MyMedR

Hypoechoic liver in fetuses with trisomy 21

Omar PM, Lim WT, Ting YH, Lao TT, Law KM, Cheung AHK, et al.

J Matern Fetal Neonatal Med, 2019 Oct;32(19):3315-3317.

PMID: 29631451 DOI: 10.1080/14767058.2018.1459556

The association between hypoechoic hepatomegaly in the third trimester and transient abnormal myelopoiesis (TAM) was reported previously in six fetuses with trisomy 21 (T21). We report a series of three cases of T21 in which hypoechoic liver (HL) was found in the second trimester but without evidence of TAM on both hematological and histological examination. We postulate that the hypo-echogenicity may be due to liver congestion secondary to hemodynamic disturbances seen in T21 fetuses. All three cases had negative first trimester Down syndrome screening and one case was detected solely because of the isolated finding of HL. HL per se may be associated with T21 and more positive cases are required to support this association.

Matched MeSH terms: Abnormalities, Multiple/diagnosis; Down Syndrome/diagnosis*; Hepatomegaly/diagnosis*; Splenomegaly/diagnosis

Microcytic to hypochromic ratio as a discriminant index of thalassaemia trait in subjects with hypochromic anaemia

Wee SY, Muhamed Said SS, Raja Sabudin RZA, Alauddin H, Ithnin A

Malays J Pathol, 2020 Aug;42(2):195-201.

PMID: 32860371

INTRODUCTION: Differentiating between thalassaemia and iron deficiency anaemia (IDA) in hypochromic anaemia is a challenge to pathologists as it influences the choice of subsequent specialized confirmatory tests. In this study, we aimed to evaluate the performance of microcytic to hypochromic ratio (MicroR/ Hypo-He, M/H ratio) as a discriminant index in hypochromic anaemia.

MATERIALS AND METHODS: A retrospective study was carried out on 318 subjects with hypochromic anaemia, which comprised 162 IDA and 156 thalassaemia trait subjects with α-thalassemia, β-thalassemia and HbE trait. Optimal cut-off value, sensitivity and specificity of M/H ratio for thalassaemia trait discrimination was determined using Receiver Operating Characteristic (ROC) analysis.

RESULTS: Subjects with thalassaemia trait showed higher MicroR compared to IDA ( p< 0.001) while subjects with IDA demonstrated higher Hypo-He than thalassaemia trait (p < 0.001). M/H ratio was significantly higher in thalassaemia trait compared to IDA, with medians of 3.77 (interquartile range: 2.57 - 6.52) and 1.73 (interquartile range: 1.27 - 2.38), respectively (p < 0.001). M/H ratio ≥ 2.25 was the optimal cut-off value for discriminating thalassaemia trait from IDA in hypochromic anaemia, with the area under ROC curve (AUC) of 0.83, sensitivity of 80.8% and specificity of 71.6%.

CONCLUSIONS: M/H ratio is a useful discriminant index to distinguish thalassaemia trait from IDA in hypochromic anaemia prior to diagnostic analysis for thalassaemia confirmation. High M/H ratio is suggestive of thalassaemia trait than of IDA. However, more studies are required to establish the role of M/H ratio as a screening tool for thalassaemia discrimination in hypochromic anaemia.

Matched MeSH terms: Diagnosis, Differential; alpha-Thalassemia/diagnosis; beta-Thalassemia/diagnosis; Anemia, Iron-Deficiency/diagnosis

A systematic review and meta-analysis of immunohistochemical biomarkers that differentiate chromophobe renal cell carcinoma from renal oncocytoma

Ng KL, Morais C, Bernard A, Saunders N, Samaratunga H, Gobe G, et al.

J Clin Pathol, 2016 Aug;69(8):661-71.

PMID: 26951082 DOI: 10.1136/jclinpath-2015-203585

Numerous immunohistochemical (IHC) biomarkers have been employed to aid in the difficult differentiation between chromophobe renal cell carcinoma (chRCC) and renal oncocytoma (RO). A systematic review and meta-analysis of the published literature was carried out to summarise and analyse the evidence for discriminatory IHC biomarkers to differentiate the two entities.

Matched MeSH terms: Carcinoma, Renal Cell/diagnosis*; Diagnosis, Differential; Kidney Neoplasms/diagnosis*; Adenoma, Oxyphilic/diagnosis*

Fulltext Gastric duplication cyst with a red flag presentation: a case report

Alagoo D, Sellappan H, Jayasilan J, Azizan N, Hayati F

Pan Afr Med J, 2021;39:141.

PMID: 34527157 DOI: 10.11604/pamj.2021.39.141.29895

Gastric duplication cyst (GDC) is a rare congenital malformation of the gastrointestinal (GI) tract. Despite being benign in the entity, its complications vary from an asymptomatic abdominal mass to fulminant or massive GI bleeding. A 28-year-old lady presented with unexplained GI haemorrhage, in which the upper endoscopy showed a classic feature of GI stromal tumour. The preoperative diagnosis was also confirmed by the computed tomography. She subsequently underwent surgical resection and the final histopathology was consistent with a benign entity of GDC.

Matched MeSH terms: Cysts/diagnosis*; Gastrointestinal Neoplasms/diagnosis; Gastrointestinal Hemorrhage/diagnosis; Gastrointestinal Stromal Tumors/diagnosis

Pulmonary actinomycosis masquerading as aspergilloma

Rosdina Z, Nurul Yaqeen ME, Hanafiah M, Nor Salmah B

Med J Malaysia, 2017 04;72(2):147-149.

PMID: 28473686 MyJurnal

We report a case of a 34-year-old man who was initially treated as community acquired pneumonia following a three-month-history of productive cough, loss of weight and loss of appetite. However, three months after discharged from the hospital, he presented again with worsening respiratory symptoms and radiological evidence of a lung cavitation with intracavitary lesion resembling an aspergilloma associated with surrounding consolidation. Unfortunately, he remained symptomatic despite on antifungal therapy. The repeat computed-tomography demonstrated persistent cavitating lesion with development of necrotising pneumonia. He underwent lobectomy and the histopathological analysis of the resected specimen however revealed the diagnosis of actinomycosis.

Matched MeSH terms: Actinomycosis/diagnosis*; Diagnosis, Differential; Lung Diseases/diagnosis*; Pulmonary Aspergillosis/diagnosis*

Mucinous cystadenoma, serous cystadenoma and benign cystic teratoma of the ovary: clinico-pathologic differences observed in a Malaysian hospital

Ong HC, Chan WF

Cancer, 1978 Apr;41(4):1538-42.

PMID: 639009

A study of 207 benign ovarian tumors seen at the University Hospital, Kuala Lumpur between 1968 and 1975 was made to evaluate the clinical features that might be useful in the preoperative differentiation of mucinous cystadenoma, serous cystadenoma, and cystic teratoma of the ovary. This study indicated that the pertinent information included the mean age of the patient, the marital and menstrual status, and the estimated tumor size. The racial background was an additional factor in serous cystadenoma. Features like parity, the location of the tumor, and ABO blood group pattern were of no value in the preoperative differentiation.

Matched MeSH terms: Cystadenoma/diagnosis*; Dermoid Cyst/diagnosis*; Diagnosis, Differential; Ovarian Neoplasms/diagnosis*

Ocular myasthenia gravis and idiopathic orbital inflammatory disease: double the trouble!

Sharudin SN, Govindasamy G, Mohamad NF, Kanesalingam R, Vasudevan SK

Can J Ophthalmol, 2018 04;53(2):e55-e58.

PMID: 29631841 DOI: 10.1016/j.jcjo.2017.07.024

Matched MeSH terms: Diagnosis, Differential; Inflammation/diagnosis; Myasthenia Gravis/diagnosis*; Orbital Diseases/diagnosis

Fulltext Spinal cryptoccoma mimicking a spinal cord tumor complicated by cryptococcal meningitis in an immunocompetent patient

Carol L, Tai MS, Yusoff SM, Rose N, Rafia MH, Viswanathan S

Neurol India, 2018 7 25;66(4):1181-1183.

PMID: 30038119 DOI: 10.4103/0028-3886.237012

Matched MeSH terms: Cryptococcosis/diagnosis*; Diagnosis, Differential; Spinal Cord Diseases/diagnosis*; Spinal Cord Neoplasms/diagnosis

Diagnostic conundrum of a perineal tumour: a rectal gastrointestinal stromal tumour mimic

Shi R, Chew MH, Leow WQ

Malays J Pathol, 2017 Dec;39(3):293-296.

PMID: 29279593

Gastrointestinal stromal tumour (GIST) is a common mesenchymal tumour arising in the gastrointestinal tract, but not frequently encountered in the rectum. Herein, we describe a case of a rectal GIST which mimicked histomorphological features of a schwannoma; thus, making intraoperative frozen section evaluation challenging. Although subsequent immunohistochemistry and molecular findings readily confirmed the diagnosis of a GIST, we wish to draw attention to three clues that will help the pathologist steer clear of this potential diagnostic pitfall. One, GISTs are relatively more common than schwannomas in the rectum. Two, schwannomas usually have very little mitoses. Three, rectal GISTs commonly exhibit nuclear palisades. We also discuss the diagnostic, prognostic and therapeutic functions of immunohistochemical and molecular investigations. As the surgical intent for rectal GISTs is for en-bloc excision with wide margins, we surmise that the intraoperative consult should include GIST as a possible differential diagnosis for rectal mesenchymal tumours. In view of the potential for neoadjuvant treatment with imatinib before surgical excision to preserve sphincter function, a multidisciplinary approach is recommended for establishing most effective treatment strategy in these rare complex cases.

Matched MeSH terms: Diagnosis, Differential; Neurilemmoma/diagnosis*; Rectal Neoplasms/diagnosis*; Gastrointestinal Stromal Tumors/diagnosis*

Fulltext Overlap of Bickerstaff brainstem encephalitis/Guillain-Barré syndrome simulating brain death

Tan CY, Ahmad SB, Goh KJ, Latif LA, Shahrizaila N

Neurol India, 2018 9 21;66(5):1475-1480.

PMID: 30233023 DOI: 10.4103/0028-3886.241342

Matched MeSH terms: Brain Death/diagnosis*; Diagnosis, Differential; Encephalitis/diagnosis*; Guillain-Barre Syndrome/diagnosis*

Postpartum obsessive-compulsive symptoms in a case of peripartum-onset depression and infanticide

Lee KKS, Yahya B

Asian J Psychiatr, 2019 Jan;39:10-11.

PMID: 30466055 DOI: 10.1016/j.ajp.2018.11.004

Matched MeSH terms: Depressive Disorder, Major/diagnosis*; Obsessive-Compulsive Disorder/diagnosis*; Pregnancy Complications/diagnosis*; Puerperal Disorders/diagnosis

Melanonychia striata: clarifying behind the Black Curtain. A review on clinical evaluation and management of the 21st century

Leung AKC, Lam JM, Leong KF, Sergi CM

Int J Dermatol, 2019 Nov;58(11):1239-1245.

PMID: 31006857 DOI: 10.1111/ijd.14464

Melanonychia striata is characterized by a tan, brown, or black longitudinal streak within the nail plate that runs from the proximal nail fold to the distal part of the nail plate. Melanonychia striata is due to increased activity of melanocytes or melanocytic hyperplasia in the nail matrix with subsequently increased melanin deposition in the nail plate. The most common cause of melanonychia striata associated with melanocytic activation is ethnic melanonychia which occurs in dark-skinned individuals. Other causes of melanonychia striata related to melanocytic activation include pregnancy, chronic local trauma, infections, medications, dermatological disorders, endocrine disorders, alkaptonuria, hemochromatosis, porphyria, graft-vs-host disease, Peutz-Jeghers syndrome, and Laugier-Hunziker syndrome. Causes of melanonychia striata associated with melanocytic hyperplasia include nail matrix melanocytic nevus, nail lentigo, and nail apparatus/subungual in situ and invasive melanoma. In most cases, melanonychia striata is a benign condition, especially in children. Consequently, most investigators advocate a wait-and-see approach. Nail apparatus/subungual melanoma should be suspected if there is an abrupt onset after middle age, personal or family history of melanoma, rapid growth, darkening of a melanonychia band, pigment variegation, blurry lateral borders, irregular elevation of the surface, a bandwidth >3 mm, proximal widening, associated nail plate dystrophy, single rather than multiple digit involvement, and periungual spread of pigmentation onto the adjacent cuticle and/or proximal and/or lateral nail folds (Hutchinson sign). Prolonged follow-up is mandatory for early detection of possible malignant changes.

Matched MeSH terms: Diagnosis, Differential; Hematoma/diagnosis; Nail Diseases/diagnosis*; Pigmentation Disorders/diagnosis*

It's not just a heartburn and reflux disease: a case report of distal oesophageal spasm and review of literature

Nawawi KNM, Wong Z, Ngiu CS, Raja Ali RA

Med J Malaysia, 2019 12;74(6):540-542.

PMID: 31929483

Distal oesophageal spasm is a rare condition that affects the motility of the oesophagus. It can be diagnosed by highresolution oesophageal manometry and the diagnosis is supported by other modalities such as barium swallow and esophagogastroduodenoscopy examinations. Treatment options include pharmacological therapy, endoscopy and surgical interventions. We described a case of distal oesophageal spasm in an elderly patient who presented with chronic dyspepsia.

Matched MeSH terms: Diagnosis, Differential; Gastroesophageal Reflux/diagnosis*; Heartburn/diagnosis*; Esophageal Spasm, Diffuse/diagnosis*

Acute Intermittent Porphyria: A rare cause of hyponatraemia

Zainuddin NM, Sthaneshwar P, Vethakkan SRDB

Malays J Pathol, 2019 Dec;41(3):369-372.

PMID: 31901925

INTRODUCTION: Hyponatraemia is one of the most frequent laboratory findings in hospitalised patients. We present an unusual case of hyponatraemia in a 23-year-old female secondary to acute intermittent porphyria (AIP), a rare inborn error of metabolism.

CASE REPORT: The patient presented with upper respiratory tract infection, fever, seizures and abdominal pain. An initial diagnosis of encephalitis was made. In view of the unexplained abdominal pain with other clinical findings such as posterior reversible encephalopathy syndrome by CT brain, temporary blindness as well as hyponatraemia, acute intermittent porphyria was suspected. Urine delta aminolaevulinic acid (δ-ALA) and porphobilinogen were elevated confirming the diagnosis of AIP. Genetic studies were done for this patient. The patient had a complete resolution of her symptoms with carbohydrate loading and high caloric diet.

CONCLUSION: Although rare, AIP should be considered as a cause of hyponatraemia in a patient who presents with signs and/or symptoms that are characteristic of this disease.

Matched MeSH terms: Hyponatremia/diagnosis; Abdominal Pain/diagnosis; Porphyria, Acute Intermittent/diagnosis; Posterior Leukoencephalopathy Syndrome/diagnosis

Atypical case of diffuse idiopathic skeletal hyperostosis mimicking ankylosing spondylitis in a young woman with polycystic ovary syndrome

Ong SG, Ding HJ

Med J Malaysia, 2019 12;74(6):558-560.

PMID: 31929491

Both diffuse idiopathic skeletal hyperostosis and ankylosing spondylitis present with similar clinical manifestations of restricted spinal mobility and postural abnormalities, and radiographic resemblances including axial spine involvement and enthesopathy. Nonetheless, they are two entirely different diseases. We report an unusual case of DISH in a young woman whose diagnosis was established based on radiologic features. This case report aims to highlight the under-recognised radiologic aspects of the differential diagnosis between DISH and AS in order to avoid an inaccurate diagnosis.

Matched MeSH terms: Diagnosis, Differential; Hyperostosis, Diffuse Idiopathic Skeletal/diagnosis*; Polycystic Ovary Syndrome/diagnosis; Spondylitis, Ankylosing/diagnosis*

Cystic pheochromocytoma mimicking a malignant pancreatic cyst

Lee J, Raman K, Sachithanandan S

Gastrointest Endosc, 2011 Sep;74(3):712-3.

PMID: 21111418 DOI: 10.1016/j.gie.2010.09.027

Matched MeSH terms: Adrenal Gland Neoplasms/diagnosis*; Diagnosis, Differential; Pancreatic Cyst/diagnosis*; Pheochromocytoma/diagnosis*

Pancreatic hemangioma mimicking a malignant pancreatic cyst

Lee J, Raman K, Sachithanandan S

Gastrointest Endosc, 2011 Jan;73(1):174-6.

PMID: 20932519 DOI: 10.1016/j.gie.2010.07.038

Matched MeSH terms: Diagnosis, Differential; Hemangioma/diagnosis*; Pancreatic Cyst/diagnosis*; Pancreatic Neoplasms/diagnosis*

Pulmonary actinomycosis masquerading as lung cancer: A case report

Boo YL, How KN, Pereira DS, Chin PW, Foong KK, Lim SY

Med J Malaysia, 2017 08;72(4):246-247.

PMID: 28889138 MyJurnal

Pulmonary actinomycosis is a rare yet important and challenging diagnosis to make. It is commonly confused with other lung diseases, such as tuberculosis and bronchogenic carcinoma, leading to delay diagnosis or misdiagnosis. A 49-year-old man presented with a chronic cough, hemoptysis, and pleuritic chest pain. His initial imaging studies including computed tomography (CT) was suggestive of bronchogenic carcinoma. A subsequent CTguided biopsy was consistent with pulmonary actinomycosis and excluded the possibility of bronchogenic carcinoma. He was treated with antibiotic therapy and achieved remission with complete radiological resolution upon follow-up.

Matched MeSH terms: Actinomycosis/diagnosis*; Diagnosis, Differential; Lung Diseases/diagnosis*; Lung Neoplasms/diagnosis*

Hepatopulmonary Syndrome and Portopulmonary Hypertension in Children: Recent Advances in Diagnosis and Management

Lee WS, Wong SY, Ivy DD, Sokol RJ

J Pediatr, 2018 05;196:14-21.e1.

PMID: 29514741 DOI: 10.1016/j.jpeds.2017.12.068

Matched MeSH terms: Hypertension, Portal/diagnosis*; Hypertension, Pulmonary/diagnosis*; Liver Cirrhosis/diagnosis; Hepatopulmonary Syndrome/diagnosis*

Monophasic synovial sarcoma of the pyriform fossa

Ng CT, Wong EHC, Prepageran N

BMJ Case Rep, 2020 Nov 30;13(11).

PMID: 33257363 DOI: 10.1136/bcr-2020-236204

Head and neck synovial sarcoma is rare. We report the case of a 71-year-old man who presented with progressive dysphagia, odynophagia, shortness of breath on exertion and hoarseness of voice. Nasendoscopy revealed a smooth, non-fungating, non-ulcerative mass arising from the left lateral pharyngeal wall. CT showed a well-defined, heterogenous enhancing lesion arising from the left pyriform fossa. Initial biopsy taken was inconclusive and patient underwent a transcervical complete excision of the tumour, where histopathological analysis confirmed the diagnosis of monophasic synovial sarcoma of the left pyriform fossa. This patient also received adjuvant radiotherapy postoperatively and remained disease free 1 year after completion of treatment.

Matched MeSH terms: Diagnosis, Differential; Head and Neck Neoplasms/diagnosis; Hypopharyngeal Neoplasms/diagnosis*; Sarcoma, Synovial/diagnosis*

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