For Debate: Personalized Health Care: As Exemplified by Home Sodium Measurements in a Child with Central Diabetes Insipidus and Impaired Thirst Perception.

BACKGROUND: We describe a 6-year old boy with central diabetes insipidus (CDI) caused by destruction of the pituitary gland due to treatment of an optical pathway glioma. He has been treated with chemotherapy and has had several debulking operations over the past years and consequently developed central hypocortisolism, hypothyroidism and CDI. The treatment of CDI was gravely complicated by an impaired thirst perception and compulsive drinking behavior. He was frequently seen at the ER or admitted due to dysregulation of fluid balance. METHODS: In order to provide better self-reliance, home point of care testing (POCT) sodium measurement was introduced. RESULTS: Realizing POCT sodium measurement resulted in a significant decrease of ER visits and clinical admissions due to dysregulation of fluid balance. CONCLUSION: This case is an example of personalized health care and has led to better self-reliance and quality of life.

A previously healthy 11-year-old girl with behavioural disturbances, desquamation of the skin and loss of teeth.

An 11-year-old girl was admitted with backpain, weight loss, fatigue and behavioural disturbances, starting seven weeks before admission. Physical examination showed acrodynia, tremor, cachexia, hypertension and extensive gingival ulceration. Routine laboratory tests were normal, except for a CRP of 98 mg/l. Screening tests for recreational drugs as well as antibody assays for HIV, hepatitis B and borrelia burgdorferia were negative. Chest X-ray, brain CAT and MRI scan were all normal. Lumbar puncture didn't show any abnormalities. Eventually a 24-hour urine test confirmed the diagnosis that was suspected by further questioning.

EEG findings in an eleven-year-old girl with mercury intoxication.

An 11-year-old female was seen at our outpatient clinic with a broad variety of symptoms that were due to elemental mercury intoxication. Electromyography and sequential electroencephalography findings obtained at days 2, 36, 88 and 148 are described. The patient was treated with chelation therapy during which she clinically improved considerably. A profound decrease in urinary mercury concentration occurred as well as normalization of the electroencephalogram.

Stevens-Johnson syndrome in a child with chronic mercury exposure and 2,3-dimercaptopropane-1-sulfonate (DMPS) therapy.

INTRODUCTION: Stevens-Johnson syndrome (SJS) is an uncommon and potentially serious mucocutaneous disease. The most important step in the management of SJS is early recognition and immediate withdrawal of the causative agent. We present a patient with SJS associated with dimercaptopropane-1-sulfonate (DMPS) therapy. CASE REPORT: An asymptomatic 11-year old boy who had been exposed chronically to mercury vapour had a 24-hour urine mercury concentration of 37 microgram/L (reference value <10 microgram/L). Exposure to the mercury vapour was stopped and treatment with oral DMPS was begun. After two weeks of therapy, he developed a disseminated cutaneous eruption of red pruritic macules on his chest and back, which three days later had spread all over his body with the discrete maculae becoming confluent; erosions and crusts developed on his lips and he had blisters in his mouth. The diagnosis of SJS was made, the DMPS was stopped, and the SJS resolved gradually. DISCUSSION: Chelation agents like DMPS or DMSA are increasingly used and are available over the counter in some countries. These drugs are used in patients with complaints that are attributed to mercury-containing dental amalgams and in children with autism. CONCLUSION: The reported association suggests that SJS may be a potential complication of DMPS therapy, and this should be considered in the risk-benefit analysis of chelation. The reported association suggests that SJS may be a potential complication of DMPS therapy, and this should be considered in the risk-benefit analysis of chelation.