The Science Journal of the American Association for Respiratory Care

2004 OPEN FORUM Abstracts

A RESPIRATORY CARE MANAGEMENT PLAN FOR PATIENTS WITH LISSENCEPHALY.

Denise Willis, RRT-NPS, Robert Warren, MD. Arkansas Children's Hospital, Little Rock, AR.

Introduction: Lissencephaly is a rare disorder characterized by an absence or incomplete development of the convolutions of the brain. Patients with Lissencephaly exhibit symptoms very similar to those with cerebral palsy such as hypotonia, severe developmental delay, swallowing difficulties, seizures and spasticity. Respiratory symptoms may not occur early on but develop slowly as muscle weakness increases leading to an ineffective cough effort. Recurrent pneumonia often occurs as a result of chronic aspiration of secretions. Respiratory intervention of patients with Lissencephaly plays an important role in the management of their disease process.

Case Summary:
We report the respiratory care management plan and outcomes of 3 patients with Lissencephaly followed in our clinic.

Patient A
is 1 year old and was diagnosed with Lissencephaly at birth. He has a history of seizures beginning at 4 months. A Nissen fundoplication and gastrostomy button (g-button) was performed at 8 months of age due to reflux and failure to thrive. He presented to the pulmonary clinic for an initial evaluation at 16 months of age with a history of chronic cough and congestion. He exhibited hypotonia and an ineffective cough as well as infiltrates on chest x-ray in the right middle lobe (RML). The patient’s mother was instructed to perform hyperinflation aerosol therapy with albuterol and phenylephrine followed by manual CPT to the RML and to the right and left lower lobes 2-4 times daily. A portable suction machine with a yankeur was also ordered for home use and recommendations for glycopyrrolate dosing were given. Two months after the initial clinic visit, his mother reports that he is doing better and his chest sounds much better than before. Glycopyrrolate is administered BID.

Patient B
is an 8 year old female diagnosed at 3 months of age with Lissencephaly. She has a history of seizures beginning at age 3 months and questionable asthma. A Nissen and g-button were performed at 2 years of age. She was seen initially in the pulmonary clinic at 7 years old for increasing respiratory symptoms, recurrent pneumonia, and an oxygen requirement. Current home therapy included vest treatments 2-3 times daily, budesonide, albuterol, dornase alpha, and glycopyrrolate. A mechanical insufflator-exsufflator (MI-E) device was ordered due to inadequate cough. Bi-level ventilation was initiated during a hospitalization 3 months after the initial pulmonary visit due to atelectasis and an increased work of breathing. Inhaled tobramycin was begun at a subsequent hospitalization and is now cycled every 28 days. She has not required hospitalization for 8 months now and has been stable although the need for supplemental oxygen still remains.

Patient C
is a 6 year old male diagnosed with Lissencephaly at 4 months of age. He appeared to have normal development up until then. Additional diagnoses include seizures and laryngotracheomalacia. A Nissen and g-button were performed at 14 months of age due to chronic aspiration. He received a pulmonary consult during this hospitalization and albuterol and phenylephrine were begun. Manual CPT was also being done. Glycopyrrolate was started around 14-16 months. He was admitted again at 18 months of age for respiratory distress and pneumonia and remained stable until admission was required again at 6 years for pneumonia. An MI-E device was ordered and obtained at 3.5 years of age.

Discussion:
Control of secretions may be the most important component in the respiratory care plan of patients with Lissencephaly. Increased seizure activity seems to play a role in acute respiratory illnesses. We practice a step wise approach in managing secretions through the use of: 1. Oral medications; 2. Aerosol therapy; 3. Airway clearance techniques; 4. Mechanical devices. Lissencephaly is just one of many neurodisability type conditions that eventually require pulmonary management. We are presently in the process of developing a database for technology dependent children. This database will assist in determining the efficacy of current treatment regimens and lead to the development of a protocol for respiratory treatments for patients with Lissencephaly and other neurodisability type diseases.