Balan Louis Gaspar

The significance of Sarcina in routine surgical pathology practice

Sarcina was first described by Goodsir. The appearance of this bacterium is so characteristic that the diagnosis can be made on light microscopy. Although the original description of Sarcina was made more than 150 years ago, little is known about its role in various human diseases. This study was undertaken with the aim to analyze critically the reason for this sudden recent interest in human Sarcina infection. The results indicate that Sarcina is a histopathological marker of functional or anatomical causes of gastric stasis, and has a possible association with life‐threatening emphysematous gastritis. Hence, its documentation in the final report is warranted as the patient might need further work‐up.

The Diagnostic Dilemma of Neurolymphomatosis.

Neurolymphomatosis (NL) defined as infiltration of the central nervous system or the peripheral nervous system (PNS) by malignant lymphoma cells is a rare clinical entity. However, the increasing use of fluorodeoxyglucose positron-emission tomography (FDG-PET) and magnetic resonance imaging in evaluating PNS disorders is resulting in; this condition being recognized more frequently. Here; we report five NL patients and review the current literature. We report five patients with non-Hodgkins lymphoma (NHL) and NL, all of whom were men aged 47–69 years. The clinical presentation varied from symmetrical peripheral neuropathy to mononeuropathy. Peripheral neuropathy was the presenting manifestation of a systemic lymphoma in two patients (40%). Neuroimaging as well as whole-body FDG-PET helped in determining the correct diagnosis in all of the patients. NL is an unusual presentation of NHL resulting from infiltration of the PNS by malignant lymphomatous cells. While evaluating peripheral neuropathy, a high degree of suspicion of NL is required since the presenting symptoms vary, conventional radiology has only modest sensitivity, and a pathological diagnosis is often difficult. FDG-PET helps in the early diagnosis and treatment of this condition.

Primary giant cell tumor of the female breast: a diagnostic red herring with therapeutic implications

Primary giant cell tumor of the female breast is extremely rare. Major diagnostic difficulty is encountered not only by the surgeon but also by the radiologist and pathologist. Pathologically, it is similar to the bone and soft tissue counterparts. However, this is not always true. We describe a patient presenting clinically as cystosarcoma phyllodes and histopathological examination revealed a primary giant cell tumor which was confirmed by immunohistochemistry and electron microscopy. Interestingly, an intimate relationship between the mononuclear component of the tumor cells with eosinophils and mast cells was observed electron microscopically.

Gallbladder tuberculosis camouflaging as gallbladder cancer – case series and review focussing on treatment

Introduction: Gallbladder tuberculosis, in an endemic region, is a common infectious etiology affecting a rare organ. The high prevalence of carcinoma gallbladder in the endemic regions of tuberculosis, like India, poses diagnostic dilemma. Case series: We are reporting three cases of gallbladder tuberculosis mimicking carcinoma gallbladder of which the first two cases were operated with a presumptive diagnosis of malignancy. The third case presented to us after laparoscopic cholecystectomy elsewhere and on evaluation was found to have disseminated tuberculosis. Discussion: The lack of pathognomonic clinical and radiological characters results in histological surprise of gallbladder tuberculosis following surgery performed for other indications like malignancy. In preoperatively diagnosed patients medical management plays pivotal role in management. Surgery is required in symptomatic patients. On the other hand, histologically proven cases following surgical resection require antitubercular therapy. Conclusion: Previous history of tuberculosis or concomitant tuberculosis at other sites may provide clue to the diagnosis of biliary tuberculosis. Antitubercular treatment after surgery plays an important role in preventing further dissemination.

Gangliocytic Paraganglioma With Atypical Immunohistochemical Features Presenting as Extrahepatic Biliary Obstruction

Gangliocytic paraganglioma is a rare benign tumor of upper gastrointestinal tract that most commonly involves the second part of duodenum. The tumor is detected incidentally on imaging in most of the cases. However, presentation with extrahepatic biliary obstruction is extremely rare. We recently encountered a 50-year-old male patient who was evaluated for extrahepatic biliary obstruction and was found to have a periampullary mass on imaging. The patient underwent pylorus-preserving pancreaticoduodenectomy along with liver biopsy and hepatoduodenal lymph node dissection. On histopathological examination, a tumor was detected in the periampullary region of duodenum, which was confirmed to be gangliocytic paraganglioma on immunohistochemistry along with atypical histological and immunohistochemical features.

A Pathologist’s Expectation from the Clinician

Unlike most of the subspecialties of histopathology, myopathology demands a lot of information from the clinician in order to arrive at a specific diagnosis. Muscle biopsy being a sophisticated investigation needs complete clinical information supplemented by electrophysiological studies, imaging especially magnetic resonance imaging (MRI), and biochemical investigations before proceeding with interpreting a muscle biopsy. A myopathologist who attempts to report a muscle biopsy in the absence of the aforementioned vital information is at risk of committing a serious error. The muscle biopsy requisition form should contain all the essential information and at the same time needs to be concise. It is extremely important for the clinician to take a few minutes from their busy schedule to fill in the requisition form because the interpretation of the muscle biopsy is likely to change with the information provided. This becomes more important, especially for referral biopsies. The essential information include demographic profile, date and time of the biopsy, any deviation from the standard protocol in sending the biopsy, brief significant clinical history, pedigree chart, salient and pertinent examination findings, electrophysiological studies, biochemical investigations, imaging, and possible diagnosis or differential diagnosis [1–8].

Introduction to Normal Skeletal Muscle: Anatomy, Physiology, Histology, and Ultrastructure

The word “muscle” is derived from the Latin word musculus meaning “little mouse.” Skeletal muscle constitutes ~30–45% of the total body mass in an average adult and ~25% in a neonate. The skeletal muscle mass is influenced by various factors such as the genetic makeup of the individual, physical activity, nutrition, hormones, and associated comorbidities [1]. About 50–75% of the total body protein mass is made up of skeletal muscle, thereby making it the primary site for amino acid metabolism [2]. In human beings, rhabdomyogenesis starts at around 3 weeks of intrauterine life immediately following gastrulation initiated by the formation of the primitive streak [3]. The epiblasts migrate on either side of the primitive streak giving rise to paraxial mesoderm. The paraxial mesoderm develops further to form a pair of somitomeres [4]. Except for the first seven somitomeres, the rest undergo segmentation giving rise to block-shaped structures called somites. As the somites form, primitive streak simultaneously involutes. The entire sequence of events is referred to as somitogenesis [5].

Antenatal Diagnosis of Neuromuscular Disorders

The use of antenatal tests for routine screening of neuromuscular disorders is currently not recommended due to insufficient validated data justifying the merits and demerits. Currently, screening of neuromuscular disorders is done in research settings and on an individual case when a genetic etiology is suspected for which a confirmatory genetic diagnosis can be obtained more quickly and accurately by appropriate techniques. In the latter scenario, the patients are worked-up under the guidance of expert geneticists who form the core of a multidisciplinary team of experts. Genetic causes of neuromuscular disorders represent significant morbidity and mortality in patients, affected family members, and the public healthcare system [1]. Although recent clinical trials show promising results, current treatment strategies primarily are aimed at supportive care, rehabilitation, and delay the complications. Hence, genetic counseling and prenatal testing are the need of the hour for families at risk and in sporadic cases where imaging abnormalities are detected during antenatal screening.

Metabolic Myopathies and Related Diseases

The term “metabolism” has its origin from the Greek word metaballen which means “change.” It is the process of transformation (change) of chemical compounds (metabolites) in the body by virtue of tightly regulated chemical reactions (pathways) to sustain life. Metabolic myopathies (MM) refer to a set of muscle disorders caused by impairment in the metabolism of substrates to energy producing adenosine triphosphate (ATP) via oxidative phosphorylation (Fig. 12.1) [1]. They can be broadly categorized into glycogen storage diseases (GSD), fatty acid oxidation defects (FAOD), and mitochondrial disorders. Mitochondrial myopathies by themselves form a diverse group and hence are discussed separately (Chap. 10). The gamut of metabolic myopathies is broad ranging from infantile to adult-onset isolated myopathies or multisystem involvement. Hence, the diagnosis is often challenging. However, distinct clinicopathological features help in the recognition of these rare diseases. In this chapter, we will be discussing the normal metabolic pathways and the defects involving the carbohydrate and lipid metabolism, clinical features, laboratory investigations, and myopathological features.

Myopathology: Common Terminologies Illustrated

The purpose of this chapter is to make the reader familiar with the terminologies that are commonly used in myopathology. The common data element (CDE) standards have recently been developed for muscle biopsy reporting [1]. This is to ensure that the myopathologists worldwide speak the same language and avoid controversies in the diagnosis, classification, patient management, clinical trial stratification, and research.