Untreated and rapid correction of neonatal hypernatremia leads to severe neurological complications. We describe the case of a six-week-old female who presented with failure to thrive, and further workup revealed hypernatremic dehydration. Initially, she did not respond to treatment to correct the hyperosmotic state. Treatment with desmopressin was then initiated to determine the cause of hypernatremia. Central diabetes insipidus was confirmed as the patient responded to desmopressin. Serum sodium levels then dropped significantly, and the patient had three seizures within 24 hours. Cerebral edema was ruled out through computed tomography (CT) and electroencephalogram. Following the diagnosis of central diabetes insipidus, anterior pituitary hormone levels were obtained and found to be decreased. An investigation into the possible cause of panhypopituitarism led to the final diagnosis of septo-optic dysplasia, including absent septum pellucidum, optic nerve hypoplasia, and panhypopituitarism.
Syncope is a common chief complaint in the emergency department (ED); however, the workup of syncope is quite extensive. Likewise, community-acquired pneumonia (CAP) can also be difficult to diagnose due to the wide range of signs and symptoms, and even a larger list of etiologies. Syncope as a presenting symptom of CAP has demonstrated to be a challenging clinical association to make. We present a case of a previously healthy 14-year-old female who presented to the ED for having an episode of syncope at softball practice. Notable aspects of the case-age of the patient and the obscure presentation, as well as laboratory and imaging resultsmade this case challenging. Thus, obtaining a thorough history from the patient and family and performing a detailed physical examination can really help a clinician lead to an accurate diagnosis.
Burnside Butler syndrome or 15q11.2 microdeletion syndrome is a relatively rare chromosomal abnormality that is recently being recognized. Current diagnostic techniques like chromosomal microarray analysis (CMA) have profoundly contributed to currently reported cases. The diagnostic dilemma is that prenatal screening and karyotype analysis typically yield unclear results. We would like to emphasize the importance of taking a detailed family history, knowing the classic clinical features, and using CMA to help diagnose this syndrome. We present an eight-year-old Caucasian female with a past medical history of intrauterine growth restriction, microcephaly, a high arched palate, speech delay, and a learning disability with recurrent bleeding from the eyes and oral cavity. The bleeding co-occurs whenever she develops the common cold.
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