J Pediatr Genet 2019; 08(04): 205-211
DOI: 10.1055/s-0039-1694015
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Cerebral White Matter Lesions and Dysmorphisms: Signs Suggestive of 6p25 Deletion Syndrome—Literature Review

1  Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, Catania University, Catania, Italy
,
Simona Domenica Marino
2  General Pediatrics and Pediatric Acute and Emergency Unit, Policlinico-Vittorio-Emanuele University Hospital, University of Catania, Catania, Italy
,
Giovanni Corsello
3  Mother and Child Department, Operative Unit of Pediatrics and Neonatal Intensive Therapy, University of Palermo, Palermo, Italy
,
Martino Ruggieri
1  Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, Catania University, Catania, Italy
,
Danilo Castellano Chiodo
4  Operative Unit of Neonatal Intensive Therapy, Garibaldi Hospital, Catania, Italy
,
Silvia Marino
2  General Pediatrics and Pediatric Acute and Emergency Unit, Policlinico-Vittorio-Emanuele University Hospital, University of Catania, Catania, Italy
,
Raffaele Falsaperla
2  General Pediatrics and Pediatric Acute and Emergency Unit, Policlinico-Vittorio-Emanuele University Hospital, University of Catania, Catania, Italy
› Author Affiliations
Further Information

Publication History

17 April 2019

20 June 2019

Publication Date:
04 August 2019 (online)

Abstract

Deletion of the region including chromosome 6p25 has been defined as a syndrome, with more than 68 reported cases. Individuals affected by the syndrome exhibit variable findings, including developmental delay and intellectual disability, cardiac anomalies, dysmorphic features, and—less commonly—skeletal and renal malformations. Ocular and hearing abnormalities are the most notable presenting features. The region encompasses more than 15 genes, of which the FOX group is the most likely causal factor of the clinical manifestations. We report the case of a 2-year-old child with developmental delay, generalized hypotonia, facial dysmorphism, and anomalies involving malformations of the eyes, heart, teeth, and skeleton. The magnetic resonance imaging (MRI) of the child's brain displayed cerebral anomalies involving the white matter, perivascular spaces, and corpus callosum. Array-CGH (comparative genomic hybridization) analysis displayed a de novo partial deletion of the short arm of chromosome 6, extending 5.13 Mb from nt 407.231 to nt 5.541.179. In infancy, neuroradiologic findings of abnormalities in the cerebral white matter and other neurologic anomalies elsewhere in the brain, in association with dysmorphisms and malformations, are highly suggestive of the diagnosis of 6p25 deletion syndrome. When these anomalies are found, the syndrome must be included in the differential diagnosis of disorders affecting the cerebral white matter.

Ethical Approval

The authors have no ethical conflicts to disclose.