INTRODUCTION: This is a report of a girl with two different genetic disorders, Duchenne muscular dystrophy (DMD) and DiGeorge syndrome. The aim of this study is to discuss the cause of manifest DMD in a female and to underline phenotypic particularities in both diseases. METHODS: Patient’s history, neurological findings, genetic testing, muscle biopsy and clinical course were detailed. RESULTS: A 1 year 8 months old girl from healthy parents, born after pregnancy with polyhydramnios, hypotonia and postnatal tube feeding, presented with cranio-facial abnormalities (broad flat face, epicanthic eye-folds, hypertelorism, small mouth, prominent upper lip, low-implanted helix-folded ears, short broad-root nose, bifid uvula), delayed milestones achievement, difficulty moving from sitting to standing, calves pseudohypertrophy, nasal speech, recurrent infections. She had creatine-kinase levels of 27.000 to 17.000 U/L. No cardiac, renal anomalies were detected. Neuro-muscular panel and array-CGH revealed a heterozygous copy number gain of exons 3-12 in DMD gene (x3), [arr(GRCh38]Xp21.1(32607492-32931352), and deletion of 22q11.2(TBX1-,N85A3+). Another larger duplication 46,X,dup(X)(p21.2p11.4).ish dup(x)(p21.2p11.4)(wcpX+) was found using FISH method (Whole chromosome X Painting).Due to clinical phenotype suggesting DMD, a muscle biopsy was performed, showing moderate dystrophic process with important immunohistochemical expression anomalies of the dystrophins 1, 2 and 3 (mosaicism) and utrophin overexpression. DMD and DiGeorge syndrome were diagnosed. CONCLUSIONS: 1.A skewed X-inactivation pattern is the key mechanism for disease expression in females with X-linked recessive pathogenic variants. 2.DMD and DiGeorge syndrome association was not described in the literature. 3.This association will lead to challenging management. DISCLOSURES: Nothing to disclose.

Dana Craiu
Pediatric Neurology, Carol Davila University of Medicine, Department of Neurosciences, Discipline of Pediatric Neurology
Romania

Niculina Butoianu
Pediatric Neurology Clinic Alexandru Obregia Hospital Bucharest, Romania
Romania

Alexandra Bastian
Discipline of Pathology, Department II, Faculty of Dental Medicine, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania
Romania

Sabina Zurac
Discipline of Pathology, Department II, Faculty of Dental Medicine, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania
Romania

Mihaela Dobrescu
Romania

Alexandru Caramizaru
Romania

Dan-Alexandru Iosza
. Universitatea de Medicina si Farmacie "Carol Davila" Bucuresti, Medicina Generala, Chirurgie Pediatrica
Romania

Andra-Claudia Stinea
Pediatric Neurology, Carol Davila University of Medicine, Department of Neurosciences, Discipline of Pediatric Neurology
Romania