A highly unusual case of osmotic demyelination syndrome and extrapontine myelinolysis in a 3-month-old infant with Bartter syndrome.

Bartter syndrome (BS) is a rare autosomal recessive renal tubular disorder characterized by acute electrolyte imbalance, and similarly, osmotic demyelination syndrome (ODS) is a rather rare complication occurring during electrolyte imbalance. The pathological features of ODS include central pontine myelinolysis and extrapontine myelinolysis (EPM), which consist of severe damage to the myelin sheath of neurons. ODS is very rare in children. We describe a case of a 3-month-old infant with ODS and EPM associated with undiagnosed BS. ODS developed because of a sudden change in electrolyte levels and osmolality caused by acute dehydration during a gastrointestinal infection episode. Undiagnosed, untreated, and non-balanced BS was the cause of the neurological complication. Our patient represents the first case of ODS in BS, the ninth case of ODS in an infant less than one year old, and the third case of isolated EPM in such a young patient. This case report reminds us that in rare diseases, young patients tend to have genetic components.

Unusual presentation of Rosai-Dorfman disease in a 14-month-old Italian child: a case report and review of the literature.

BACKGROUND: Rosai-Dorfman disease (RDD) is a rare form of histiocytosis characterized by histiocyte proliferation within lymph nodes and extranodal tissue. Here we report an unusual presentation of RDD in an Italian toddler. Moreover, we reviewed the pediatric case reports published between 2004 and 2014, focusing in particular on medical therapy. CASE PRESENTATION: We report the case of a 14-month-old child who developed a progressive swelling of the right parotid, associated with systemic symptoms and abnormal blood tests. During diagnostic work-up, cervical, intraparotid, and unilateral hilar lymphadenopathies were found. Histopathological and immunohistochemistry studies of a cervical lymph node biopsy established the diagnosis of RDD, with positive PCR for Epstein - Barr virus on the biopsy specimen. Oral steroid therapy was started with progressive reduction in size of all lesions, resolution of systemic symptoms, and normalization of blood tests. CONCLUSION: RDD is generally considered a benign and self-limiting form of histiocytosis, usually associated with favorable prognosis. However, complications are not infrequent and fatal cases were reported even in children. Efforts should be made to establish the best therapeutic strategy for this disease, as no well-defined guidelines exist. Finally, RDD should be included in differential diagnosis of lymphadenopathy and parotid swelling even in very young children.

Urine retention in a child treated with oral salbutamol.

It is known that voiding difficulties can be caused by some drugs, but little is known about the role about the route of administration, especially in children. We report here a case of a 3-year old Italian boy referred to the Pediatric Emergency Unit complaining of two episodes of acute urinary retention, both after therapy with oral salbutamol. In spite of recommendations to use inhaled salbutamol to treat acute wheezing, oral salbutamol is still sometimes used in some settings. Whereas other side effects of systemic salbutamol are described in children, to our knowledge this is the first description of acute urinary retention as an adverse drug reaction to oral salbutamol.

Growth Impairment and Nutritional Deficiencies in a Cow's Milk-Allergic Infant Fed by Unmodified Donkey's Milk.

We report a case of growth impairment and nutritional deficiencies in a five-month infant fed by unmodified donkey's milk. We discuss the energy and macronutrient daily intake from donkey's milk and the nutritional consequences that can occur if this kind of milk is used unmodified in the first year of life.