ABSTRACT
Spindle cell rhabdomyosarcoma (SC-RMS) is an unprecedented version of embryonal rhabdomyosarcomas (RMSs) that emerges from the mesenchyme with the capacity to differentiate into skeletal muscle cells. Retroperitoneal RMS is extremely rare in the adult population. We present the case of a primary spindle cell retroperitoneal RMS with compression features. Investigation-based diagnosis of RMS is difficult due to the lack of specificity of clinical findings. Radiology does not help in making an accurate diagnosis. Surgical removal of the tumor followed by chemotherapy and radiotherapy is the best possible treatment for RMS in adults. SC-RMS has a poor long-term prognosis. To our knowledge, such cases of retroperitoneal SC-RMS compressing the abdominal viscera and resulting in hydroureteronephrosis have never been reported before.
ABSTRACT
The presentation of vitamin B12 deficiency varies from being asymptomatic to affecting multiple organ systems. In addition, several systemic diseases can be associated with generalized weakness and hyperpigmentation. However, vitamin B12 deficiency rarely presents with hyperpigmentation as an initial symptom. We present a rare case of a 22-year-old college student who presented with hyperpigmentation as the only physical manifestation of early vitamin B12 deficiency. This case underlines the need to rule out vitamin B12 deficiency when clinicians encounter hyperpigmentation as a solo presentation and also emphasizes the significance of early treatment in preventing the irreversible neurological manifestations of vitamin B12 deficiency.
ABSTRACT
OBJECTIVE: To study the clinical presentation, treatment, and outcome of Retinoblastoma (Rb) in a tertiary care hospital of Pakistan. METHODS: A retrospective study was conducted in the Department of Pediatric Hematology Oncology, The Indus Hospital (TIH), Karachi from 1st June 2013 to 30th June 2017. Data including patients' demography, clinical symptoms and duration, laterality, extent of the tumor, type of treatment, relapse, and final outcome were extracted and evaluated with respect to progression and survival. RESULTS: A total of 93 patients were included; 34.4% were boys. The median age at presentation was 30 months. Leukocoria was the commonest symptom (61.3%), followed by proptosis (37.6%). Unilateral disease was seen in 59.1%, extraocular tumors in 43.5% and metastasis in 28.1%. Enucleation was performed on 46.2%, chemotherapy given to 80.6% and external beam radiation therapy to 29.3% patients. CONCLUSION: Delayed presentation, recurrent disease, extraocular disease and metastasis on presentation were factors affecting outcome in our cohort. Awareness about the early warning signs and symptoms in both public and health professionals for early recognition and timely management are mandatory to decrease morbidity and mortality.
ABSTRACT
OBJECTIVE: To find the frequency of core binding factor acute myeloid leukaemia in our population, and to determine its association with morphological subtypes. METHODS: The retrospective study was conducted at The Indus Hospital, Karachi, and comprised data of patients aged 1-17 years who were diagnosed with acute myeloid leukaemia from July 2013 to June 2017. Data was analysed using SPSS 21. RESULTS: Of the 237 patients, 137(58%) were males and 100(42%) were females. The overall mean age was 8±4.34 years. Cytogenetic testing had been performed in 212(89.45%) cases, and core binding factor was detected in 72(34%) cases. There was significant difference between the mean values of white cell count and the subtypes (p=0.000). Also the difference between core binding factor and the subtypes was significant (p=0.000). CONCLUSIONS: There was found to be a significant association of core binging factor with specific subgroups of acute myeloid leukaemia.
