Affiliations: [a] Sección Neurología Infantil, Servicio de Neurología, Hospital Universitario 12 de Octubre, Universidad Complutense de Madrid, Spain
| [b] Unidad Neurología Infantil, Hospital Universitario de Getafe, Spain
| [c]
Medical Department, NIMGenetics, Madrid, Spain
| [d] Unidad de Genética, Hospital Universitario de Getafe, Spain
| [e] Sección Neuropatología, Servicio de Anatomía Patológica, Hospital Universitario 12 de Octubre de Madrid, Spain
Correspondence:
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Correspondence to: Dr. Ana Camacho, Sección de Neurología Infantil, Servicio de Neurología, Hospital Universitario 12 de Octubre, Carretera de Andalucía Km 5,4, 28041 Madrid, Spain. E-mail: acamacho@salud.madrid.org.
Abstract: Carey-Fineman-Ziter syndrome is a congenital myopathy associated with mutations in the MYMK gene. It is clinically defined by the combination of hypotonia, Moebius-Robin sequence, facial anomalies and motor delay. Historically it was considered a brainstem dysgenesis syndrome. We provide detailed information of a Spanish boy with compound heterozygous variants in MYMK gene. A muscle biopsy performed as a toddler only disclosed minimal changes, but muscle MRI showed severe fatty infiltration of gluteus muscles and to a lesser extent in adductors magnus, sartorius and soleus muscles. Clinical course is fairly static, but the identification of new well characterized genetic cases will help to delineate the complete phenotype.
