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An infant with blended phenotype of zellweger spectrum disorder and congenital muscular dystrophy
Priyanka Gupta1, Rajendra Prasad Anne1, Sai Kiran Deshabhotla1, Gayatri Nerakh2
1 Department of Neonatology, Fernandez Foundation, Hyderabad, Telangana, India
2 Medical Genetics, Fernandez Foundation, Hyderabad, Telangana, India
Correspondence Address:
Rajendra Prasad Anne,
Consultant Neonatologist, NICU, Unit 2, Fernandez Foundation, Opposite Old MLA Quarters, Hyderguda, Hyderabad - 500 029, Telangana
India
 Source of Support: None, Conflict of Interest: None DOI: 10.4103/aian.AIAN_1108_20
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We report a newborn born to a consanguineous couple with antenatally detected dilatation of third ventricle, unilateral talipes, and intra uterine growth retardation. On examination, there was facial dysmorphism, hypotonia, encephalopathy, joint laxity and muscle hypertrophy in addition to left foot talipes. On evaluation, there were renal cortical cysts, rhizomelia, chondrodysplasia punctata and elevated muscle enzymes, along with a dilated third ventricle. As the phenotype was not consistent with any of the muscular dystrophies or the peroxisomal disorders, an exome sequencing was requested. It revealed a combination of Zellweger syndrome and Ullrich congenital muscular dystrophy type 1.
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