MyMedR

A Unique Interaction of IVS-I-1 (G>A) (HBA2: c.95+1G>A) with Hb Adana (HBA2: c.179G>A) Presenting as Transfusion-Dependent α-Thalassemia

Alauddin H, Kamarudin K, Loong TY, Azma RZ, Ithnin A, Jalil N, et al.

Hemoglobin, 2018 Jul;42(4):247-251.

PMID: 30623696 DOI: 10.1080/03630269.2018.1528985

Nondeletional α-globin mutations are known to cause more serious clinical effects than deletional ones. A rare IVS-I-1 (G>A) (HBA2: c.95+1G>A) donor splice site mutation interferes with normal splicing of pre mRNA and results in activation of a cryptic splice site as well as a frameshift mutation. Hb Adana [HBA2: c.179G>A (or HBA1)] is a highly unstable variant hemoglobin (Hb) resulting from a mutation at codon 59 on the HBA2 or HBA1 gene, recognized to cause severe α-thalassemia (α-thal) syndromes. We report a unique case of compound heterozygosity for these two mutations in a 9-year-old boy who presented with a Hb level of 5.3 g/dL and hepatomegaly at the age of 15 months. He required regular blood transfusions in view of a Hb level of <7.0 g/dL and failure to thrive. He had thalassemic red cell indices and peripheral blood film. The Hb electrophoresis only showed a raised Hb F level (3.3%) and a pre run peak but the Hb H inclusion test was negative. His father had thalassemic red cell indices but a normal Hb level. His mother had almost normal Hb levels and red cell indices. Hb Adana involving the HBA2 gene was detected by mutiplex amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) in the proband and his father. DNA sequencing of the HBA2 gene confirmed the IVS-I-1 mutation in the proband and his mother. This case highlighted the unique interaction of the IVS-I-1 mutation with Hb Adana in a young Malay boy presenting with transfusion-dependent α-thal.

Matched MeSH terms: Diagnosis, Differential

Hypereosinophilia responding to empirical antihelminthic treatment

Loh KY, Lee XE

Southeast Asian J Trop Med Public Health, 2010 Nov;41(6):1322-3.

PMID: 21329305

We report a 20-year-old college student presents with bilateral ankle edema associated with hypereosinophilia following a history of traveling in a rural area. Physical examinations and investigations failed to diagnose any underlying cause. She was treated with antihelminth medication and the edema subsided within a week and the eosinophil counts normalized within two weeks.

Matched MeSH terms: Diagnosis, Differential

Fulltext Tuberculosis or systemic lupus erythematosus? A diagnostic and therapeutic dilemma

Mohd A, Goh EM, Chow SK, Looi LM, Yeap SS

Southeast Asian J Trop Med Public Health, 2003 Jun;34(2):361-4.

PMID: 12971563

The diagnosis of patients with fever of unknown origin (FUO) is often problematic because the range of possible differential diagnoses is broad. We report on a case in which a patient presented with FUO and was subsequently found to have both a collagen vascular disease and an intercurrent infection. Treatment for the collagen vascular disease with corticosteroids exacerbated the intercurrent infection. The problems in the diagnosis and management of such cases are discussed.

Matched MeSH terms: Diagnosis, Differential

Cryptococcocis: a rare fungal infection of the tongue

Mohamad I, Abdullah B, Salim R, Rajet KA, Naik VR

Southeast Asian J Trop Med Public Health, 2010 Sep;41(5):1188-91.

PMID: 21073040

Fungal infection in the oral cavity is not uncommon. The site involved is usually species related. Cryptococcus rarely infects the oral cavity. We report an elderly patient who presented with a central lesion on the dorsum of the tongue. Biopsy revealed a fungal infection. Special stains confirmed cryptococcus. Being a rare location for cryptococcal infection, clinical suspicion should be correlated with histopathological examination. Once confirmed, the patient should be treated with an antifungal medication.

Matched MeSH terms: Diagnosis, Differential

Hairy-cell leukemia: a rare blood disorder in Asia

Josephine FP, Nissapatorn V

Southeast Asian J Trop Med Public Health, 2006;37 Suppl 3:190-4.

PMID: 17547079

We report a 68-year-old Indian man who was referred to the Hematology Unit for investigation for thrombocytopenia, an incidental finding during a pre-operative screening for prostatectomy. Physical examination was unremarkable. There was no splenomegaly, hepatomegaly or lymphadenopathy. Complete blood counts showed normal hemoglobin and total white cell count with moderate thrombocytopenia. Hairy-cell leukemia was diagnosed based on peripheral blood film, bone-marrow aspirate and trephine biopsy findings, supported by immunophenotyping results by flow cytometry. The purpose of this report is to create awareness of this uncommon presentation and to emphasize that a single-lineage cytopenia or absence of splenomegaly does not exclude the diagnosis of hairy-cell leukemia. Careful attention to morphological detail is important for early diagnosis, especially when low percentages of "hairy" cells are present in the peripheral blood and bone marrow. Early diagnosis is important to ensure that patients obtain maximum benefit from the newer therapeutic agents that have greatly improved the prognosis in this rare disorder.

Matched MeSH terms: Diagnosis, Differential

Near miss diagnosis of childhood tuberculosis

Norlijah O, Intan HI, Feizel AM, Kasim MS, Noh LM

Southeast Asian J Trop Med Public Health, 2006 Sep;37(5):953-7.

PMID: 17333739

Tuberculosis (TB) remains a public health problem in Malaysia. We describe three atypical cases of serious tuberculosis in children. The potential diagnostic pitfall in these cases is highlighted by its unusual presentation in a setting of culture-negative infection. A positive polymerase chain reaction (PCR) in each case assists in gauging the diagnosis in concordance with appropriate clinical findings.

Matched MeSH terms: Diagnosis, Differential

Oral histoplasmosis presenting as oral ulcer in a non-HIV patient

Rahman MT, Bakar NH, Philip R, Shamsudin AR

Southeast Asian J Trop Med Public Health, 2004 Jun;35(2):388-90.

PMID: 15691142

A 40-year-old man presented with chronic mouth ulcer for the last six months. Histopathological examination of the biopsy from the lesion confirmed a diagnosis of histoplasmosis. Although histoplasmosis commonly manifests in immunocompromized patients, like HIV, the present case was negative for HIV. Histoplasmosis is endemic in certain parts of the world and it is comparatively rare in the South Asian region, particularly Malaysia. Thirty-seven cases of histoplasmosis were reported from Malaysia (Ng and Siar, 1996), between July 1967 and October 1997. Despite the apparent rarity of the disease, clinicians and pathologists should be aware of the possibility of histoplasmosis when cases of oral ulcer are encountered.

Matched MeSH terms: Diagnosis, Differential

Non-ulcerative soft tissue mycosis of long duration mimicking soft tissue sarcoma--a case report

Omar E, Murugesan A, Bakar NH, Wan Z

Southeast Asian J Trop Med Public Health, 2005 Nov;36(6):1530-2.

PMID: 16610657

Soft tissue mycosis usually presents with a triad of tumefaction, suppuration and ulceration. We report an unusual case of soft tissue mycosis in a 42-year-old male teacher who presented with painless swelling over the anterolateral aspect of the right shin for 4 years duration.

Matched MeSH terms: Diagnosis, Differential

Fulltext The modified NCEP ATP III criteria maybe better than the IDF criteria in diagnosing Metabolic Syndrome among Malays in Kuala Lumpur

Moy FM, Bulgiba A

BMC Public Health, 2010 Nov 06;10:678.

PMID: 21054885 DOI: 10.1186/1471-2458-10-678

BACKGROUND: Metabolic Syndrome is associated with increased risk for type 2 diabetes and cardiovascular diseases. However, different diagnostic criteria have been recommended by different expert groups. In Malaysia, there is a lack of research comparing these different diagnostic criteria. Therefore, it is our aim to study the concordance between the IDF and the modified NCEP ATP III definitions of Metabolic Syndrome among a Malay cohort in Kuala Lumpur; and to demonstrate if all participants have the same cardiometabolic risks.

METHODS: This was an analytical cross sectional study. Ethics approval was obtained and informed consent was given by all participants. Anthropometric measurements, blood pressure, fasting blood glucose and lipid profile were taken following standard protocols.

RESULTS: Metabolic Syndrome was diagnosed in 41.4% and 38.2% participants using the modified NCEP and IDF criteria respectively. Among those diagnosed with Metabolic Syndrome by modified NCEP, 7.6% were missed by the IDF criteria. Participants diagnosed by the modified NCEP criteria had lower BMI and waist circumference but had higher cardiometabolic risks than those diagnosed with both criteria. Their blood pressure, glucose, total cholesterol and triglyceride were more adverse than the IDF group. This demonstrated that central obesity may not be a prerequisite for the development of increased cardiometabolic risks within this Malay cohort.

CONCLUSION: Metabolic syndrome is common in this Malay cohort regardless of the criterion used. The modified NCEP ATP III criteria may be more suitable in diagnosis of metabolic syndrome for this Malay cohort.

Matched MeSH terms: Diagnosis, Differential

Fulltext When all else fails: supervised treatment in outpatient for schizophrenia (STOPS)

Tan HJR

BMJ Case Rep, 2017 Sep 23;2017.

PMID: 28942410 DOI: 10.1136/bcr-2017-221518

This was about a case of a patient requiring admission to psychiatry ward twice a year for relapse schizophrenia due to medication non-compliance. Medication adherence was previously monitored by her husband. However, following the death of her husband, she stopped treatment. The lack of insight and poor family support further contributed to her relapse. She presented with positive and negative symptoms of schizophrenia during her relapse, neglecting her hygiene and oral intake. She was also found to have anaemia as a result of poor diet when she was in relapse. Community psychiatry services had attempted to ensure compliance with postdischarge plan but failed as patient was not present every home visits. Supervised treatment in outpatient for schizophrenia (STOPS) provided an alternative method to ensure compliance in this patient. Patient has remained in remission for 1 year since the use of STOPS.

Matched MeSH terms: Diagnosis, Differential

Disseminated melioidosis in two cats

O'Brien CR, Krockenberger MB, Martin P, Parkes H, Kidd M, Malik R

J Feline Med Surg, 2003 Apr;5(2):83-9.

PMID: 12670433

Melioidosis was diagnosed in two cats at necropsy. The first cat presented with jaundice and anaemia but died of overwhelming sepsis soon after admission, despite blood transfusion and other supportive measures. The second cat died several days after developing neurological signs; an infected digital wound may have been the primary focus of infection in this patient. The cats had presumably acquired the infection in Malaysia and northern Australia, respectively, and in both cases disease may have represented reactivation of a latent infection brought on by the stress of relocation. The epidemiology, clinical presentation, diagnosis and treatment of melioidosis are discussed from a feline perspective.

Matched MeSH terms: Diagnosis, Differential

Diagnostic Evaluation of Technetium-99 metastable TRODAT-1 Single Photon Emission Computed Tomography-Computed Tomography in the Differential Diagnosis of Parkinsonism in Hospital Kuala Lumpur: A preliminary experience

Kamarulzaman K, Abd Razak N, Mawardi AS, Amir Hassan SZ

Med J Malaysia, 2024 Nov;79(6):690-702.

PMID: 39614786

INTRODUCTION: Parkinsonian syndrome encompasses a group of movement disorders characterized by symptoms such as tremor, rigidity, bradykinesia, and postural instability. While Idiopathic Parkinson's disease is the most common cause, several other etiologies can also result in parkinsonism. Identifying the specific type of Parkinsonian syndrome is essential due to its varying therapeutic and prognostic implications. This study aims to evaluate the role of Technetium-99 metastable TRODAT-1 Single Photon Emission Computed Tomography-Computed Tomography (Tc-99m TRODAT-1 SPECT-CT) in patients with parkinsonism.

MATERIALS AND METHODS: The clinical data and scintigraphy findings of patients referred to the Department of Nuclear Medicine, Hospital Kuala Lumpur for Tc-99m TRODAT-1 SPECT-CT from July 2022 to July 2023 were retrospectively reviewed. Follow-up with primary team was conducted to determine the clinical implications and subsequent therapeutic management of the patients.

RESULTS: Tc-99m TRODAT-1 SPECT-CT was performed on sixteen patients (10 females and 6 males) with a mean age of 55.2 years (range 26 to 75 years). Five patients exhibited normal scintigraphy findings, while eleven patients showed abnormal Tc-99m TRODAT-1 SPECT-CT results. The scintigraphy findings led to changes in therapeutic management for 81.3% of the patients. Additionally, 19% of the patients were referred for further evaluation with Fluorine-18 fluorodeoxyglucose PET to assist in diagnosing atypical Parkinsonian disease.

CONCLUSIONS: Tc-99m TRODAT-1 SPECT-CT is a readily available tool for assessing presynaptic dopamine transporters in patients with parkinsonism. This study demonstrated that Tc-99m TRODAT-1 SPECT-CT significantly impacts the diagnostic and therapeutic outcomes for patients with parkinsonism.

Matched MeSH terms: Diagnosis, Differential

Fulltext Radiogenomics Pilot Study: Association Between Radiomics and Single Nucleotide Polymorphism-Based Microarray Copy Number Variation in Diagnosing Renal Oncocytoma and Chromophobe Renal Cell Carcinoma

Alhussaini AJ, Veluchamy A, Jawli A, Kernohan N, Tang B, Palmer CNA, et al.

Int J Mol Sci, 2024 Nov 21;25(23).

PMID: 39684226 DOI: 10.3390/ijms252312512

RO and ChRCC are kidney tumours with overlapping characteristics, making differentiation between them challenging. The objective of this research is to create a radiogenomics map by correlating radiomic features to molecular phenotypes in ChRCC and RO, using resection as the gold standard. Fourteen patients (6 RO and 8 ChRCC) were included in the prospective study. A total of 1,875 radiomic features were extracted from CT scans, alongside 632 cytobands containing 16,303 genes from the genomic data. Feature selection algorithms applied to the radiomic features resulted in 13 key features. From the genomic data, 24 cytobands highly correlated with histology were selected and cross-correlated with the radiomic features. The analysis identified four radiomic features that were strongly associated with seven genomic features. These findings demonstrate the potential of integrating radiomic and genomic data to enhance the differential diagnosis of RO and ChRCC, paving the way for more precise and non-invasive diagnostic tools in clinical practice.

Matched MeSH terms: Diagnosis, Differential

Fulltext Avoiding diagnostic pitfalls in mimics of neoplasia: the importance of a comprehensive diagnostic approach

Samsudin EZ, Kamarul T, Mansor A

Singapore Med J, 2015 May;56(5):e92-5.

PMID: 26034328 DOI: 10.11622/smedj.2015082

Any medical diagnosis should take a multimodal approach, especially those involving tumour-like conditions, as entities that mimic neoplasms have overlapping features and may present detrimental outcomes if they are underdiagnosed. These case reports present diagnostic pitfalls resulting from overdependence on a single diagnostic parameter for three musculoskeletal neoplasm mimics: brown tumour (BT) that was mistaken for giant cell tumour (GCT), methicillin-resistant Staphylococcus aureus osteomyelitis mistaken for osteosarcoma and a pseudoaneurysm mistaken for a soft tissue sarcoma. Literature reviews revealed five reports of BT simulating GCT, four reports of osteomyelitis mimicking osteosarcoma and five reports of a pseudoaneurysm imitating a soft tissue sarcoma. Our findings highlight the therapeutic dilemmas that arise with musculoskeletal mimics, as well as the importance of thorough investigation to distinguish mimickers from true neoplasms.

Matched MeSH terms: Diagnosis, Differential*

SPTAN1 encephalopathy: distinct phenotypes and genotypes

Tohyama J, Nakashima M, Nabatame S, Gaik-Siew C, Miyata R, Rener-Primec Z, et al.

J Hum Genet, 2015 Apr;60(4):167-73.

PMID: 25631096 DOI: 10.1038/jhg.2015.5

Recent progress in genetic analysis reveals that a significant proportion of cryptogenic epileptic encephalopathies are single-gene disorders. Mutations in numerous genes for early-onset epileptic encephalopathies have been rapidly identified, including in SPTAN1, which encodes α-II spectrin. The aim of this review is to delineate SPTAN1 encephalopathy as a distinct clinical syndrome. To date, a total of seven epileptic patients with four different in-frame SPTAN1 mutations have been identified. The major clinical features of SPTAN1 mutations include epileptic encephalopathy with hypsarrhythmia, no visual attention, acquired microcephaly, spastic quadriplegia and severe intellectual disability. Brainstem and cerebellar atrophy and cerebral hypomyelination, as observed by magnetic resonance imaging, are specific hallmarks of this condition. A milder variant is characterized by generalized epilepsy with pontocerebellar atrophy. Only in-frame SPTAN1 mutations in the last two spectrin repeats in the C-terminal region lead to dominant negative effects and these specific phenotypes. The last two spectrin repeats are required for α/β spectrin heterodimer associations and the mutations can alter heterodimer formation between the two spectrins. From these data we suggest that SPTAN1 encephalopathy is a distinct clinical syndrome owing to specific SPTAN1 mutations. It is important that this syndrome is recognized by pediatric neurologists to enable proper diagnostic work-up for patients.

Matched MeSH terms: Diagnosis, Differential

Endobronchial glomus tumor

Rashid Ali MR, Kannan KK

J Bronchology Interv Pulmonol, 2015 Jan;22(1):66-8.

PMID: 25590487 DOI: 10.1097/LBR.0000000000000128

We report a case of a 52-year-old patient who had undergone a bladder resection and an ileal conduit for a transitional cell carcinoma. He then presented with a short history of hemoptysis 3 months later. Rigid bronchoscopy was performed revealing an endobronchial lesion, which was removed via laser and debulking method without complications. Histopathologic examination confirmed it to be a benign endobronchial glomus tumor. On the basis of our literature search, this is the 34th reported case of glomus tumor arising from the respiratory tract, seventh reported case of an endobronchial glomus tumor treated bronchoscopically, and the first possibly coincidental finding in relation to a patient with primary transitional bladder cell carcinoma.

Matched MeSH terms: Diagnosis, Differential

Fulltext Overcoming the barriers to diagnosis of Morquio A syndrome

Bhattacharya K, Balasubramaniam S, Choy YS, Fietz M, Fu A, Jin DK, et al.

Orphanet J Rare Dis, 2014;9:192.

PMID: 25433535 DOI: 10.1186/s13023-014-0192-7

Morquio A syndrome is an autosomal recessive lysosomal storage disease often resulting in life-threatening complications. Early recognition and proficient diagnosis is imperative to facilitate prompt treatment and prevention of clinical complications.

Matched MeSH terms: Diagnosis, Differential

Fulltext Distinguishing benign from malignant pelvic mass utilizing an algorithm with HE4, menopausal status, and ultrasound findings

Wilailak S, Chan KK, Chen CA, Nam JH, Ochiai K, Aw TC, et al.

J Gynecol Oncol, 2015 Jan;26(1):46-53.

PMID: 25310857 DOI: 10.3802/jgo.2015.26.1.46

The purpose of this study was to develop a risk prediction score for distinguishing benign ovarian mass from malignant tumors using CA-125, human epididymis protein 4 (HE4), ultrasound findings, and menopausal status. The risk prediction score was compared to the risk of malignancy index and risk of ovarian malignancy algorithm (ROMA).

Matched MeSH terms: Diagnosis, Differential

Fulltext Oral hyperpigmented lesions--a case study

Kwa SK, Gupta ED

Aust Fam Physician, 2013 Jul;42(7):490-1.

PMID: 23826603

An overweight woman, aged 58 years, presented for follow up of hypertension, diabetes and dyslipidaemia. She was noted to have hyperpigmented brown macules on the inner surface of the lower lip and buccal mucosa (Figure 1). She stated that she had first noticed these lesions when aged in her 40s. Her mother died at age 58 years from gastric cancer with extensive metastases, and her brother died at age 45 years from colon cancer with spread to the liver and lungs.

Matched MeSH terms: Diagnosis, Differential

Fulltext Is it toxoplasma encephalitis, HIV encephalopathy or brain tuberculoma?

Nimir AR, Osman E, Ibrahim IA, Saliem AM

BMJ Case Rep, 2013;2013.

PMID: 23580678 DOI: 10.1136/bcr-2013-008803

A 31-year-old Malaysian man was presented with an episode of seizures by the roadside, after having been recently diagnosed as HIV positive accompanied with miliary tuberculosis. On physical examination, he was oriented to person, but not to time or place. There was no neck stiffness or papilloedema. The other systemic examination was unremarkable. Chest examination revealed crepitations at the upper zone of the right lung. After diagnosis suspicion, the case was confirmed as toxoplasma encephalitis by MRI and serological tests. Patient was treated with trimethoprim/sulfamethoxazole 480-2400 mg/day with folinic acid supplement for 60 days. Two months later, a repeat brain MRI showed resolution of the cerebral lesions.

Matched MeSH terms: Diagnosis, Differential

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