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Amyotrophic lateral sclerosis (ALS) is a rare, progressive neurodegenerative disease, part of the spectrum of motor neuron diseases. This disease is divided on the bases of heritability, with majority of the cases being sporadic and phenotype, with eight recognized patterns-each with its respective symptoms, rate of progression, and prognosis. Here, we report a case of sporadic, bulbar-onset ALS, unique in its presentation as our patient had fully progressed bulbar symptoms, at the age of 28 years-where other cases of bulbar ALS are associated with much older ages and have a predisposition for the female gender. His prominent and elaborate tongue fasciculations going all the way down to the neck and rendering him incapable of holding his tongue out made for an additional reason of our special interest in the case and the keenness to report it.

Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic condition in children. The treatment of JIA is mainly by drug therapy, which includes non-steroidal anti-inflammatory drugs (NSAIDs), corticosteroids, and disease-modifying antirheumatic drugs (DMARDs). Sulfasalazine is a DMARD that is used as the second-line of therapy. Although believed to have an effective and safe profile, it has side effects ranging from mild gastrointestinal discomfort to hematopoietic alterations. In this study, we present a case of JIA with sulfasalazine-induced bone marrow suppression in a five-year-old child, which is rarely reported within the pediatric age group across the literature.

Charcot-Marie-Tooth (CMT) disease, also referred to as hereditary motor and sensory neuropathy (HMSN), is a heterogeneous group of disorders which primarily affects the peripheral nervous system. Clinically, the main features are progressive muscle weakness seen distally, along with wasting seen predominantly in the anterior compartments of the lower legs. The disease can broadly be classified into two groups, CMT1 and CMT2-based on inheritance patterns, paired with anatomical or electrophysiological findings. It can be inherited in the autosomal dominant, X-linked and rarely, the autosomal recessive fashions. Here, we present an unusual case of autosomal recessive CMT disease, in four out of six children of unaffected parents in a family.

Langerhans cell histiocytosis (LCH) is a rare, clonal disease of the monocyte-macrophage system, varying in its clinical presentation from mere self-healing skin and bone lesions to life-threatening multi-system disease. In descending order of frequency, the disease is known to involve the skeleton, skin, lymph nodes and lesser often, the liver, spleen, lungs, hematopoietic and central nervous systems. Here, we present a pediatric case of multi-system LCH in a five-year-old child, unique in its evident cardiac and renal involvement alongside other organ systems and important in how the diagnosis was aided by a fine needle aspiration cytology instead of the costlier histopathological procedures, in a setting with limited resources.

Adult onset Still's disease (AOSD) is a rare clinical entity with unknown etiology, characterized by arthritis, fever, erythematous rash, and other systemic presentations. We report a case of a 21-year-old male who presented with high spiking fever, dry cough, generalized body ache, arthralgia, and an erythematous rash. He was eventually diagnosed to have AOSD based on the Yamaguchi criteria, after a month of visiting three different healthcare facilities and receiving two misdiagnoses and treatment regimes not specific to his diagnosis. The patient immediately responded to prednisoloneand was healthy upon discharge.

Background The prevalence of colorectal cancer (CRC) is growing in Pakistan; however, there are no national screening programs or guidelines in place to curb its development. This study was conducted with the aim of ascertaining public awareness and attitudes regarding CRC and current screening practices. Furthermore, the study assessed perceived barriers which could impact future screening processes. Methods A cross-sectional, questionnaire-based study was conducted among urban dwellers of Karachi, Pakistan. We excluded any individuals belonging to the medical profession, those diagnosed previously with CRC or having any significant co-morbidity. The validated and pre-tested questionnaire was administered among the study participants to record demographic information, awareness of CRC risk factors, symptoms and screening tests. Attitudes towards screening and perceived barriers to screening were also assessed. Data were analyzed using Statistical Package for Social Sciences (SPSS version 20.0) (IBM Corp., Armonk, NY). A knowledge score, out of a total of 14 points was calculated to reflect a participant’s overall knowledge regarding CRC risk factors and signs/symptoms. Results The prevalence of CRC screening in eligible individuals (50 years or older) was 2.6% in our study population. Positive attitudes towards CRC management and screening were observed, with 75.1% (n = 296) acknowledging the preventive role of screening tests. Despite this only 14.9% (n = 58) of study participants expressed a future desire to undergo screening. Major barriers to screening were reported to be “a lack of knowledge regarding the screening procedure”, a “lack of screening facilities” and that the “screening procedure is too expensive”. A majority (n = 285, 72.3%) of the participants expressed a greater willingness to undergo screening if their doctor recommended it. Conclusion A national CRC screening and awareness program should be launched to promote awareness and facilitate screening in risk groups. General practitioners are needed to play a key role in counseling patients and endorsing healthy screening practices.