Excess of Neuromuscular Spindles in a Fetus with Costello Syndrome: A Clinicopathological Report

Author:

Sinico Martine1,Bassez Guillaume2,Touboul Claudine3,Cavé Helene4,Vergnaud Armand2356,Zirah Clément3,Fleury-Feith Jocelyne1,Gettler Sylvain6,Vojtek Anne Marie1,Chevalier Nicole6,Amram Daniel5,Alsamad Issam Abd1,Haddad Bassam3,Encha-Razavi ferechté12345

Affiliation:

1. Service d'anatomie pathologique-foetopathologie et microscopie électronique, Hǒpital Intercommunal de Créteil, Créteil, France

2. Service d'histologie embryologie, Centre de référence des maladies neuro musculaire, Université Paris XII, Créteil, France

3. Service de gynécologie obstétrique, Hǒpital Intercommunal de Créteil, Créteil, France

4. Unité de génétique moléculaire et biochimie, Hǒpital Robert Debré, Paris, France

5. Unité fonctionnelle de génétique clinique, Hǒpital Intercommunal de Créteil, Créteil, France

6. Service de gynécologie obstétrique, Hǒpital privé Armand Briard, Nogent sur Marne, France

Abstract

The neuromuscular spindle (NMS) is a proprioceptive myofibrillar component of skeletal muscles that is necessary to maintain normal muscle tone and coordination. Recently, an excess of NMS has been reported as a congenital neuromuscular syndrome with a Noonan phenotype, now linked to Costello syndrome (CS). The vast majority of patients with CS have a de novo heterozygous mutation in the HRAS gene involved in the Ras/mitogen-activated protein kinase (MAPK) pathway. CS has many features in common with Noonan and cardiofaciocutaneous syndromes, also linked to activating mutations (but in other genes) of the Ras/MAPK pathway. This makes the orientation of molecular screening difficult. The observation of excess NMS in a 26-weeks'-gestation stillborn prompted us to screen the HRAS gene for mutation. The identification of a HRAS mutation made it possible to establish a diagnosis of CS. We conclude that the excess of NMS is the most reliable sign for the diagnosis of CS. Our findings also show the instrumental role of histological study of the skeletal muscles in the context of polyhydramnios and fetal hydrops.

Publisher

SAGE Publications

Subject

General Medicine,Pathology and Forensic Medicine,Pediatrics, Perinatology, and Child Health

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