Displaying publications 1 - 20 of 45 in total

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  1. Lim TH, Wai YZ, Chong JC
    J Med Case Rep, 2021 May 12;15(1):267.
    PMID: 33980269 DOI: 10.1186/s13256-021-02826-1
    BACKGROUND: Frosted branch angiitis (FBA) is an uncommon ocular sign with multiple causes. With the recent outbreak of coronavirus disease 2019 (COVID-19), many cases of ocular manifestation in association with this disease have been reported. However, as yet we have no complete understanding of this condition. We report here the first case of FBA in a human immunodeficiency virus-infected patient with coexisting cytomegalovirus (CMV) and COVID-19 infection.

    CASE PRESENTATION: A 33-year-old Malay man with underlying acquired immunodeficiency syndrome receiving highly active antiretroviral therapy was referred to the Opthalmology Department with complaints of blurry vision for the past 2 months. He had tested positive for and been diagnosed with COVID-19 1 month previously. Clinical examination of the fundus revealed extensive perivascular sheathing of both the artery and vein suggestive of FBA in the right eye. Laboratory testing of nasal swabs for COVID-19 polymerase chain reaction (PCR) and serum CMV antibody were positive. The patient was then admitted to the COVID-19 ward and treated with intravenous ganciclovir.

    CONCLUSION: Clinicians should be aware of and take the necessary standard precautions for possible coexistence of COVID-19 in an immunocompromised patient presenting with blurred vision, eye redness, dry eye and foreign body sensation despite the absence of clinical features suggestive of COVID-19. Whether FBA is one of the ocular signs of co-infection of COVID-19 and CMV remains unknown. Further studies are needed to provide more information on ocular signs presented in patients with concurrent COVID-19 and CMV infections.

  2. Ahmad R, Abdullah K, Mokhtar L, Fadzil A
    J Med Case Rep, 2009;3:105.
    PMID: 19946583 DOI: 10.1186/1752-1947-3-105
    Tracheal agenesis is a very rare congenital airway anomaly. It may pose a great challenge to the first attending physician both in diagnosis and in establishing the airway during the first day of life.
  3. Ismail A, Ahid F, Thong MK, Zakaria Z
    J Med Case Rep, 2023 Jun 10;17(1):250.
    PMID: 37296475 DOI: 10.1186/s13256-023-03984-0
    BACKGROUND: The 18q- deletion syndrome is a rare congenital chromosomal disorder caused by a partial deletion of the long arm of chromosome 18. The diagnosis of a patient with this syndrome relies on the family medical history, physical examination, developmental assessment, and cytogenetic findings. However, the phenotype of patients with 18q- deletion syndrome can be highly variable, ranging from almost normal to severe malformations and intellectual disability, and normal cytogenetic findings are common, thus complicating the diagnosis. Interestingly, only few characteristic features of typical 18q- deletion syndrome were found in the patient, despite sharing the same critical region. To our knowledge, this is the first report of a Malaysian individual with 18q- terminal microdeletion diagnosed with microarray-based technology.

    CASE PRESENTATION: Here we report a 16-year-old Malaysian Chinese boy, a product of a non-consanguineous marriage, who presented with intellectual disability, facial dysmorphism, high arched palate, congenital talipes equinovarus (clubfoot), congenital scoliosis, congenital heart defect, and behavioral problems. A routine chromosome analysis on 20 metaphase cells showed a normal 46, XY G-banded karyotype. Array-based comparative genomic hybridization was performed using a commercially available 244 K 60-mer oligonucleotide microarray slide according to the manufacturer's protocol. This platform allows genome-wide survey and molecular profiling of genomic aberrations with an average resolution of about 10 kB. In addition, multiplex ligation-dependent probe amplification analysis was carried out using SALSA MLPA kit P320 Telomere-13 to confirm the array-based comparative genomic hybridization finding. Array-based comparative genomic hybridization analysis revealed a 7.3 MB terminal deletion involving chromosome band 18q22.3-qter. This finding was confirmed by multiplex ligation-dependent probe amplification, where a deletion of ten probes mapping to the 18q22.3-q23 region was detected, and further multiplex ligation-dependent probe amplification analysis on his parents showed the deletion to be de novo.

    CONCLUSION: The findings from this study expand the phenotypic spectrum of the 18q- deletion syndrome by presenting a variation of typical 18q- deletion syndrome features to the literature. In addition, this case report demonstrated the ability of the molecular karyotyping method, such as array-based comparative genomic hybridization, to assist in the diagnosis of cases with a highly variable phenotype and variable aberrations, such as 18q- deletion syndrome.

  4. Ameli F, Ghafourian F, Masir N
    J Med Case Rep, 2014;8:288.
    PMID: 25163591 DOI: 10.1186/1752-1947-8-288
    Systemic Epstein-Barr virus-positive T-cell lymphoproliferative childhood disease is an extremely rare disorder and classically arises following primary acute or chronic active Epstein-Barr virus infection. It is characterized by clonal proliferation of Epstein-Barr virus-infected T-cells with an activated cytotoxic phenotype. This disease has a rapid clinical course and is more frequent in Asia and South America, with relatively few cases being reported in Western countries. The clinical and pathological features of the disease overlap with other conditions including infectious mononucleosis, chronic active Epstein-Barr virus infection, hemophagocytic lymphohistiocytosis and natural killer cell malignancies. We describe the rare case of systemic Epstein-Barr virus-positive T-cell lymphoproliferative childhood disease in a 16-year-old Malay boy.
  5. Nyanti L, Samsudin A, Tiong IK
    J Med Case Rep, 2019 Jun 21;13(1):188.
    PMID: 31221202 DOI: 10.1186/s13256-019-2122-8
    BACKGROUND: Leser-Trélat syndrome, which manifests as eruptive multiple seborrheic keratoses, is a rare paraneoplastic sign. Hyponatremia in the elderly population is an often overlooked but potentially sinister biochemical abnormality. Cancer-related causes of hyponatremia include syndrome of inappropriate antidiuretic hormone secretion, cerebral or renal salt wasting, and adrenal dysfunction. We report a case of an elderly man who presented with both syndrome of inappropriate antidiuretic hormone secretion and Leser-Trélat syndrome, and was eventually found to have renal malignancy.

    CASE PRESENTATION: A 74-year-old indigenous Malaysian man with underlying chronic kidney disease presented with recurrent admissions for hyponatremia with parameters indicative of syndrome of inappropriate antidiuretic hormone secretion, constitutional symptoms, and diffuse skin lesions suggestive of multiple seborrheic keratoses. A radiological workup revealed metastatic renal cell carcinoma with evidence of metastasis to the brain, adrenal glands, bone, and lungs.

    CONCLUSIONS: To the best of our knowledge, renal malignancy presenting as syndrome of inappropriate antidiuretic hormone secretion and Leser-Trélat concurrently is rare. The causes of hyponatremia in the elderly, approach to investigation, and value as a poor prognostic marker in malignancy are highlighted. We also discuss Leser-Trélat syndrome, its pathophysiology, and its possible implications on clinical practice.

  6. Siow SL, Tee SC, Wong CM
    J Med Case Rep, 2015;9:49.
    PMID: 25890166 DOI: 10.1186/s13256-015-0519-6
    Paraesophageal hernia with intrathoracic mesentericoaxial type of gastric volvulus is a rare clinical entity. The rotation occurs because of the idiopathic relaxation of the gastric ligaments and ascent of the stomach adjacent to the oesophagus through the hiatus defect, while the gastroesophageal junction remains in the abdomen. The open approach remains the gold standard therapy for most patients. Here we report the case of a patient with such a condition who underwent a successful laparoscopic surgery. A literature search revealed that this is the first case report from Southeast Asia.
  7. Siow SL, Wong CM, Hardin M, Sohail M
    J Med Case Rep, 2016 Jan 18;10:11.
    PMID: 26781191 DOI: 10.1186/s13256-015-0780-8
    Traumatic diaphragmatic rupture and traumatic abdominal wall hernia are two well-described but rare clinical entities associated with blunt thoracoabdominal injuries. To the best of our knowledge, the combination of these two clinical entities as a result of a motor vehicle accident has not been previously reported.
  8. Yii ESS, Azli AW, Sitaram PN
    J Med Case Rep, 2022 Jan 04;16(1):17.
    PMID: 34983625 DOI: 10.1186/s13256-021-03232-3
    BACKGROUND: Sodium-glucose cotransporter 2 inhibitors are among the new-generation oral antihyperglycemic agents that have been used in the treatment of type 2 diabetes mellitus. With the recent coronavirus disease 2019 pandemic and rise of cases in the third wave, diagnosis of life-threatening euglycemic diabetic ketoacidosis may easily be overlooked or missed.

    CASE PRESENTATION: We present the case of a 37-year-old Malay gentleman with underlying type 2 diabetes mellitus on empagliflozin, who presented to our hospital with symptomatic coronavirus disease 2019 infection and diabetic ketoacidosis. He developed severe rebound euglycemic diabetic ketoacidosis due to the continuous usage of empagliflozin for glycemic control alongside intravenous insulin.

    CONCLUSIONS: Physicians should have a high index of suspicion in diagnosing and managing euglycemic diabetic ketoacidosis, including withholding treatment of sodium-glucose cotransporter 2 inhibitors during the acute management of diabetic ketoacidosis.

  9. Al-Shaham AA, Sood S
    J Med Case Rep, 2010 Jun 29;4:196.
    PMID: 20584337 DOI: 10.1186/1752-1947-4-196
    INTRODUCTION: Isolated lymphedema of the penis is extremely rare: combined involvement of the scrotum and penis is the norm. Furunculosis as a cause is not, to our knowledge, previously reported. We present a case of isolated penile lymphedema that responded to excision of lymphedematous tissue and reconstruction with flaps.

    CASE PRESENTATION: A 32-year-old Arab man presented with a three-year history of a gradually increasing, painless penile swelling. Our patient's main complaint was non-erectile sexual dysfunction. The swelling was preceded by at least three prior episodes of severe furunculosis at the penile root. He had no other contributory past medical or family history. On examination there was gross penile enlargement, maximally at the mid shaft, associated with thickened skin at the sites of prior furunculosis. The glans and scrotum were normal. Both testes were palpable. Serology for filariasis, and urinary tract ultrasound and computed tomography scan were normal. The clinical diagnosis was lymphedema following recurrent penile furunculosis. At operation the lymphedematous tissues were removed. Closure of the penile shaft was accomplished by bilateral advancement of flaps from both ends of the penis. He resumed normal sexual activity one month after surgery. At 12 months, he had a good cosmetic result, with no signs of recurrence.

    CONCLUSIONS: Furunculosis at the penile root may result in lymphedema confined to the penile shaft, sparing the scrotum. Excision of abnormal tissue and cover with a skin flap gave excellent cosmetic results, and allowed satisfactory sexual activity.

  10. Kamil W, Al Bayati L, Hussin AS, Hassan H
    J Med Case Rep, 2015;9:211.
    PMID: 26404671 DOI: 10.1186/s13256-015-0677-6
    Aggressive periodontitis is characterized by a rapid rate of attachment loss and bone resorption. Regenerative therapy offers reconstruction of the periodontium; however, certain advanced cases with a questionable prognosis might remain a challenge. We report a successful intervention outcome of a challenging case in the aesthetic zone of a patient with aggressive periodontitis.
  11. Nor-Masniwati S, Azhany Y, Zunaina E
    J Med Case Rep, 2011;5:338.
    PMID: 21806816 DOI: 10.1186/1752-1947-5-338
    Purtscher's retinopathy is a rare condition that is noted in cases related to various types of trauma. The characteristic finding in the fundus is the presence of multiple Purtscher flecken. Purtscher-like retinopathy has a similar presentation in the fundus, but without an association with trauma.
  12. Kasinathan G, Kori AN, Azmie NM
    J Med Case Rep, 2019 Jul 22;13(1):223.
    PMID: 31327318 DOI: 10.1186/s13256-019-2164-y
    INTRODUCTION: Post-transplant lymphoproliferative disorder is a serious disorder which occurs post hematopoietic stem cell transplant or solid organ transplantation. T-prolymphocytic leukemia is a T cell type monomorphic post-transplant lymphoproliferative disorder which accounts for only 2% of all mature lymphocytic leukemias in adults over the age of 30.

    CASE PRESENTATION: A 59-year-old man of Chinese ethnicity presented to our hematology unit with headache, lethargy, and exertional dyspnea for the past 1 month. He underwent an uneventful cadaveric renal transplant 20 years ago for chronic glomerulonephritis-induced end-stage renal disease. He had been on long-term immunosuppressants since then consisting of orally administered prednisolone 10 mg daily and orally administered cyclosporine A 50 mg twice daily. On examination, he was pale with a palpable liver and spleen. He had a functioning renal graft. Marrow flow cytometry confirmed T-prolymphocytic leukemia with lymphocytes expressing CD2, CD3, CD7, CD52, and TCL-1. His human T-cell lymphotropic virus and Epstein-Barr virus serology and deoxyribonucleic acid (DNA) were negative. He was treated with one cycle of cyclophosphamide, doxorubicin, vincristine, and prednisone chemotherapy to which he failed to respond. In view of his renal allograft, he was not suitable for alemtuzumab due to the risk of nephrotoxicity. He was given orally administered venetoclax but he died on day 17 due to severe auto tumor lysis syndrome.

    CONCLUSION: The place of immunophenotyping in the diagnosis and treatment of this disorder is of significant importance. More research needs to be carried out to further comprehend the pathophysiology and treatment modalities for this disorder.

  13. Nik-Ahmad-Zuky NL, Seoparjoo A, Husna EIE
    J Med Case Rep, 2021 Sep 08;15(1):448.
    PMID: 34493340 DOI: 10.1186/s13256-021-03030-x
    BACKGROUND: Placenta accreta is known to be associated with significant maternal morbidity and mortality-primarily due to intractable bleeding during abortion or delivery at any level of gestation. The complications could be reduced if placenta accreta is suspected in a patient with a history of previous cesarean delivery and the gestational sac/placenta is located at the lower part of the uterus. Then, a proper management plan can be instituted, and complications can be reduced. The diagnosis of placenta accreta in the first trimester of pregnancy is considered uncommon.

    CASE PRESENTATION: A 34-year-old Malay, gravida 4, para 3, rhesus-negative woman was referred from a private hospital at 13 weeks owing to accreta suspicion for further management. She has a history of three previous lower-segment cesarean sections. She also had per vaginal bleeding in the early first trimester, which is considered to indicate threatened miscarriage. Transabdominal ultrasound revealed features consistent with placenta accreta spectrum. She was counseled for open laparotomy and hysterectomy because of potential major complication if she continued with the pregnancy. Histopathological examination revealed placenta increta.

    CONCLUSION: A high index of suspicion of placenta previa accreta must be in practice in a patient with a history of previous cesarean deliveries and low-lying placenta upon ultrasound examination during early gestation.

  14. Pang NTP, Masiran R, Alimuddin AS
    J Med Case Rep, 2023 Feb 13;17(1):46.
    PMID: 36775819 DOI: 10.1186/s13256-023-03774-8
    BACKGROUND: Paraphilias are recurrent and arousing fantasies, thoughts, and behaviors that cause distress to sufferers and surrounding people. This case report details the challenge of managing multiple paraphilias with compulsive sexual behavior.

    CASE PRESENTATION: A 48-year-old Malay man presented with compulsive sexual behavior, encompassing voyeuristic, frotteurism, and exhibitionistic behavior, increasing progressively over the years, with accompanying overvalued ideas of erotomania. Despite the high level of dysfunction occupationally and socially, there were no apparent psychotic, manic, or depressive symptoms. An organic workup was unremarkable, and he was diagnosed with multiple paraphilias. Treatment with selective serotonin reuptake inhibitors was commenced, and psychologically he was managed with techniques specific to compulsive sexual behavior.

    CONCLUSION: Though rare in the literature, both paraphilic disorders and compulsive sexual behaviors are very distressing to sufferers and their families alike, and thorough biopsychological investigations are essential to ensure reversible causes are not overlooked.

  15. Lim LL, Kitan N, Paramasivam SS, Ratnasingam J, Ibrahim L, Chan SP, et al.
    J Med Case Rep, 2015;9:277.
    PMID: 26619967 DOI: 10.1186/s13256-015-0757-7
    Determining the etiology of Cushing's syndrome is very challenging to endocrinologists, with most of the difficulty arising from subtype differentiation of adrenocorticotropic hormone-dependent Cushing's syndrome. We present the pitfalls of evaluating a rare cause of adrenocorticotropic hormone-independent Cushing's syndrome in the transition period between adolescence and adulthood.
  16. Engku-Husna EI, Nik-Ahmad-Zuky NL, Muhammad-Nashriq K
    J Med Case Rep, 2020 Nov 02;14(1):209.
    PMID: 33131504 DOI: 10.1186/s13256-020-02506-6
    BACKGROUND: Müllerian duct anomaly is a rare condition. Many cases remain unidentified, especially if asymptomatic. Thus, it is difficult to determine the actual incidence. Müllerian duct anomaly is associated with a wide range of gynecological and obstetric complications, namely infertility, endometriosis, urinary tract anomalies, and preterm delivery. Furthermore, congenital anomalies in pregnant mothers have a high risk of being genetically transmitted to their offspring.

    CASE PRESENTATION: We report a case of a patient with unsuspected müllerian duct anomaly in a term pregnancy. A 33-year-old Malay woman with previously uninvestigated involuntary primary infertility for 4 years presented with acute right pyelonephritis in labor at 38 weeks of gestation. She has had multiple congenital anomalies since birth and had undergone numerous surgeries during childhood. Her range of congenital defects included hydrocephalus, for which she was put on a ventriculoperitoneal shunt; imperforated anus; and tracheoesophageal fistula with a history of multiples surgeries. In addition, she had a shorter right lower limb length with limping gait. Her physical examination revealed a transverse scar at the right hypochondrium and multiple scars at the posterior thoracic region, levels T10-T12. Abdominal palpation revealed a term size uterus that was deviated to the left, with a singleton fetus in a nonengaged cephalic presentation. The cervical os was closed, but stricture bands were present on the vagina from the upper third until the fornices posteriorly. She also had multiple rectal prolapses and strictures over the rectum due to previous anorectoplasty. An emergency cesarean delivery was performed in view of the history of anorectoplasty, vaginal stricture, and infertility. Intraoperative findings showed a left unicornuate uterus with a communicating right rudimentary horn.

    CONCLUSION: Most cases of müllerian duct anomaly remain undiagnosed due to the lack of clinical suspicion and the absence of pathognomonic clinical and radiological characteristics. Because it is associated with a wide range of gynecological and obstetric complications, it is vital for healthcare providers to be aware of its existence and the role of antenatal radiological investigations in its diagnosis. The presence of multiple congenital abnormalities and a history of infertility in a pregnant woman should warrant the exclusion of müllerian duct anomalies from the beginning. Early detection of müllerian duct anomalies can facilitate an appropriate delivery plan and improve the general obstetric outcome.

  17. Atuk FA, Basuni JBM
    J Med Case Rep, 2018 May 21;12(1):140.
    PMID: 29779493 DOI: 10.1186/s13256-018-1689-9
    BACKGROUND: While gestational trophoblastic disease is not rare, hydatidiform mole with a coexistent live fetus is a very rare condition occurring in 0.005 to 0.01% of all pregnancies. As a result of the rarity of this condition, diagnosis, management, and monitoring will remain challenging especially in places with limited resources and expertise. The case we report is an interesting rare case which presented with well-described complications; only a few similar cases have been described to date.

    CASE PRESENTATION: We report a case of a 21-year-old local Sarawakian woman with partial molar pregnancy who presented with severe pre-eclampsia in which the baby was morphologically normal, delivered prematurely, and there was a single large placenta showing molar changes.

    CONCLUSION: Even though the incidence of this condition is very rare, recognizing and diagnosing it is very important for patient care and it should be considered and looked for in patients presenting with pre-eclampsia.

  18. Zakaria NF, Ahmad NI, Mokhtar E, Zukiman WZHHW, Shah AM
    J Med Case Rep, 2021 Jul 30;15(1):420.
    PMID: 34325745 DOI: 10.1186/s13256-021-02895-2
    BACKGROUND: Patients who undergo peritoneal dialysis (PD) are at risk of gut bacteria translocation leading to peritonitis when there is chronic diarrhea. Chronic diarrhea is defined as any course of diarrhea that lasts at least 4 weeks, which can be continuous or intermittent. Chronic diarrhea of any duration may cause dehydration, electrolyte imbalance, and life-threatening hypovolemic shock. In PD patients, excessive ultrafiltration from the exchanges, combined with severe gastrointestinal loss, may cause hypovolemic shock, electrolyte imbalance, and metabolic acidosis. There are multiple causes of chronic diarrhea in PD patients including infective causes, mitotic lesions, and rarely the regular and excessive use of laxatives, which is a diagnosis of exclusion.

    CASE PRESENTATION: We report a case of Melanau lady with chronic diarrhea secondary to laxative usage in a patient being treated with automated peritoneal dialysis (APD). The patient went into hypovolemic shock, but luckily did not contract peritonitis. A colonoscopy revealed brown to black discoloration of the colon, a feature suggestive of melanosis coli. A biopsy of the intestine further confirmed the diagnosis by histopathological examination. Withdrawal of laxatives and the introduction of probiotics improved the symptoms tremendously.

    CONCLUSIONS: The chronic use of laxatives in PD patients can potentially lead to a devastating problem; thus, the management team must monitor treatment commencement appropriately.

  19. Imran FH, Karim R, Maat NH
    J Med Case Rep, 2016;10(1):120.
    PMID: 27170287 DOI: 10.1186/s13256-016-0918-3
    Successful wound healing depends on various factors, including exudate control, prevention of microbial contaminants, and moisture balance. We report two cases of managing burn wounds with SMARTPORE Technology polyurethane foam dressing.
  20. Omar R, Idris SS, Meng CK, Knight VF
    J Med Case Rep, 2012;6:316.
    PMID: 22992390
    A number of vision defects have been reported in association with albinism, such as photophobia, nystagmus and astigmatism. In many cases only prescription sunglasses are prescribed. In this report, the effectiveness of low-vision rehabilitation in albinism, which included prescription of multiple visual aids, is discussed.
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