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Congenital Hydranencephalic-Hydrocephalic Syndrome Associated With Mitochondrial Dysfunction

Department of Pediatrics Child Neurology Service, pdcastro{at}uscmail.usc.es

Adela Alonso, MD

Department of Pediatrics Child Neurology Service

Elena Pintos-Martinez, MD

Pediatric Radiology Service

Andrés Beiras-Iglesias, MD, PhD

Pediatric Radiology Service

Yolanda Campos, MSc

Pathologic Anatomy Service General Hospital of Galacia

Joaquin Arenas, PhD

Pathologic Anatomy Service General Hospital of Galacia

Maria Inés Novo-Rodriguez, MD

Center of Investigation Hospital of October 12th Madrid, Spain

Jesus Eiris-Punal, MD

Center of Investigation Hospital of October 12th Madrid, Spain

We report the case of a 3-year-old girl, the only child of a nonconsanguineous couple without relevant antecedents, who was born with hydranencephalic-hydrocephalic syndrome diagnosed by ultrasonography at gestation week 28, and who was treated during the neonatal period by implantation of a ventriculoperitoneal shunt. She showed severe mental retardation, and died at age 4 years following an acute respiratory infection. Due to persistently high lactic acid levels in blood, muscle and skin biopsies were taken. Analysis of muscle biopsies revealed microscopic and ultrastructural alterations typical of mitochondrial disorders, and low levels of complexes III and IV of the mitochondrial respiratory chain. The enzymes of the pyruvate dehydrogenase complex showed normal activities in cultured skin fibroblasts. These findings raise the possibility that at least some cases of congenital hydranencephalic-hydrocephalic syndrome may be due to alterations in the mitochondrial respiratory chain. (J Child Neurol 1999; 14: 131-135).

Journal of Child Neurology, Vol. 14, No. 2, 131-135 (1999)
DOI: 10.1177/088307389901400213


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