Spinal muscular atrophy (SMA) is a rare neuromuscular disease characterized by degeneration of the anterior horn cells of the spinal cord and motor nuclei in the lower brainstem, resulting in hypotonia, progressive proximal muscle weakness, paralysis, and progressive respiratory insufficiency. We report the case of a 6-year-old girl diagnosed with spinal muscular atrophy type 1 (Werdnig-Hoffman disease) who has been treated at home with non-invasive ventilation (assist-control mode with a back-up respiratory rate of 26 per minute). She presented with an atrioventricular block and atrial fibrillation, as well as paroxysmal fluctuation of blood pressure and heart rate indicating autonomic dysfunction. Although it is known that patients with spinal muscular atrophy type 1 do not generally demonstrate cardiac problems, it can be concluded based on findings in our case that long-term survivors with spinal muscular atrophy type 1 may develop cardiac rhythm disturbances. We therefore recommend that the possibility of cardiac complications and autonomic dysfunction should be borne in mind in the management of such patients.
Anterior Horn Cells ; Atrial Fibrillation ; Atrioventricular Block ; Blood Pressure ; Brain Stem ; Child ; Female ; Heart Rate ; Humans ; Muscle Hypotonia ; Muscle Weakness ; Muscular Atrophy ; Muscular Atrophy, Spinal ; Neuromuscular Diseases ; Noninvasive Ventilation ; Paralysis ; Primary Dysautonomias ; Respiratory Insufficiency ; Respiratory Rate ; Spinal Cord ; Survivors

A 47-year-old man with myasthenia gravis (MG) was admitted for a lung transplant. He had bronchiolitis obliterans after allogeneic hematopoietic stem cell transplantation due to acute myeloid leukemia. MG developed after stem cell transplantation. Bilateral sequential lung transplantations and a total thymectomy were performed. The patient underwent right diaphragmatic plication simultaneously due to preoperatively diagnosed right diaphragmatic paralysis. A tracheostomy was performed and bilevel positive airway pressure (BiPAP) was applied on postoperative days 8 and 9, respectively. The patient was transferred to the general ward on postoperative day 12, successfully weaned off BiPAP on postoperative day 18, and finally discharged on postoperative day 62.
Bronchiolitis Obliterans ; Hematopoietic Stem Cell Transplantation ; Humans ; Leukemia, Myeloid, Acute ; Lung Transplantation* ; Lung* ; Middle Aged ; Myasthenia Gravis* ; Patients' Rooms ; Respiratory Paralysis ; Stem Cell Transplantation ; Thymectomy ; Tracheostomy

A 47-year-old man with myasthenia gravis (MG) was admitted for a lung transplant. He had bronchiolitis obliterans after allogeneic hematopoietic stem cell transplantation due to acute myeloid leukemia. MG developed after stem cell transplantation. Bilateral sequential lung transplantations and a total thymectomy were performed. The patient underwent right diaphragmatic plication simultaneously due to preoperatively diagnosed right diaphragmatic paralysis. A tracheostomy was performed and bilevel positive airway pressure (BiPAP) was applied on postoperative days 8 and 9, respectively. The patient was transferred to the general ward on postoperative day 12, successfully weaned off BiPAP on postoperative day 18, and finally discharged on postoperative day 62.
Bronchiolitis Obliterans ; Hematopoietic Stem Cell Transplantation ; Humans ; Leukemia, Myeloid, Acute ; Lung Transplantation* ; Lung* ; Middle Aged ; Myasthenia Gravis* ; Patients' Rooms ; Respiratory Paralysis ; Stem Cell Transplantation ; Thymectomy ; Tracheostomy

Guillain-Barré syndrome (GBS) is characterized by ascending symmetric paralysis, paresthesia, and autonomic dysfunction. Autonomic dysfunctions develop in two-thirds of the patients, and urinary retention and paralytic ileus usually develop in severe and advanced cases. There has been no pediatric case with paralytic ileus as a presenting symptom of GBS. Reported herein is a case of GBS presenting vomiting as an initial symptom. A 28-month-old girl was brought to the emergency room due to a 2-day history of vomiting. She vomited multiple times 1 day before the visit, and had only single voiding on admission day. Her abdomen was distended, with decreased bowel sound. Intravenous fluid was given under the diagnosis with acute gastroenteritis with dehydration. The abdominal computed tomography revealed severe paralytic ileus and urinary bladder distention. After having two seizures, she developed respiratory failure necessitating ventilator care. On day 8 after admission, motor weakness with areflexia was noticed. The cerebrospinal fluid analysis showed elevated proteins (80 mg/dL) with no white blood cells (0/mm³). The nerve conduction study showed axonal-type peripheral polyneuropathy. GBS was diagnosed. During the follow-up, the patient was found to have motor weakness in the lower extremities. Paralytic ileus with protracted vomiting can be an initial presentation of GBS in children. Autonomic dysfunction with GBS can be considered in a differential diagnosis in vomiting patients with unclear etiologies.
Abdomen ; Cerebrospinal Fluid ; Child* ; Child, Preschool ; Dehydration ; Diagnosis ; Diagnosis, Differential ; Emergency Service, Hospital ; Female ; Follow-Up Studies ; Gastroenteritis ; Guillain-Barre Syndrome* ; Humans ; Ileus ; Intestinal Pseudo-Obstruction* ; Leukocytes ; Lower Extremity ; Neural Conduction ; Paralysis ; Paresthesia ; Polyneuropathies ; Respiratory Insufficiency ; Seizures ; Urinary Bladder ; Urinary Retention ; Ventilators, Mechanical ; Vomiting

Muscle relaxation using neuromuscular blocking agent is an essential process for endotracheal intubation and surgery, and requires adequate recovery of muscle function after surgery. Residual neuromuscular blockade is defined as an insufficient neuromuscular recovery that can be prevented by confirming train-of-four ratio >0.9 using objective neuromuscular monitoring. Sugammadex, a novel selective relaxant-binding agent, produces rapid and effective reversal of rocuronium-induced neuromuscular blockade. We report a case of the residual neuromuscular blockade accompanying dyspnea and stridor after general anesthesia in an unrecognized pre-existing symptomless unilateral vocal cord paralysis patient, who had experienced the disappearance of dyspnea and stridor after administration of sugammadex.
Aged* ; Anesthesia, General ; Delayed Emergence from Anesthesia* ; Dyspnea* ; Humans ; Intubation, Intratracheal ; Muscle Relaxation ; Neuromuscular Blockade ; Neuromuscular Monitoring ; Respiratory Sounds ; Vocal Cord Paralysis*

A 77-year-old woman presented with exertional dyspnea six days after left pectoral pacemaker implantation. Chest radiography at presentation showed that her left diaphragm was elevated when compared to earlier films. A fluoroscopic sniff test confirmed left diaphragmatic paralysis. Thoracic computed tomography did not reveal any major vascular or lung parenchymal injury; however, phrenic nerve injury on direct needle puncture during the original surgery was suspected. The patient's small body size may have increased the risk of this injury. Delayed-onset unilateral diaphragmatic paralysis appears to be a rare complication of cardiac device implantation.
Aged ; Body Size ; Diaphragm ; Dyspnea ; Female ; Humans ; Lung ; Needles ; Phrenic Nerve ; Punctures ; Radiography ; Respiratory Paralysis* ; Thorax

Bilateral vocal cord palsy (BVCP) is a rare complication of thyroid surgery, and it is confusing and frustrating for both patients and medical staff. We found postoperative vocal cord dysfunction using a McGrath videolaryngoscope from a patient with stridor and dyspnea after thyroidectomy performed with intraoperative recurrent laryngeal nerve monitoring. Soon after, the patient was diagnosed with BVCP by an ENT otolaryngologist using a laryngeal fiberscope. The patient underwent exploration and received a permanent tracheostoma. The possibility of false negative findings from intraoperative nerve monitoring should considered if there is suspicion of BVCP in a high risk patient after thyroidectomy. The McGrath video-laryngoscope can be useful for early discovery of postoperative vocal cord dysfunction.
Dyspnea ; Humans ; Medical Staff ; Recurrent Laryngeal Nerve ; Respiratory Sounds ; Thyroid Gland ; Thyroidectomy* ; Vocal Cord Dysfunction ; Vocal Cord Paralysis* ; Vocal Cords*

Surgical procedures for atlantoaxial (C1–C2) fusion in young children are relatively uncommon. The purpose of this study was to report on a surgical treatment for a case of atlantoaxial instability caused by os-odontoideum in association with quadriparesis and respiratory paralysis in a 5-year-old girl. We present the patient's history, physical examination, and radiographic findings, describe the surgical treatment and a five year follow-up, and provide a literature review. The instability was treated by halo immobilization, followed by C1–C2 transarticular screw fixation using a computed tomography-based navigation system. At the five year follow-up, the patient had made a complete recovery with solid union. The authors conclude that C1–2 transarticular screw fixation is technically possible as in a case of atlantoaxial instability in a five-year-old child.
Child* ; Child, Preschool* ; Female ; Follow-Up Studies ; Humans ; Immobilization ; Physical Examination ; Quadriplegia ; Respiratory Paralysis

Granulomatosis with polyangiitisis [(GPA) or Wegener granulomatosis] is a multi-system disease characterized by granuloma formation and necrotizing vasculitis. GPA classically shows involvement of the respiratory tracts and the renal system. However, locoregional disease is common and may include otologic manifestations. Although otologic involvement can occur during the course of GPA, no report has described facial palsy with sudden sensorineural total deafness with vertigo as the presenting feature of GPA. This case describes a patient with multiorgan involving resistant form of GPA initially presenting with bilateral profound sudden sensorineural hearing loss and left facial paralysis with vertigo. The condition responded well to treatment with rituximab.
Deafness ; Facial Paralysis* ; Granuloma ; Hearing Loss, Bilateral ; Hearing Loss, Sensorineural ; Hearing Loss, Sudden* ; Humans ; Respiratory System ; Rituximab ; Vasculitis ; Vertigo

Herpes zoster is a varicella-zoster virus reactivation that is characterized by pain and rash. It can cause motor paresis on affecting muscles, but diaphragmatic paralysis is a rare complication. Methods of evaluation of diaphragmatic paralysis include plain radiography, fluoroscopy and electroneurography. The direct movement of diaphragmatic muscles on ultrasound can also be used to diagnose diaphragmatic paralysis. We reported a case of a 72-year-old woman who developed left hemidiaphragmatic paralysis after herpes zoster. The diaphragmatic paralysis occurred 3 weeks after appearance of a typical skin rash on the left C4-5 dermatomes. We diagnosed diaphragmatic paralysis using ultrasound.
Aged ; Diagnosis* ; Diaphragm ; Exanthema ; Female ; Fluoroscopy ; Herpes Zoster* ; Herpesvirus 3, Human ; Humans ; Muscles ; Paralysis ; Paresis ; Radiography ; Respiratory Paralysis* ; Ultrasonography*