Displaying publications 1 - 20 of 21 in total

  1. Ooi JCE, Azman A, Chan MY, Toh ESY, Seo GH, Kim JH, et al.
    Clin Genet, 2024 Feb;105(2):228-230.
    PMID: 37903629 DOI: 10.1111/cge.14448
    A novel homozygous variant in KIFBP was identified in a consanguineous family with four sibs affected by Goldberg-Sphrintzen Syndrome (GOSHS). We report for the first time, early-adulthood-onset progressive ataxia, opthalmoparesis, and hypogonadotropic hypogonadism in GOSHS.
    Matched MeSH terms: Ophthalmoplegia*
  2. Fukami Y, Wong AH, Funakoshi K, Safri AY, Shahrizaila N, Yuki N
    Eur J Neurol, 2016 Feb;23(2):320-6.
    PMID: 26176883 DOI: 10.1111/ene.12769
    Anti-GQ1b antibodies have been found in patients with Miller Fisher syndrome as well as its related conditions. Our aim was to identify the mechanism by which autoantibodies produce various clinical presentations in 'anti-GQ1b antibody syndrome'.
    Matched MeSH terms: Ophthalmoplegia
  3. Tan CT
    Med J Malaysia, 1981 Sep;36(3):186-7.
    PMID: 7329377
    Two cases of Syndromes of Ophthalmoplegia , Ataxia and Areflexia were reported. A brief discussion on its clinical feature and differential diagnosis was made.
    Matched MeSH terms: Ophthalmoplegia/etiology*
  4. Hobbs HE, Choyce DP
    Lepr Rev, 1971 Jun;42(2):131-7.
    PMID: 5150031
    Matched MeSH terms: Ophthalmoplegia/etiology
  5. Tan CY, Yuki N, Shahrizaila N
    J Neurol Sci, 2015 Nov 15;358(1-2):409-12.
    PMID: 26277343 DOI: 10.1016/j.jns.2015.08.009
    Miller Fisher syndrome is characterised by the triad of ophthalmoplegia, ataxia and areflexia. However, facial palsy can occur during the course of the illness although development of facial palsy when other cardinal signs of Miller Fisher syndrome have reached nadir or improving, is unusual. This delayed appearance of facial palsy can be easily overlooked by the treating clinician. Here, we report four patients with Miller Fisher syndrome and delayed-onset facial palsy. We discuss the possible underlying reasons behind the delay in facial palsy.
    Matched MeSH terms: Ophthalmoplegia
  6. Sim BNH, Joseph JP
    J R Coll Physicians Edinb, 2019 Dec;49(4):304-306.
    PMID: 31808458 DOI: 10.4997/JRCPE.2019.411
    Miller Fischer syndrome (MFS) is a variant of Guillain-Barré syndrome first described in 1956 and is characterised by the clinical triad of ophthalmoplegia, ataxia and areflexia. However, since its discovery, forme fruste and overlapping syndrome have been described. A forme fruste of MFS implies an attenuated form where not all of the clinical triad are present. In this report, a case of MFS is highlighted that was mistakenly treated as posterior circulation stroke, as well as the challenges faced in reaching the correct diagnosis and hence the appropriate treatment.
    Matched MeSH terms: Ophthalmoplegia/diagnosis; Ophthalmoplegia/etiology*
  7. Yeak J, Zahari M, Singh S, Mohamad NF
    Eur J Ophthalmol, 2019 Jul;29(4):NP1-NP4.
    PMID: 30280587 DOI: 10.1177/1120672118803532
    BACKGROUND: Acute ophthalmoparesis without ataxia was designated as 'atypical Miller Fisher syndrome' as it presents with progressive, relatively symmetrical ophthalmoplegia, but without ataxia nor limb weakness, in the presence of anti-GQ1b antibody. Idiopathic intracranial hypertension is characterized by signs of raised intracranial pressure occurring in the absence of cerebral pathology, with normal composition of cerebrospinal fluid and a raised opening pressure of more than 20 cmH2O during lumbar puncture. We aim to report a rare case of acute ophthalmoplegia with co-occurrence of raised intracranial pressure.

    CASE DESCRIPTION: A 28-year-old gentleman with body mass index of 34.3 was referred to us for management of double vision of 2 weeks duration. His symptom started after a brief episode of upper respiratory tract infection. His best corrected visual acuity was 6/6 OU. He had bilateral sixth nerve palsy worse on the left eye and bilateral hypometric saccade. His deep tendon reflexes were found to be hyporeflexic in all four limbs. No sensory or motor power deficit was detected, and his gait was normal. Plantar reflexes were downwards bilaterally and cerebellar examination was normal. Both optic discs developed hyperaemia and swelling. Magnetic resonance imaging of brain was normal and lumbar puncture revealed an opening pressure of 50 cmH2O. Anti-GQ1b IgG and anti-GT1a IgG antibody were tested positive.

    CONCLUSION: Acute ophthalmoparesis without ataxia can present with co-occurrence of raised intracranial pressure. It is important to have a full fundoscopic assessment to look for papilloedema in patients presenting with Miller Fisher syndrome or acute ophthalmoparesis without ataxia.

    Matched MeSH terms: Ophthalmoplegia/complications*; Ophthalmoplegia/diagnosis; Ophthalmoplegia/drug therapy; Ophthalmoplegia/immunology
  8. Ahmad SS, Ghani SA
    Oman J Ophthalmol, 2012 May;5(2):115-7.
    PMID: 22993469
    Kearns-Sayre syndrome (KSS) belongs to the group of neuromuscular disorders known as mitochondrial encephalomyopathies. It has characteristic syndromal features, which include: chronic progressive external ophthalmoplegia, bilateral atypical pigmentary retinopathy, and cardiac conduction abnormalities. So far, only a single case has been reported where a patient with KSS had a normal retina. Herein, we report this extremely rare variant of KSS, which not only presented later than the normal age of presentation, but also had minimal pigmentary retinopathy.
    Matched MeSH terms: Ophthalmoplegia, Chronic Progressive External
  9. Chong, Jia-Woei, Azlina Ahmad Annuar, Wong, Kum-Thong, Thong, Meow-Keong, Goh, Khean-Jin
    Neurology Asia, 2014;19(1):27-36.
    Mitochondrial DNA (mtDNA) deletions are a major cause of chronic progressive external ophthalmoplegia (CPEO) and Kearns-Sayre syndrome (KSS). We analyzed single mtDNA deletions in 11 CPEO and one KSS patients by means of Southern blot and long polymerase chain reaction (PCR) assays. The deletion sizes ranged from 3.4 kb to 6.9 kb whereas the heteroplasmy level varied from 18.8% to 85.5%. Two unique deletions sized 4320 bp and 4717 bp were found. This study represents the first genetic screen of mtDNA disorders in Malaysia, and it follows the data seen in other published reports on CPEO and KSS genetic aetiology.
    Matched MeSH terms: Ophthalmoplegia, Chronic Progressive External
  10. Asok T, Aziz S, Faisal HA, Tan AK, Mallika PS
    Med J Malaysia, 2009 Dec;64(4):323-4.
    PMID: 20954560 MyJurnal
    A 14 year old boy underwent a 7 hour long spinal surgery for scoliosis in the prone position. In the immediate postoperative period, he developed right proptosis, periorbital swelling, chemosis and total ophthalmoplegia. The vision in his right eye was only counting fingers and the intraocular pressure was 68 mmHg. Fundus examination revealed occlusion of the right central retinal artery. A rare manifestation of both vein and artery occlusion was possible in this patient as a result of external ocular compression due to a prolonged period in the prone position. This report highlights the importance of being aware of the possible complications of external ocular compression in non-ocular surgery.
    Matched MeSH terms: Ophthalmoplegia/etiology*
  11. Govindaraju R, Narayanan P
    N Engl J Med, 2016 Mar 31;374(13):e15.
    PMID: 27028934 DOI: 10.1056/NEJMicm1509943
    Matched MeSH terms: Ophthalmoplegia/etiology
  12. Bhattacharjee M, Venugopal B, Wong KT, Goto YI, Bhattacharjee MB
    Ultrastruct Pathol, 2006 Nov-Dec;30(6):481-7.
    PMID: 17183762
    The authors describe the case of a 50-year-old man with chronic progressive external ophthalmoplegia (CPEO), diabetes mellitus (DM), and coronary artery disease. The patient had no cardiac conduction abnormalities. During coronary artery bypass surgery, his heart and two skeletal muscles were biopsied. All three muscles showed ragged red fibers. The heart muscle showed significant glycogen accumulation. Analysis of mitochondrial DNA (mtDNA) showed a 5019-base-pair deletion, with no duplications. There were morphologically abnormal mitochondria in all 3 muscles, with clinically apparent difference in preservation of function. The combination of diabetes mellitus and mtDNA deletion is fortuitous, as they can be causally linked. The cardiac pathology allows speculation about the possible adaptive processes that may occur in the heart in DM. There are few reported cases with CPEO and excess glycogen in the heart. Most show deposition of fat and poorer clinical outcomes as compared to those with glycogen deposition. This observation may lend support to the hypothesis that in the myocardium, adaptive responses are mediated via changes in glucose handling, whereas alterations in fat metabolism likely represent maladaptation.
    Matched MeSH terms: Ophthalmoplegia, Chronic Progressive External/complications*; Ophthalmoplegia, Chronic Progressive External/pathology
  13. Foo SH, Sobah SA
    PMID: 25045522 DOI: 10.1530/EDM-14-0029
    Hypopituitarism is a rare presentation of Burkitt's lymphoma (BL). The purpose of this report is to present a case of BL presenting with panhypopituitarism and to review other case reports of lymphoma presenting with pituitary dysfunction to highlight the distinguishing features of these cases from other benign aetiologies of pituitary dysfunction such as non-functioning pituitary adenomas. We reviewed a total of 11 cases of lymphoma presenting with pituitary dysfunction published from 1998 to 2013 including the present case. The demographics, clinical presentations, laboratory features, radiological findings, histological diagnosis, treatment administered and outcomes were described. Of the total number of patients, 45.5% of the cases had diffuse large B-cell lymphoma while 27.3% had BL. Anterior pituitary dysfunction was more common than posterior pituitary dysfunction at presentation. The other common associated presenting symptoms were painful ophthalmoplegia, cranial nerve palsies and constitutional symptoms. Hypothalamic-pituitary abnormalities were often demonstrated radiologically to be associated with cavernous sinus and/or stalk involvement. All patients who completed immunochemotherapy responded haematologically. Pituitary dysfunction also improved in most cases although the recovery tended to be partial. In conclusion, a high index of suspicion of underlying malignancy, such as lymphoma, should be present in patients presenting with acute pituitary dysfunction associated with painful ophthalmoplegia, rapidly evolving neurological features, radiological features atypical of a pituitary adenoma and constitutional symptoms. An early diagnosis is essential as prompt initiation of definitive therapy will induce disease remission and recovery of pituitary dysfunction.
    Matched MeSH terms: Ophthalmoplegia
  14. Sulaiman W, Othman A, Mohamad M, Salleh HR, Mushahar L
    Malays J Med Sci, 2002 Jul;9(2):43-6.
    PMID: 22844223 MyJurnal
    Two cases of Wernicke's encephalopathy due to hyperemesis gravidarum are described. The first patient presented with bilateral papilloedema, altered sensorium and the second with bilateral retinal haemorrhages, ophthalmoplegia and nystagmus. Both patients were diagnosed with Wernicke's encephalopathy on clinical ground since there were no laboratory facilities to measure red cell transketolase and thiamine pyrophosphate levels. This is a rare but treatable complication of hyperemesis gravidarum (HG) and due to lack of diagnostic tools, there is often diagnostic uncertainty, delay in commencing appropriate treatment, as well as irreversible damage to the upper brain stem and death.
    Matched MeSH terms: Ophthalmoplegia
  15. Tan CY, Razali SNO, Goh KJ, Shahrizaila N
    J Clin Neurol, 2021 Apr;17(2):273-282.
    PMID: 33835749 DOI: 10.3988/jcn.2021.17.2.273
    BACKGROUND AND PURPOSE: Several variants of Guillain-Barré syndrome (GBS) and Miller Fisher syndrome (MFS) exist, but their frequencies vary in different populations and do not always meet the inclusion criteria of the existing diagnostic criteria. However, the GBS classification criteria by Wakerley and colleagues recognize and define the clinical characteristics of each variant. We applied these criteria to a GBS and MFS cohort with the aim of determining their utility.

    METHODS: Consecutive GBS and MFS patients presenting to our center between 2010 and 2020 were analyzed. The clinical characteristics, electrophysiological data, and antiganglioside antibody profiles of the patients were utilized in determining the clinical classification.

    RESULTS: This study classified 132 patients with GBS and its related disorders according to the new classification criteria as follows: 64 (48.5%) as classic GBS, 2 (1.5%) as pharyngeal-cervical-brachial (PCB) variant, 7 (5.3%) as paraparetic GBS, 29 (22%) as classic MFS, 3 (2.3%) as acute ophthalmoparesis, 2 (1.5%) as acute ataxic neuropathy, 2 (1.5%) as Bickerstaff brainstem encephalitis (BBE), 17 (12.9%) as GBS/MFS overlap, 4 (3%) as GBS/BBE overlap, 1 (0.8%) as MFS/PCB overlap, and 1 (0.8%) as polyneuritis cranialis. The electrodiagnosis was demyelinating in 55% of classic GBS patients but unclassified in 79% of classic MFS patients. Anti-GM1, anti-GD1a, anti-GalNAc-GD1a, and anti-GD1b IgG ganglioside antibodies were more commonly detected in the axonal GBS subtype, whereas the anti-GQ1b and anti-GT1a IgG ganglioside antibodies were more common in classic MFS and its subtypes.

    CONCLUSIONS: Most of the patients in the present cohort met the criteria of either classic GBS or MFS, but variants were seen in one-third of patients. These findings support the need to recognize variants of both syndromes in order to achieve a more-complete case ascertainment in GBS.

    Matched MeSH terms: Ophthalmoplegia
  16. Ng S, Wong, KT, Goh KJ
    Neurology Asia, 2013;18(2):177-181.
    Myopathies, although presenting more commonly in the younger age group, can occur and contribute significantly to disability in the elderly. To describe the spectrum of elderly myopathies, we reviewed 52 elderly patients (> 65 years) from the University of Malaya Medical Centre muscle biopsy databank, constituting 6.8% of 759 adult patients (> 18 years) who underwent muscle biopsy between 1992 and 2012. Commonest were the inflammatory myopathies (41/52, 78.8%), of which 43.9% had dermatomyositis; 23.9% polymyositis; 14.6% sporadic inclusion body myositis; 9.8% undifferentiated myositis and 2.4% overlap myositis. Seven patients (13.4%) had genetic myopathy; 2 muscular dystrophy and 5 chronic progressive external ophthalmoplegia, while 4 patients (7.7%) had drug-associated myopathy, 3 with statins. Malignancies were seen in 9.8% of inflammatory myopathies at diagnosis. Both acquired and genetic myopathies are seen in elderly Malaysians of all ethnicities and should not be misdiagnosed as some are potentially treatable and/or associated with malignancy.
    Matched MeSH terms: Ophthalmoplegia, Chronic Progressive External
  17. Shavani, Abirami, Adil Hussein, Wan-Hazabbah W.H.
    To report a rare case of an elderly gentleman who presented with herpes zoster ophthalmicus, complicated with persistent hyphema and orbital apex syndrome. A 75-year-old Malay gentleman presented with left herpes zoster ophthalmicus that was complicated with complete ophthalmoplegia and ptosis. He developed total hyphema in the affected eye with a secondary elevated intraocular pressure after a week. He was treated with oral acyclovir and topical corticosteroids. However, the total hyphema persisted that required an anterior chamber washout surgery. Herpes Zoster Ophthalmicus complicated with persistent hyphema and orbital apex syndrome is rare and very challenging to manage. Radiological imaging is important to exclude other causes of OAS. It is recommended to treat HZO with systemic acyclovir for a longer duration in view of ocular and neurological involvement.
    Matched MeSH terms: Ophthalmoplegia
  18. Ng, Benjamin Han Sim, Prakash Supahiah, Goh, Siew Yuen
    Cerebral venous thrombosis (CVT) is a neurological condition occurring because of thrombosis involving the cerebral venous sinuses. This case report is an unusual clinical manifestation of cerebral venous thrombosis in a 76-year-old Chinese man who presented with restricted eye movement and double vision. Despite extensive investigation, there was no better explanation for his clinical symptom and sign apart from cerebral venous thrombosis which was confirmed by magnetic resonance venography (MRV) of the brain. Once cerebral venous thrombosis was diagnosed, he was initiated on anticoagulation and discharged with oral warfarin. This case emphasizes the need to consider cerebral venous thrombosis as one of the rare causes of complex ophthalmoplegia especially when typical cardiovascular risk factors are lacking in an individual.
    Matched MeSH terms: Ophthalmoplegia
  19. Tevaraj JM, Li Min ET, Mohd Noor RA, Yaakub A, Wan Hitam WH
    PMID: 27738538
    Neurofibromatosis type 2 usually presents with bilateral acoustic schwannomas. We highlight the rare presentation of neurofibromatosis initially involving third nerve. A 23-year-old Malay female presented with left eye drooping of the upper lid and limitation of upward movement for 8 years. It was associated with right-sided body weakness, change in voice, and hearing disturbance in the right ear for the past 2 years. On examination, there was mild ptosis and limitation of movement superiorly in the left eye. Both eyes had posterior subcapsular cataract. Fundoscopy showed generalised optic disc swelling in both eyes. She also had palsy of the right vocal cord, as well as the third and eighth nerve. There was wasting of the distal muscles of her right hand, with right-sided decreased muscle power. Pedunculated cutaneous lesions were noted over her body and scalp. MRI revealed bilateral acoustic and trigeminal schwannomas with multiple extra-axial lesions and intradural extramedullary nodules. Patient was diagnosed with neurofibromatosis type 2 and planned for craniotomy and tumour debulking, but she declined treatment. Neurofibromatosis type 2 may uncommonly present with isolated ophthalmoplegia, so a thorough physical examination and a high index of suspicion are required to avoid missing this condition.
    Matched MeSH terms: Ophthalmoplegia
  20. Ng, WL, Umi Kalthum MN, Jemaima CH, Norshamsiah MD
    Frontal mucocele is not commonly masked as upper lid abscess.A 72-year-old Chinese man with underlying hyperthyroidism complained of left upper eyelid swelling of 6 months duration. The swelling had persisted and worsen when intravenous antibiotic was changed oral type. Visual acuity on presentation was hand motion and reverse relative afferent pupillary defect was present. Because the swelling was large and resulted in mechanical ptosis and ophthalmoplegia, a CT imaging was performed, which showed huge left frontal mucocele eroding the supereromedial orbital rim. The left globe was displaced inferolaterally but there was no extension into brain parenchyma. Fundus examination showed pale optic disc with dull macula. Old laser marks were seen at peripheral fundus. Referral to ortholaryngologist was made and endoscopic sinus surgery and evacuation of mucopyocoele was done. Culture and sensitivity of the fluid showed no organism. He recovered well postoperatively with additional two weeks of antibiotics. We highlight the necessity of surgical drainage of mucocele, following a course of antibiotic.
    Matched MeSH terms: Ophthalmoplegia
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