Ptosis, Areflexia and Ataxia in a 4-year-old Girl.

1. Sofia Helena Ferreira, MD* 2. Carolina Lopes, MD* 3. Mariana Abreu, MD* 4. Claudia Melo, MD* 5. Dilio Alves, MD* 6. Raquel Sousa, MD* 1. *Department of Pediatrics of Centro Hospitalar de Sao Joao, Porto, Portugal 1. Address correspondence to Sofia Helena Ferreira, Department of Pediatrics of Centro Hospitalar de Sao Joao, Alameda Prof. Hernâni Monteiro 4200–319, Porto, Portugal. E-mail: sofiahferreira{at}gmail.com A 4-year-old girl with a 2-day history of progressive walking impairment, hands and legs pain, and bilateral palpebral ptosis was admitted to the emergency department. One week earlier she had an upper respiratory tract infection. Her past medical history is unremarkable. Her parents were nonconsanguineous, young, and healthy. At the emergency department, the child was sleepy and with episodic irritability. She complained of hands and feet pain and refused to walk. She had bilateral ptosis and deep tendon reflexes were decreased in the lower limbs. Her neurological examination was otherwise normal. Blood testing reveals normal complete blood count, renal and liver function, electrolytes, muscle enzymes, and C-reactive protein. Urine toxicology screen is negative. Head computerized tomography is normal. A lumbar puncture is performed and cerebrospinal fluid examination is normal, including normal cell count, glucose, and protein (with no cytoalbuminologic dissociation being present). Microscopic analysis and polymerase chain reaction for enterovirus, parvovirus, herpes 6, and herpes simplex 1 and 2 viruses are requested. Serologies for Borrelia , Mycoplasma pneumonia , parvovirus B19, cytomegalovirus, Epstein-Barr virus, herpes simplex 1 and 2, enterovirus, Haemophilus influenza , and Campylobacter jejuni were done. Because of the somnolence and irritable behavior, the possibility of encephalitis is considered. She is admitted and ceftriaxone and acyclovir infusions are initiated. On the second day, her clinical condition deteriorates: she becomes lethargic and develops ophthalmoplegia and gait impairment, dysesthesias, and high blood pressure. She is admitted to the intensive care unit. A brain magnetic resonance imaging and electromyography are performed, and a serum antibody test for GQ1b is requested. ### Differential Diagnosis and Actual Diagnosis Initially, regarding the presence of excessive sleepiness …