ABSTRACT
Mucopolysaccharidoses (MPS) are a group of inherited metabolic disorders characterized by the deficiency or malfunction of lysosomal enzymes responsible for glycosaminoglycan (GAG) degradation. We present the case of an 11-year-old male with a history of calcified mitral valve, rheumatic heart disease, and growth hormone deficiency who presented with dyspnea on exertion. Physical examination revealed dysmorphic facial features, short stature, and suboptimal weight and height parameters. Magnetic resonance imaging (MRI) of the brain showed cystic lesions in the white matter and corpus callosum, hydrocephalus, and cerebral atrophy, suggestive of MPS. This case highlights the importance of considering MPS in the differential diagnosis of patients with multisystemic involvement and the utility of advanced imaging techniques like MRI in guiding diagnosis and management. A multidisciplinary approach involving cardiology, endocrinology, genetics, and neurology is crucial for comprehensive management and improving patient outcomes. Early diagnosis and intervention are essential in optimizing the quality of life for patients with MPS.
ABSTRACT
Organophosphorus poisoning (OPP) poses a significant threat to human health, necessitating accurate prognostic markers for timely intervention and improved outcomes. This review evaluates the potential of the neutrophil-to-lymphocyte ratio (NLR) as a prognostic indicator in acute organophosphorus poisoning (AOPP). A comprehensive analysis of existing literature reveals that elevated NLR values correlate with increased severity of poisoning and adverse clinical outcomes, including mortality and morbidity. NLR assessment offers valuable prognostic information beyond traditional markers, aiding risk stratification and guiding clinical decision-making. Integration of NLR into clinical practice holds promise for optimizing patient care through the early identification of high-risk individuals and tailored therapeutic interventions. Further research is needed to validate the utility of NLR in larger patient cohorts and standardize its incorporation into clinical guidelines. Leveraging NLR as a prognostic tool can enhance risk stratification, optimize treatment strategies, and ultimately improve outcomes in AOPP.
ABSTRACT
Central neurocytoma (CN) is a rare, low-grade, neuronal tumor frequently encountered in young adults. Complete surgical resection is the treatment of choice; however, it is associated with grave postoperative complications in a quarter of patients, including neurological (motor weakness, memory deficit, aphasia, and seizure) as well as regional (hydrocephalus, hematoma, infection, and subcutaneous hydrops) complications. Herein, we present a case of a 35-year-old female who presented with decreased vision for the last 7-8 days and headache over the last 1-1.5 years. An ophthalmologic examination suggested papilledema. Magnetic resonance imaging (MRI) of the brain illustrated a well-circumscribed, large, lobulated, altered signal intensity midline intraventricular lesion (72 × 68 mm) attached to the septum pellucidum near the foramen of Monro (FoM) most likely to be CN. The patient underwent complete surgical resection but required re-exploration the next day for hematoma removal due to intraventricular hemorrhage. Over the next 40 days, the patient developed hydrocephalus with transtentorial herniation and succumbed. Histopathological examination (HPE) was suggestive of CN and immunohistochemistry (IHC) was strongly positive for synaptophysin, thus confirming the diagnosis of CN.
ABSTRACT
Cerebellar hemispheric enlargement with atypical neurological symptoms poses diagnostic challenges in clinical practice. We present the case of a 57-year-old female with persistent headache, left facial paraesthesia, dysarthria, gait ataxia, and longstanding neck swelling. Imaging studies revealed enlargement of the left cerebellar hemisphere with associated mass effect and compression of adjacent structures. The underlying etiology remained uncertain despite extensive evaluation, including magnetic resonance imaging and angiography. Differential diagnoses included neoplastic, vascular, inflammatory, and metabolic etiologies, but none fully accounted for the clinical findings. Management strategies focused on symptomatic relief and close monitoring. This case underscores the complexity of diagnosing and managing patients with rare neurological manifestations and highlights the need for continued research and collaborative approaches in optimising patient care.
ABSTRACT
There has been a notable rise in instances of multiple-fetus pregnancies over the last decade, attributed to the widespread adoption of assisted reproductive technologies. Moreover, these pregnancies have been associated with the use of drugs to induce ovulation. While some cases involve the loss of one twin with minimal consequences for the surviving twin, the demise of a fetus after the first trimester, especially beyond three months into the pregnancy, can significantly impact the health of both the mother and the surviving fetus. Unfavorable outcomes linked to the loss of one twin after the first trimester include impaired physical growth of the surviving fetus, preterm delivery, neurological abnormalities, and, in certain instances, the death of the surviving twin. This report provides a detailed account of a specific case involving twin pregnancies where a single fetal death occurred at the 24th week of gestation, leading to severe pregnancy-induced hypertension and pulmonary edema. Upon reviewing peer-reviewed articles related to similar cases in online databases, no exact matches were identified for cases with a comparable presentation. The scarcity of literature on the development of pre-eclampsia following the death of a single fetus suggests a gap in obstetric research in this area. Consequently, the uniqueness of this case report arises from its distinctive circumstances and the limited existing literature on the subject within the obstetric community.
