1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-4-93 10.15844/pedneurbriefs-4-12-7 Developmental Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Congenital Myasthenia and Facial Malformations http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 12 1990 01 08 2016 4 12 93 94 Copyright: © 1990 The Author(s) 1990 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Congenital myasthenia associated with facial malformations in Iraqi and Iranian Jews. A new genetic syndrome

A new genetic syndrome of congenital myasthenia with distinctive ethnic clustering and associated facial malformations transmitted as an autosomal recessive disorder is reported from the Departments of Neurology and Medical Genetics, Chaim Sheba Medical Center, Tel Hashcmer, Sackler School of Medicine, Tel Aviv University, Israel.

 Congenital Myasthenia Predominant Facial Muscle Weakness Mandibular Prognathism

A new genetic syndrome of congenital myasthenia with distinctive ethnic clustering and associated facial malformations transmitted as an autosomal recessive disorder is reported from the Departments of Neurology and Medical Genetics, Chaim Sheba Medical Center, Tel Hashcmer, Sackler School of Medicine, Tel Aviv University, Israel. The syndrome was demonstrated in 14 Jewish patients from ten families of Iraqi or Iranian origin. All patients had bilateral ptosis and predominant facial muscle weakness, 11 had weak masticatory muscles, and 12 had easy fatiguability on prolonged speech. Very mild limb muscle involvement was present in only three cases. The facial malformations included an elongated face, mandibular prognathism with malocclusion and a high arched palate. The course was mild and nonprogressive, the electromyogram showed a decremental response on repetitive stimulation of either the accessory or the facial nerve but myopathic changes were not seen. Antibodies to acetylcholine receptor were absent and all patients had a response to cholinesterase inhibitors and a positive Tensilon test. There was clinical improvement with pyridostigmine. In seven of ten families there was close parental consanguinity. [1]

COMMENT. The distribution of muscle weakness in congenital myasthenia in these cases is compatible with previous reports where extraocular and facial muscle involvement have predominated [2]. The authors postulated that the facial abnormalities were secondary to the neuromuscular defect. Congenital myasthenia has been described in association with arthrogryposis, the subject of the following article.

 Goldhammer Y Blatt I Sadeh M Goodman RM Congenital myasthenia associated with facial malformations in Iraqi and Iranian Jews. A new genetic syndrome Brain 1990 Oct 113 Pt 5 1291 306 10.1093/brain/113.5.1291 2245297 Millichap JG Dodge PR Diagnosis and treatment of myasthenia gravis in infancy, childhood, and adolescence: a study of 51 patients Neurology 1960 Nov 10 1007 14 10.1212/WNL.10.7.643 13770917