Interactive Quiz: Ptosis
Welcome to Neurology Consultant's latest interactive diagnostic quiz. Over the next few pages, we'll present a case and ask you to make the diagnosis and treat the patient. Along the way, we'll provide details about the case, and at the end, we'll share the patient's outcome.
First let’s meet the patient...
A 2-year-old girl with a history of celiac disease and eosinophilic esophagitis presented to the emergency department (ED) with 1 week of right-sided ptosis in the setting of isolated left-sided ptosis for 4 days during the prior week.
She had been seen initially by her primary care provider for evaluation of the symptoms, at which time significant dental caries had been noted, and the girl had been prescribed amoxicillin for a possible dental abscess.
The left-sided ptosis then resolved; however, several days later, she developed similar symptoms on the right side with accompanying rhinorrhea. The ptosis appeared to worsen before sleep.
A review of systems was negative for fever, eye drainage, lid swelling/erythema, abnormal gait, weakness, or generalized fatigue. Her medical history was significant for gross motor skill delay and expressive language delay.
In the ED, physical examination findings were notable for right-sided ptosis, with fatigability during prolonged upward gaze and abnormal left eye abduction causing dysconjugate gaze. Examination findings were otherwise unremarkable, with the exception of dental caries.
Answer: Order a computed tomography (CT) scan
A CT scan of the head was obtained. The results of cerebrospinal fluid studies were unremarkable. Given the persistence of symptoms, she was admitted to the hospital for further workup.
Magnetic resonance imaging (MRI)/magnetic resonance venography with sedation was performed (Figures 1 and 2). Specifically, the bilateral branches of the oculomotor nerve within the cavernous sinus appeared normal and did not explain the presence of ptosis. Furthermore, the optic chiasm and carotid arteries were without signs of compression to account for the fluctuating symptoms.
The results of the CT scan of the head revealed radiographic sinusitis without periorbital or orbital cellulitis. Results of the MRI/magnetic resonance venography with sedation demonstrated pansinusitis but most notably were negative for septic thromboembolism, mass lesion, optic neuritis, or demyelination.
Answer: Treat with intravenous (IV) polytherapy
The patient was treated with IV ampicillin-sulbactam and IV amoxicillin-clavulanate for sinusitis without resolution of neurologic symptoms.
A pediatric neurologist was consulted in the setting of fatigable weakness, normal MRI findings, and diurnal variation of ptosis. Further testing included negative electromyography (EMG) results and negative test results for anti-acetylcholine receptor (AChR) and anti–muscle-specific tyrosine kinase (MuSK) antibodies.
The patient remained well appearing without other signs of illness, and thus she was transitioned to oral amoxicillin-clavulanate for sinusitis and was discharged with plans to follow up with the pediatric neurology clinic.
Given her history of motor skill developmental delays and the fatigable nature of her ptosis, she was started on pyridostigmine, an acetylcholinesterase inhibitor, for presumed congenital myasthenia syndrome (CMS).
She experienced clinical improvement on this medication, which was felt to be likely diagnostic of CMS in the absence of positive antibody test results. Pyridostigmine was slowly titrated to symptom management at follow-up visits with subsequent improvement.
Answer: Muscle imbalance
Causes of acquired ptosis include foreign bodies, trauma, allergic reactions, conjunctivitis, cellulitis, Horner syndrome, and intracranial mass.
Rapidly progressive ptosis suggests a serious underlying problem that requires immediate evaluation. Conversely, congenital ptosis results from localized myogenic dysgenesis or denervation of the levator palpebrae superioris muscle via neurologic or neuromuscular dysfunction. Thus spinal muscular atrophy, muscular dystrophies, and brainstem anomalies should all be considered in the diagnosis.
Melanie C. Marsh, MD, and Cara Haberman, MD
Wake Forest School of Medicine, Winston-Salem, North Carolina
Marsh MC, Haberman C. Congenital myasthenia syndrome [published online June 12, 2018]. Consultant360. https://www.consultant360.com/articles/congenital-myasthenia-syndrome.