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Case 2: The clues were in the stools.

A previously well four-month-old boy presented to the emergency department with a five-day history of progressive weakness, poor suck, weak cry and lethargy. There was no history of fever, rash, vomiting or diarrhea. In fact, he had not had a bowel movement for one week. There were no abnormal movements to suggest seizure activity, nor was there a history of trauma or abuse. His neonatal history was unremarkable. He had been exclusively breastfed, and demonstrated normal growth and development. His immunizations were up to date. His parents denied any use of medications or supplements. His physical examination revealed a placid, but alert afebrile child. His heart rate was 120 beats/min, with a blood pressure of 76/45 mmHg, a respiratory rate of 32 breaths/min and an oxygen saturation of 100%. His anterior fontanelle was soft, flat and nonpulsatile. He cried very little and his cry was weak, even with painful stimuli. He had bilateral ptosis and diminished extraocular movements. His pupils were equal in size and were slowly reactive to light. Fundoscopy was normal. He fixed and followed visual stimuli normally. There was a significant head lag. His suck and gag reflexes were poor. He was moving all limbs, but was hypotonic. Reflexes were normal and symmetric. The infant’s bloodwork was unremarkable, with the exception of a slightly elevated leukocyte count of 16.7×109/L. He had normal blood gas, electrolyte, glucose, lactate, urea, creatinine and liver function tests. Blood and urine cultures were sent for testing. The chest x-ray and computed tomography of the head were unremarkable. A lumbar puncture was conducted; however, it yielded a bloody tap on two attempts. The cerebrospinal fluid was sent for culture testing. Treatment was initiated with intravenous ceftriaxone, vancomycin, acyclovir and dexamethasone. The following morning, the boy’s status was unchanged. Subsequently, cultures, serum and urine toxicology, metabolic workup, an electroencephalogram and magnetic resonance imaging results were obtained to exclude sagittal sinus venous thrombosis; all results were negative. Ophthalmological examination confirmed significant ptosis with a normal examination of the retinas and fundi. The leukocyte count returned to normal, and antibiotic treatment was discontinued within 72 h of admission.