O.A. Oyinlade, I.A. Lagunju, and B.E. Adebayo
Department of Paediatrics, College of Medicine, University of Ibadan/University College Hospital, Ibadan
Abstract
Background: Nemaline rod disease is a congenital myopathy, presentation of which may mimic myasthenia gravis.
Methods: We report a suspected case of nemaline rod disease in a female adolescent who presented with features similar to myasthenia gravis but failed to respond effectively to its conventional management. She had features of respiratory failure and cardiomyopathy
Result: Patient had a turbulent clinical course and finally succumbed to illness on the fifth day of admission.
Conclusion: This report is meant to sensitize child neurologists and general paediatricians on the need to have a broad spectrum of considerations in the management of suspected myasthenia gravis, especially when response to anticholinesterase is poor.
Keywords: Nemaline disease, Myasthenia gravis, Anticholinesterase
Correspondence:
Dr. O.A Oyinlade
Neurology unit,
Department of Paediatrics,
College of Medicine,
University of Ibadan/University College Hospital,
Ibadan.
E mail: ladealex2005@yahoo.com
Introduction
Nemaline Rod Disease, otherwise known as Nemaline Myopathy (NM) is a congenital myopathy characterized by hypotonia, muscle weakness and often skeletal deformities with the presence of nemaline rods in the muscle biopsy1-3. Facial and respiratory muscles can be involved in NM and several patients with the condition have been known to experience respiratory failure2-4. Cardiac involvement, particularly dilated cardiomyopathy, may occur3,4 and cardiac and respiratory involvement have been documented as indices of worse prognosis1,2.
Myasthenia Gravis (MG) is a group of autoimmune neuromuscular diseases characterized by abnormal neurotransmission at the motor endplate resulting from destruction of acetylcholine receptors by anti acetylcholine receptor antibodies3,4. It is characterized by varying degree of muscle weakness, most patients (85%) presenting with ocular symptoms ranging from ptosis, diplopia or blurred vision while others could present with leg, arm, face, neck and trunk weakness, bulbar symptoms and generalized fatigue4. Autoimmune MG in children is most commonly divided into neonatal transient and juvenile types, onset of which is usually after 10 years of age4. Without treatment, MG can become progressive and life threatening, especially when the bulbar and respiratory muscles are affected1, 2. The heart is not involved in myasthenia gravis and electrocardiographic findings remain normal while roentgenogram of the chest often reveals an enlarged thymus1. Most patients usually respond well to anticholinesterases with or without a variety of immunosuppressive medications2
We present the case of an 11 year old Nigerian girl with suspected nemaline rod disease.