Severe hyponatremia in an infant with epidermolysis bullosa: a case report

Epidermolysis bullosa is a rare inherited connective tissue disorder compromising cellular junctions. Blister formation is the first manifestation of epidermolysis bullosa. As cellular adhesion is affected, it can affect many organs. Due to compromised skin integrity, water loss and electrolyte imbalances are prevalent in these patients. However, hypernatremia is the usual observed sodium imbalance rather than hyponatremia.

The patient was a 48-day-old Iranian male infant born near term. He was diagnosed with epidermolysis bullosa at 1 month of age. The patient was brought to the pediatrics center with apnea and respiratory distress, and was intubated and admitted to the pediatric intensive care unit. His symptoms started 4 days before the admission with vomiting and poor feeding, and the patient later developed loss of consciousness. Vital signs revealed a pulse rate of 154 beats per minute, respiratory rate of 70 per minute, a temporal temperature of 36.5 °C, nondetectable blood pressure, and oxygen saturation of 96%. The patient was anuric at presentation and was rehydrated. Physical examination showed bolus eruptions all over the body but not in mucosal membranes. Important laboratory findings were white blood cell count of 41,000/mm³ with 68% neutrophils, hemoglobin of 10.8 g/dL, platelet count of 856,000/mm², negative C-reactive protein (CRP), blood sugar of 514 mg/dL, urea of 129 mg/dL, sodium of 98 mg/dL, corrected sodium of 105 mg/dL, potassium of 5.5 mg/dL, serum creatinine of 1.7 mg/dL, and serum procalcitonin of more than 75 ng/mL. Urine analysis revealed many red blood cells. Brain computed tomography demonstrated loss of differentiation between gray and white matter and effacement of cortical sulci suggesting severe cytotoxic edema.

We administered 3% hypertonic saline and corrected the plasma sodium levels, and provided the patient with multiple doses of mannitol as well as antibiotics due to the leukocytosis. Subsequently, after 3 days in pediatric intensive care unit, the symptoms of brain edema resolved, and after 4 days, he was weaned from the ventilator and extubated. Later he was discharged from the pediatric intensive care unit.

This study illustrates the possibility of severe hyponatremia in patients with epidermolysis bullosa to clinicians. Although uncommon, knowledge on such possibilities is vital due to the possible detrimental outcomes for patients.