Microgeodic disease in an infant.

We describe an infant presenting with intermittent discolouration and swelling of her fingers and toes occurring with changes in ambient temperature. Extensive investigations revealed raised inflammatory markers as well as sclerotic lesions within the phalanges and diffuse marrow oedema. Infectious and inflammatory causes were considered and excluded based on the clinical presentation and investigation findings. The persistence of symptoms prompted further investigation with MRI. Correlation of the MRI findings with previous case reports resulted in a diagnosis of microgeodic disease-an uncommon, self-limiting condition thought to be due to cold-induced vasospasm leading to avascular necrosis of the bone.

Charting the Territory: End-of-Life Trajectories for Children With Complex Neurological, Metabolic, and Chromosomal Conditions.

CONTEXT: For parents, family, or clinicians of children with rare life-threatening conditions, there is little information regarding likely symptoms, illness trajectory, and end-of-life care. OBJECTIVES: This descriptive analysis of a bereaved cohort recruited in the charting the territory study describes patient characteristics, symptoms, use of medications, discussion of resuscitation orders, and care provided preceding and during the end of life. METHODS: Of the 275 children enrolled in the Charting the Territory study, 54 died between 2009 and 2014. Baseline demographic information, symptoms, interventions, and medical information were collected via chart review, interviews, and surveys. RESULTS: Fifty-one of the 54 children had complete medical records. Of the seven symptoms evaluated, children were found to have an increase in median symptoms from baseline (n = 2) to time of death (n = 3). Opioids were used in the last 48 hours of life in 29 (56.9%) children, whereas only eight (15.7%) were receiving opioids at baseline. Do Not Attempt Resuscitation orders were in place at baseline in 17 (33.3%) children, increasing to 33 (64.7%) at time of death. Death occurred in a hospice setting in 16 (31.4%) children. CONCLUSION: Although much emphasis on pediatric palliative care has been on supportive treatment and symptom management, when faced with a lack of sound understanding of a rare illness, the mode of care can often be reactive and based on critical needs. By developing greater knowledge of symptoms and illness trajectory, both management and care can be more responsive and anticipatory, thereby helping ease illness burden and suffering.