Leopard syndrome and Chiari type I malformation: a case report and review of the literature.

INTRODUCTION: The authors present a 31-year-old man with a Chiari type I malformation (CM-1) occurring in conjunction with LEOPARD syndrome. He presented with severe dysphagia requiring placement of a percutaneous endoscopic gastrostomy (PEG) tube. Evaluation included magnetic resonance imaging (MRI) of the brain and cervical spine that revealed CM-1 with an extensive cervical syrinx. The patient underwent a suboccipital craniectomy with C1 laminectomy and duraplasty. His symptoms quickly resolved and his PEG tube was removed. DISCUSSION: The occurrence of a CM-1 with LEOPARD syndrome has only been reported once, whereas CM-1 and Noonan syndrome have been linked in several cases. The similarity between LEOPARD and Noonan syndromes has been reported and many propose they represent 2 entities along a spectrum. CONCLUSION: In light of this spectrum, we propose that CM-1 should be considered in all patients presenting with LEOPARD-Noonan syndrome.

Difficult-to-wean: High index of suspicion.

PATIENT: Female, 57 FINAL DIAGNOSIS: Syryngomyelia • cervical SYMPTOMS: Acute respiratory insufficiency Medication: - Clinical Procedure: - Specialty: Pulmonology. OBJECTIVE: Rare disease. BACKGROUND: Failed planned extubation occurs in a minority of patients with acute respiratory failure requiring invasive mechanical ventilation. In patients presenting with acute respiratory failure with no identifiable cardiopulmonary causes, uncommon conditions, such as cervical spondylotic myelopathy, should be considered. In very rare instances, when cervical spondylotic myelopathy and syringomyelia present concomitantly, they can be devastating. CASE REPORT: A 57-year-old woman visited the emergency room (ER) after feeling unwell for several days. She was brought to the ER with acute respiratory distress and obtunded state with GCS of 6/15. She was hypotensive and agonally breathing. Her initial neurologic evaluation was unrevealing. Based on these findings, she was intubated. Over the next several days, she was difficult to wean from the ventilator and had persistent respiratory acidosis. After a short-lived extubation, the patient was again re-intubated. This time the neurologic evaluation showed decreased movements of all muscle groups against gravity and forces, with generalized weakness. An MRI of the brain and cervical spine demonstrated moderate degenerative disc disease and syringomyelia extending from C2 to C7 level. The patient underwent de-compression laminectomy. After failing several weaning trials, she underwent bronchoscopically-assisted tracheotomy. CONCLUSIONS: Acute cardiopulmonary and intensive care unit-acquired neuromuscular conditions have been attributed as a major cause of difficult weaning and extubation. Failure to identify and correct other rare combinations (such as cervical degenerative disc disease and syringomyelia) may cause acute respiratory failure and subsequent failure to wean and extubation, resulting in high rates of mortality and morbidity.