MyMedR

Ice pack test-an useful bedside test to diagnose myasthenia gravis

Cheo SW, Low QJ, Mow WC, Chia YK

QJM, 2019 May 01;112(5):381-382.

PMID: 30517761 DOI: 10.1093/qjmed/hcy284

Matched MeSH terms: Blepharoptosis/diagnosis*; Blepharoptosis/etiology*

Acupuncture management of blepharoptosis: a case report

Kim YJ

Acupunct Med, 2020 06;38(3):201-202.

PMID: 31726848 DOI: 10.1177/0964528419883283

Matched MeSH terms: Blepharoptosis/therapy*

Fulltext Four siblings with congenital scoliosis and dysmorphism: a rare case of familial spondylocostal dysostosis

Sharina, M.K., Norliyana, M., Kamalnizat, I., Azmi, B., Mohd Hisam, M.A.

Medicine & Health, 2020;15(1):266-273.

MyJurnal

Skoliosis kongenital adalah perkembangan tulang belakang yang tidak normal yang merangkumi pembentukan sebahagian tulang sahaja, kurangnya pemisahan di antara tulang belakang atau kehilangan bahagian tertentu tulang belakang. Etiologi sebenar skoliosis kongenital masih tidak jelas. Walau bagaimanapun, ia dipengaruhi oleh kecenderungan genetik dan faktor persekitaran. Kami melaporkan siri kes skoliosis kongenital dengan ciri-ciri dismorfik dalam empat orang adik-beradik dan membincangkan mengenai sindrom spondylocostal dysostosis yang mempunyai kaitan dengan skoliosis kongenital. Ciri-ciri dismorfik termasuk hipertelorisme, ‘ptosis’ kedua-dua mata, 'high arch palate', langit-langit yang tinggi dan leher ‘webbed’. Pembedahan instrumentasi tulang belakang dilakukan dalam tiga adik beradik. Semua pesakit pulih dengan baik selepas pembedahan tanpa komplikasi kecederaan saraf. Rawatan susulan pada tahun pertama dan kedua selepas pembedahan menunjukkan tiada perubahan pada kadar lengkung dan tulang belakang telah bercantum.

Matched MeSH terms: Blepharoptosis

Fulltext Challenges in diagnosis and management of pseudoptosis secondary to asymmetrical skin creases

Ting SL, Koay AC, Yew YH, Chua CN

Med J Malaysia, 2011 Jun;66(2):121-3.

PMID: 22106691 MyJurnal

Asymmetrical eyelid skin crease may be mistaken for ptosis due to apparent narrowing of the palpebral fissure in the eye without the skin crease. This study describes a series of patients who were mistakenly referred for ptosis operation as a result of absent skin crease.

Matched MeSH terms: Blepharoptosis/diagnosis*

Fulltext Treatment response in osmotic demyelination syndrome presenting as severe parkinsonism, ptosis and gaze palsy

Abdul Halim S, Mohd Amin NA

BMJ Case Rep, 2018 Oct 21;2018.

PMID: 30344146 DOI: 10.1136/bcr-2018-225751

Osmotic demyelination syndrome commonly affects the pons and infrequently involves the extrapontine region. We report a patient with severe hyponatraemia who developed osmotic demyelination syndrome as a consequence of rapid sodium correction. The condition manifested as acute severe parkinsonism, bilateral ptosis and gaze impairment. MRI revealed typical features of central pontine and extrapontine myelinolysis. The patient improved gradually after treatment with a combination of levodopa, intravenous immunoglobulin and dexamethasone. However, it is important to emphasise that the improvement of neurological symptoms is not necessarily causal with these experimental therapies.

Matched MeSH terms: Blepharoptosis/complications; Blepharoptosis/diagnosis*; Blepharoptosis/drug therapy

Ocular presentation of sphenoid mucocele

Prepageran N, Subramaniam KN, Krishnan GG, Raman R

Orbit, 2004 Mar;23(1):45-7.

PMID: 15513020

A sphenoid mucocele often presents late due to its deep-seated anatomical site. It has a varied presentation, due to its close relationship to the cavernous sinus and the base of the skull. It can present initially to the ophthalmologist with ocular complaints. In the present paper, the authors present two cases of sphenoid mucocele, one with an isolated third and one with an isolated sixth cranial nerve palsy.

Matched MeSH terms: Blepharoptosis/diagnosis*; Blepharoptosis/surgery

Oculopharyngeal muscular dystrophy: a case report and a review of literature

Lim CT, Chew CT, Chew SH

Ann Acad Med Singap, 1992 May;21(3):399-403.

PMID: 1416791

Most muscular dystrophies manifest as peripheral muscular weakness commencing at various age, however, oculopharyngeal muscular dystrophy (OPMD) is a rare hereditary disorder presenting in middle age with progressive dysphagia and bilateral blepharoptosis rather than peripheral muscular weakness. In the medical literature, OPMD has been well described in Canadians of French descent. So far, there is no publication of OPMD in the Malaysia-Singapore medical literature. This article documents this condition in a Chinese patient. A review of the literature is presented and the management of OPMD is discussed.

Matched MeSH terms: Blepharoptosis/etiology*; Blepharoptosis/physiopathology

Fulltext Ptosis due to cavernous sinus syndrome as a rare presentation of advanced breast metastasis in a patient with delayed diagnosis

Khaw K, Ramli N, Rahmat K

Malays Fam Physician, 2012;7(1):31-3.

PMID: 25606243 MyJurnal

Complications of breast cancer metastasis may be the first manifestation of the disease. We report a rare case of left eye ptosis secondary to cavernous sinus syndrome in a 34-year-old lady due to refusal of proper medical treatment for metastatic breast cancer. The delay in seeking medical treatment was attributed to her use of Traditional Chinese Medicine (TCM).

Matched MeSH terms: Blepharoptosis

Fulltext Hemicrania Continua With Scintillating Scotoma: A Rare Presentation

Hussein A, Han Shu T, Chong MF, Cheah CF

Cureus, 2020 Sep 27;12(9):e10680.

PMID: 33133846 DOI: 10.7759/cureus.10680

Headache can be a primary or secondary disorder. The characteristics of headache and its associated features, especially the presence of red flag signs, are important in distinguishing secondary from primary causes. Hemicrania continua is a type of primary headache disorder characterized by a continuous unilateral headache with episodes of exacerbations and association with cranial autonomic symptoms, which include several ocular symptoms. The absolute response to indomethacin remains the hallmark of this disease. We would like to report a rare case of hemicrania continua with scintillating scotoma during exacerbations apart from the typical autonomic features of conjunctival injection, ptosis, eyelid edema, and lacrimation.

Matched MeSH terms: Blepharoptosis

"Mummy, my eyelids are heavy": A case series of juvenile myasthenia gravis

Krishna L, Abdul Jalil NF, Lott PW, Singh S, Choo MM

Eur J Ophthalmol, 2021 Mar;31(2):NP119-NP122.

PMID: 31390886 DOI: 10.1177/1120672119867605

PURPOSE: To report three cases of juvenile myasthenia gravis aged between 18 and 24 months with ocular symptoms as their first presentation.

METHOD: A case series.

RESULTS: We present a case series of juvenile myasthenia gravis in a tertiary centre in Malaysia. Two of the three cases consist of a pair of twins who presented with ptosis of bilateral eyes; the first twin presented 4 months later than the second twin. These two cases were positive for anti-acetylcholine receptor antibodies and had generalized myasthenia gravis, whereas the other case was negative for receptor antibodies and was purely ocular myasthenia gravis.

CONCLUSION: Juvenile myasthenia gravis is relatively rare in toddlers. Early diagnosis and commencement of treatment is important to slow the progression of the disease and avoiding life-threatening events.

Matched MeSH terms: Blepharoptosis/diagnosis*; Blepharoptosis/drug therapy; Blepharoptosis/genetics

Fulltext Images in clinical medicine. Carotid-cavernous sinus fistula

Govindaraju R, Narayanan P

N Engl J Med, 2016 Mar 31;374(13):e15.

PMID: 27028934 DOI: 10.1056/NEJMicm1509943

Matched MeSH terms: Blepharoptosis/etiology

Fulltext "Why do I always see double?" A misdiagnosed case of ocular myasthenia gravis for 10 years

Yousuf UA, Yashodhara BM, Thanigasalam T, Ting HS

BMJ Case Rep, 2014 May 02;2014.

PMID: 24792021 DOI: 10.1136/bcr-2013-203488

A 58-year-old man presented with diplopia and partial ptosis for 10 years. It was non-progressive in nature, despite inadequate medical attention the patient received from non-specialists/general practitioners. He did not have fatigability or diurnal variation in weakness and was clinically stable without exacerbations of disease for a decade. He did not have features of Graves's disease, oculopharyngeal dystrophy, cranial nerve paralysis, polymyositis and stroke. The possibility of an atypical presentation of myasthenia gravis (MG) was considered and the patient was evaluated. Ice pack test was negative, Cogan's lid twitch (CLT) test was positive and high titres of acetylcholine receptor antibodies (AChR Ab) suggestive of MG were found. He was treated accordingly with a very good response.

Matched MeSH terms: Blepharoptosis/drug therapy; Blepharoptosis/etiology

Fulltext Infected ptosis surgery - a rare complication from a multidrug-resistant organism

Jan-Bond C, Norazah AR, Sree-Kumar P, Zunaina E, Fazilawati Q

Clin Ophthalmol, 2015;9:721-4.

PMID: 25945032 DOI: 10.2147/OPTH.S81158

A 7-year-old boy had a case of congenital ptosis of the right eye and has undergone frontalis sling surgery using Gore-tex material. There was no intraoperative or immediate postoperative complication. However, the patient defaulted his follow-up and presented with right eye preseptal abscess secondary to infected surgical wound 1 month after surgery. He was treated with multiple antibiotics and underwent repeated incision and drainage procedures. However, there was still no resolution of the right eye preseptal abscess. The patient's condition subsequently improved after removal of the Gore-tex material and treatment with an antibiotic combination of ceftazidime and amikacin. Microbiological analysis finally isolated the multidrug resistant Acinetobacter species. At 6 months follow-up, his right upper eyelid was healed with scarring, but without ptosis.

Matched MeSH terms: Blepharoptosis

Fulltext Herpes Zoster Ophthalmicus, persistent hyphema and orbital apex syndrome; a blinding combination

Shavani, Abirami, Adil Hussein, Wan-Hazabbah W.H.

Journal of Biomedical and Clinical Sciences, 2017;2(2):48-51.

MyJurnal

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: Blepharoptosis

Delay and misdiagnosis in adult myasthenia gravis: A case report

Kwa, Siew Kim, Zainab Abdul Majeed, Tan, Kah Nian

International e-Journal of Science, Medicine & Education, 2016;10(3):37-39.

MyJurnal

Myasthenia gravis (MG) is a rare autoimmune disorder
characterised by fluctuating and variable combination
of muscle weakness and fatigue. Most cases are due to
T-cell mediated autoantibodies against post-synaptic
acetylcholine receptors (AChR-Ab), thus preventing
acetylcholine from binding and signalling skeletal
muscle to contract.1
The annual incidence is 7-23 new cases per million.1
It can occur at any age but with two peaks; an earlyonset
(20-40 years) female-predominant and a late-onset
(60-80 years) male-predominant peak. MG is classified
into ocular and generalised (80%). More than half the
patients initially present with ptosis and diplopia but half
will progress to generalised disease with involvement of
bulbar, limb and respiratory weakness. Those presenting
as generalised MG can also develop eye signs later.1
It is important to recognise MG early because it is
highly treatable. Untreated disease leads to permanent
weakness.2 Treatment reduces mortality from lifethreatening
myasthenic crisis.1,3 Misdiagnosis leads to
potentially harmful interventions and inappropriate
management.4,5 Diagnosis in late-onset MG is easily
missed2,3,4,5 because of overlapping symptoms with
other diseases common in the elderly. We report a case
of delay and misdiagnosis in an elderly patient with
co-morbidities. (Copied from article).

Matched MeSH terms: Blepharoptosis

Fulltext Combination of Pyridoxine and Thiamine Treatment in Bilateral Induced Ptosis in a Child: Case Report and Review of Literature

Chai KS, Norsarwany M, Shatriah I

Cureus, 2017 Aug 16;9(8):e1573.

PMID: 29057185 DOI: 10.7759/cureus.1573

Ptosis is a rare side effect of vincristine chemotherapy in patients treated for cancer. We report a case of a child with common B-cell acute lymphoblastic leukemia who developed bilateral moderate ptosis following the chemotherapy protocol of the United Kingdom Acute Lymphoblastic Leukemia (ALL) regimen A. The patient showed dramatic clinical improvement after a combination of oral pyridoxine and thiamine treatment. We provide a literature review of this uncommon presentation.

Matched MeSH terms: Blepharoptosis

Mitochondrial abnormalities in oculopharyngeal muscular dystrophy

Wong KT, Dick D, Anderson JR

Neuromuscul Disord, 1996 May;6(3):163-6.

PMID: 8784803

This report describes a 56-yr-old man with a dominantly inherited disorder affecting four generations and characterized by bilateral ptosis and dysphagia. Muscle biopsy showed only minor light microscopic abnormalities but electron microscopy revealed fibres containing paracrystalline mitochondrial inclusions. Southern analysis of mitochondrial DNA obtained from muscle did not reveal mitochondrial gene deletions. An extensive search eventually identified the characteristic intranuclear filaments of oculopharyngeal muscular dystrophy (OPMD). Abnormal mitochondria are non-specific epiphenomena in OPMD but a potential source of confusion with a late-onset mitochondrial cytopathy. This case further emphasizes the necessity for a diligent search for the diagnostic intranuclear filaments when oculopharyngeal muscular dystrophy is suspected clinically.

Matched MeSH terms: Blepharoptosis/genetics

Fulltext An association of myasthenia gravis with Hashimoto's thyroiditis in a patient with a multinodular goitre

Mohamed N, Mohd Zin F, Mohd Yusoff SS

Malays Fam Physician, 2017;12(2):29-31.

PMID: 29423128

Introduction: The association of myasthenia gravis (MG) with other autoimmune diseases including autoimmune thyroid disease (ATD) is well recognised, although rare. The occurrence of both diseases can occur in two ways: either disease preceding the other, or concurrently. The presentation of MG in association with ATD can range from ocular to generalised disease.

Case Summary: A 26-year-old Malay female with persistent hyperthyroidism secondary to Hashimoto's thyroiditis in multinodular goitre was diagnosed with generalised MG after 2 years. She presented with right eye ptosis (ocular) and difficulty in swallowing and chewing (bulbar). The diagnosis of MG was confirmed by fatigability testing, electromyography and the presence of AChR antibodies. Her symptoms showed improvement with pyridostigmine (Mestinon) 60 mg 6-hourly. Her antithyroid drug was tapered down according to her thyroid function test. Throughout a year of follow-ups, her hyperthyroidism and fatigability symptoms improved with treatment. She was later counselled for total thyroidectomy and thymectomy.

Conclusion: Myasthenia gravis and hyperthyroidism may present with similar symptoms such as dysphagia due to neuromuscular weakness or fatigue. When the diseases occur together, one of the diagnoses may be missed. Therefore, the occurrence of new symptoms in a patient with underlying ATD should should trigger the early identification of other autoimmune diseases by primary care doctors.

Matched MeSH terms: Blepharoptosis

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