RESUMEN
Congenital facial teratomas in neonates pose diagnostic challenges, necessitating a multidisciplinary approach for accurate diagnosis and management. We present the case of a four-day-old female infant delivered via Lower Segment Cesarean Section (LSCS) with a protruding nasolabial mass noted since birth. CT brain plain revealed a soft tissue density opacification arising from the left maxilla with an underlying bony outgrowth, suggestive of a benign congenital developmental anomaly most likely teratoma. Further evaluation is warranted to delineate the exact nature and extent of the anomaly. This case underscores the importance of meticulous evaluation and interdisciplinary collaboration in managing congenital anomalies, with surgical intervention potentially required based on individual patient factors. Continued research and collaboration among medical specialities are essential to improve understanding and management strategies for congenital facial teratomas.
RESUMEN
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.
RESUMEN
This case report presents the clinical and radiological findings of a seven-year-old female with type 2 diastematomyelia and spina bifida, emphasizing the complexity of congenital spinal anomalies in pediatric patients. The patient presented with a two-month history of lower back pain, prompting diagnostic investigations. Radiographic examination revealed spina bifida at the L3-L5 levels, subsequently confirmed by magnetic resonance imaging (MRI), which disclosed bifid spinous processes, an absent posterior arch, and a split spinal cord terminating at the L3-L4 disc levels. The Vancouver classification system facilitated a standardized characterization of congenital spinal anomalies. The multidisciplinary approach involving orthopedic and neurosurgical specialists led to a conclusive diagnosis of type 2 diastematomyelia with simple spinal dysraphism. Surgical intervention, encompassing laminectomy and correction of the split spinal cord, was successfully performed, resulting in the stabilization of the patient. This case underscores the importance of early diagnosis, advanced imaging modalities, and collaborative management in addressing rare congenital spinal anomalies. The discussion delves into the clinical implications, diagnostic challenges, and the pivotal role of surgical intervention. Insights from this case contribute to the existing literature, guiding healthcare professionals in understanding and managing similar cases with potential implications for future research and treatment strategies.
