RESUMO
Neonatal hypotonia presents with low muscle tone and an array of symptoms that vary depending on the etiology. The differential diagnosis for this condition is complex. It is crucial to exclude life-threatening causes before following a diagnostic algorithm and performing additional tests. Given the wide range of clinical symptoms and etiologies for neonatal hypotonia, rapid genetic testing has the potential to expedite diagnosis, reduce invasive testing such as muscle biopsy, reduce hospital stays, and guide condition management. A four-week-old girl was admitted to the emergency department (ED) with a one-day history of lethargy, poor feeding, congestion, cough, and hypoxemia. Given positive rhino-enterovirus testing and high inflammatory markers, antibiotics were administered. Imaging, venous blood gas, and blood cultures were negative, and the patient was admitted to the pediatric intensive care unit (PICU) for hypoxemia. After speech-language pathology (SLP) and occupational therapy (OT) evaluation, weak orofacial muscles and feeding issues resulted in a nasogastric tube placement. A swallow study revealed decreased pharyngeal contraction and post-swallow liquid residue. Laryngoscopy showed mild laryngomalacia and dysphagia with aspiration. Genetic testing identified an ACTA1 mutation and confirmed nemaline myopathy (NM). The patient's oxygen levels dropped further during sleep, resulting in diagnoses of severe obstructive and moderate-severe central sleep apnea. Treatment included oxygen therapy, SLP, physical therapy, albuterol, and cough assists. After discharge, the patient was frequently re-admitted with chronic respiratory failure and bronchiolitis and later had gastrostomy and tracheostomy tubes inserted. This specific case highlights the importance of implementing a diagnostic algorithm for neonatal hypotonia. It is also important for physicians, especially emergency medicine (EM) providers, to first exclude infection, sepsis, and cardiac and respiratory organ failure before looking into other tests. Then, physicians should evaluate for more rare etiologies. In this patient's case, the hypotonia was due to a rare genetic disease, nemaline myopathy, and a multidisciplinary approach was used for this patient's care.
RESUMO
Spinal arteriovenous malformations (sAVM) are abnormally developed spinal blood vessels with an increased risk of hemorrhage. Current literature regarding sAVMs is sparse and describes classic presentations in very young children or adults. We report a unique case of a sAVM in an adolescent patient. A 16-year-old female patient presented to the emergency department with a 3-day history of headaches. Initial CT showed no abnormalities. Worsening headaches led the patient to a neurology clinic and a fundoscopy revealed papilledema. The patient was transferred to a pediatric emergency department where repeat head CT showed a possible subarachnoid hemorrhage, and a cranial MRI/MRV showed what appeared to be a non-occlusive sinus venous thrombosis. CT angiography of the head and neck showed no evidence of thrombosis, but it did reveal possible upper thoracic vascular abnormalities. Thoracic MRI revealed an intradural sAVM at T3-T5. The sAVM was successfully resected with thoracic laminectomy with reconstructive laminoplasty. The patient experienced complications with development of right lower extremity motor and sensory deficits intra-op, but is showing continued improvement. This unique case encourages emergency medicine clinicians to expand the differential diagnoses for pediatric patients presenting with a headache and intracranial hypertension without a clear intracranial cause.