibromatosis type 1 is diagnosed only when two or more criteria from the following group of seven are met:

Six or more café-au-lait spots > 5 mm in diameter in prepubescents or 15 mm in diameter in postpubenscentsTwo or more neurofibromas of any type or one plexiform neurofibromaFreckling of axillary, inguinal, or other intertriginous areas.Optic nerve gliomaTwo or more iris Lisch nodulesA distinctive osseous lesion, such as, sphenoid bone dysplasia or thinning of the long bone cortex, with or without pseudarthrosisA first-degree relative with NF1, according to the above-mentioned criteria

Neurofibromatosis type 1 (NF1) also known as von Recklinghausen disease, manifests characteristic lesions composed of melanocytes or neuroglial cells, which are both, primarily, derivatives of neural crest mesenchyme.

Neurofibromatosis type 1 is a familial disorder, inherited as an autosomal dominant disorder. The genetic locus of NF1 is on the long arm of chromosome 17 (17q11.2). The general features include multiple fibromas, pigmented skin lesions, osseous malformation, and associated tumors.

Neurofibromas are histologically benign and may take the form of either fibroma molluscum or plexiform neurofibromas. They may involve the eyelid, the face, and occasionally cause marked deformities. Lisch nodules are pigmented iris hamartomas present in 94-97% of the patients with NF1, who are over the age of six years.

Other ocular manifestations include congenital glaucoma and retinal astrocytomas. Osseous defects commonly involve the greater wing of the sphenoid, but may involve the orbits also. Multiple tumors of the brain, spinal cord, and meninges, as well as cranial, peripheral, and sympathetic nerves may be encountered in these patients. Optic nerve or chiasmal glioma in children is frequently associated with neurofibromatosis. These lesions cause proptosis and visual loss, but are rarely life threatening. Treatment for these lesions is controversial.

Legends

Figure 1: Four-year-old child with right eye proptosis, (a) Café-au-lait spot (case 1), (b) Café-au-lait spot (case 1)Figure 2: Iris lisch nodules (case 1)Figure 3: Computed tomography of head and orbit (case 1)Figure 4: Café-au-lait spot (case 2)Figure 5: Magnetic resonance imaging of the brain and orbit (case 2)