- Email: [email protected]
Moyamoya disease presenting to the ophthalmology clinic
CORRESPONDENCE Moyamoya disease presenting to the ophthalmology clinic
A
16-year-old girl presented to her family doctor after a fall caused by a dizzy spell. The physician measured her vision, which prompted referral to the ophthalmology department. She reported “always” having had poor sight in her left eye. On examination her visual acuities were 6/4 OD and no perception of light OS. A left exotropia was evident. The right optic disc appeared normal, whereas the left showed features typical of a morning glory anomaly. She had a history at the age of 5 years of vacant episodes associated with weakness of her right hand and leg. The electroencephalogram (EEG) performed at that time was suggestive but not diagnostic of epilepsy. The petit-mal type episodes stopped occurring and no anticonvulsant treatment was required. She had attended ophthalmic clinics at the age of 6 years. Vision then was recorded at 6/6 OD and 6/12 OS with her small myopic correction. Occlusion of the right eye was attempted but abandoned as no change in acuity resulted. At 17 years of age, she had a magnetic resonance imaging (MRI) scan of her brain. Narrowing of the internal carotid arteries and their branches, cortical atrophy in the left parietal and occipital areas indicating previous infarctions, and abnormal dilatation of perforating blood vessels were evident. Magnetic resonance angiography (Fig. 1) detected a plume of increased signal, like a puff of smoke, and the diagnosis of moyamoya disease was made. The Japanese for “puff of smoke” gives the name to moyamoya disease.1 It is an occlusive vasculopathy affecting the distal internal carotid artery and proximal cerebral arteries. It is extremely rare, with an incidence in Japan of 0.35 per 100 000 per year, ten times the incidence in North America and Europe.2 The aetiology is unknown.1 The presentation is bimodal, presenting in children under 10 years of age with transient ischemic attacks, established cerebral infarcts, seizures, neuropsychological problems, and cognitive decline.3 The classic angiographic sign, the puff of smoke, represents basal collateral circulation and may occur in other conditions.2 Morning glory disc anomaly is associated with poor but stable vision. In the present case, vision deteriorated from 6/12 to no perception of light over the patient’s
CAN J OPHTHALMOL—VOL. 41, NO. 5, 2006
Fig. 1—Top: Magnetic resonance image, axial view.Arrowheads show areas of cortical atrophy. Bottom: Magnetic resonance angiogram shows puff of smoke (arrowhead) typical of moyamoya vessels.
childhood, which is not typical of morning glory anomaly alone. This deterioration may be due to the infarctions in the parietal and occipital lobes affecting the visual pathway, although we found no visual field defects in the right eye and central vision was 6/5. Anomalies of structures in close proximity, like the eyes, base of the skull, and the circle of Willis, can occur together.4 Moyamoya disease has previously been associated with morning glory disc anomaly.5 Moyamoya is distinguished from other congenital disc anomalies by the presence of abnormal retinal vasculature. Thus, abnormal vascular development in utero may underlie the association between morning glory anomaly and moyamoya. Closer questioning of patients with morning glory disc anomaly may reveal vague or subtle neurological symptoms that may justify MRI angiography to exclude abnormal intracranial vascular development. Morning glory disc anomaly with deteriorating vision or any neurological symptoms or signs or a V-shaped choroidal coloboma warrants further investigation.
633
Correspondence
There are no competing interests. Written consent was obtained from the patient for use of this information for publication in a journal or book, available worldwide and online to anybody, including the public, journalists, and potentially somebody who might recognise her, despite every effort being made to ensure her anonymity.
Michael Williams, MRCOphth
Royal Victoria Hospital Belfast, Northern Ireland [email protected]
REFERENCES 1. Fukui M, Kono S, Sueishi K, Ikezaki K. Moyamoya disease. Neuropathology 2000;20(suppl):S61–4. 2. Yonekawa Y, Kahn N. Moyamoya disease. Adv Neurol 2003;92:113–8. 3. Punt J. Surgical management of paediatric stroke. Pediatr Radiol 2004;34:16–23. 4. Narayanan M, Arvind MA, Prema R. Moyamoya syndrome. Indian Pediatr 2004;41:496–9. 5. Sabti K, Hajj BA, Hwang J-M, Traboulsi EI, Reid J. Congenital third nerve palsy, moyamoya disease and optic nerve head staphyloma. Br J Ophthalmol 2005;89:778–9.
Allam Adas, FRCR Naresh Sharma, DO, FRCS, FRCOphth, PhD Mark Gibson, FRCP
Altnagelvin Area Hospital Londonderry, Northern Ireland
WE ARE
IN NEED
VOTRE AIDE, S.V.P.
Manuscript submissions have accelerated phenomenonally ever since the CJO opened its doors to welcome online submission. We need your help to review these manuscripts.
La soumission des manuscrits s’est accélérée de façon phénoménale depuis que la JCO les accueille en ligne, au point que nous avons besoin d’aide pour les évaluer.
Are you an ophthalmologist? Have you published in medical journals? Yes? You are indeed a treasure and we want you. Reach out and contact us at [email protected]
Êtes-vous ophtalmologiste ? Avez-vous publié dans des journaux médicaux ? Oui ? Votre expérience est précieuse. C’est vous qu’il nous faut. N’hésitez pas à nous joindre à [email protected].
634
CAN J OPHTHALMOL—VOL. 41, NO. 5, 2006
A
16-year-old girl presented to her family doctor after a fall caused by a dizzy spell. The physician measured her vision, which prompted referral to the ophthalmology department. She reported “always” having had poor sight in her left eye. On examination her visual acuities were 6/4 OD and no perception of light OS. A left exotropia was evident. The right optic disc appeared normal, whereas the left showed features typical of a morning glory anomaly. She had a history at the age of 5 years of vacant episodes associated with weakness of her right hand and leg. The electroencephalogram (EEG) performed at that time was suggestive but not diagnostic of epilepsy. The petit-mal type episodes stopped occurring and no anticonvulsant treatment was required. She had attended ophthalmic clinics at the age of 6 years. Vision then was recorded at 6/6 OD and 6/12 OS with her small myopic correction. Occlusion of the right eye was attempted but abandoned as no change in acuity resulted. At 17 years of age, she had a magnetic resonance imaging (MRI) scan of her brain. Narrowing of the internal carotid arteries and their branches, cortical atrophy in the left parietal and occipital areas indicating previous infarctions, and abnormal dilatation of perforating blood vessels were evident. Magnetic resonance angiography (Fig. 1) detected a plume of increased signal, like a puff of smoke, and the diagnosis of moyamoya disease was made. The Japanese for “puff of smoke” gives the name to moyamoya disease.1 It is an occlusive vasculopathy affecting the distal internal carotid artery and proximal cerebral arteries. It is extremely rare, with an incidence in Japan of 0.35 per 100 000 per year, ten times the incidence in North America and Europe.2 The aetiology is unknown.1 The presentation is bimodal, presenting in children under 10 years of age with transient ischemic attacks, established cerebral infarcts, seizures, neuropsychological problems, and cognitive decline.3 The classic angiographic sign, the puff of smoke, represents basal collateral circulation and may occur in other conditions.2 Morning glory disc anomaly is associated with poor but stable vision. In the present case, vision deteriorated from 6/12 to no perception of light over the patient’s
CAN J OPHTHALMOL—VOL. 41, NO. 5, 2006
Fig. 1—Top: Magnetic resonance image, axial view.Arrowheads show areas of cortical atrophy. Bottom: Magnetic resonance angiogram shows puff of smoke (arrowhead) typical of moyamoya vessels.
childhood, which is not typical of morning glory anomaly alone. This deterioration may be due to the infarctions in the parietal and occipital lobes affecting the visual pathway, although we found no visual field defects in the right eye and central vision was 6/5. Anomalies of structures in close proximity, like the eyes, base of the skull, and the circle of Willis, can occur together.4 Moyamoya disease has previously been associated with morning glory disc anomaly.5 Moyamoya is distinguished from other congenital disc anomalies by the presence of abnormal retinal vasculature. Thus, abnormal vascular development in utero may underlie the association between morning glory anomaly and moyamoya. Closer questioning of patients with morning glory disc anomaly may reveal vague or subtle neurological symptoms that may justify MRI angiography to exclude abnormal intracranial vascular development. Morning glory disc anomaly with deteriorating vision or any neurological symptoms or signs or a V-shaped choroidal coloboma warrants further investigation.
633
Correspondence
There are no competing interests. Written consent was obtained from the patient for use of this information for publication in a journal or book, available worldwide and online to anybody, including the public, journalists, and potentially somebody who might recognise her, despite every effort being made to ensure her anonymity.
Michael Williams, MRCOphth
Royal Victoria Hospital Belfast, Northern Ireland [email protected]
REFERENCES 1. Fukui M, Kono S, Sueishi K, Ikezaki K. Moyamoya disease. Neuropathology 2000;20(suppl):S61–4. 2. Yonekawa Y, Kahn N. Moyamoya disease. Adv Neurol 2003;92:113–8. 3. Punt J. Surgical management of paediatric stroke. Pediatr Radiol 2004;34:16–23. 4. Narayanan M, Arvind MA, Prema R. Moyamoya syndrome. Indian Pediatr 2004;41:496–9. 5. Sabti K, Hajj BA, Hwang J-M, Traboulsi EI, Reid J. Congenital third nerve palsy, moyamoya disease and optic nerve head staphyloma. Br J Ophthalmol 2005;89:778–9.
Allam Adas, FRCR Naresh Sharma, DO, FRCS, FRCOphth, PhD Mark Gibson, FRCP
Altnagelvin Area Hospital Londonderry, Northern Ireland
WE ARE
IN NEED
VOTRE AIDE, S.V.P.
Manuscript submissions have accelerated phenomenonally ever since the CJO opened its doors to welcome online submission. We need your help to review these manuscripts.
La soumission des manuscrits s’est accélérée de façon phénoménale depuis que la JCO les accueille en ligne, au point que nous avons besoin d’aide pour les évaluer.
Are you an ophthalmologist? Have you published in medical journals? Yes? You are indeed a treasure and we want you. Reach out and contact us at [email protected]
Êtes-vous ophtalmologiste ? Avez-vous publié dans des journaux médicaux ? Oui ? Votre expérience est précieuse. C’est vous qu’il nous faut. N’hésitez pas à nous joindre à [email protected].
634
CAN J OPHTHALMOL—VOL. 41, NO. 5, 2006