A. is a 14-year-old Colombian girl adopted at the age of 8 after serious abuse and maltreatment. She came to our attention for dizziness and anomalies of eye movements, associated with severe migraine, photo-phonophobia and nausea, triggered by even small head movements. PMH: sporadic episodes of constrictive headache, bicornuate uterus, malformation of paranasal sinuses, upper calyceal distention of the right kidney with parapyelic cysts and Rathke’s cleft cyst. Physical examination: rapid saccadic movements in all direction in ŌŌ accentuated during fixa-tion, linear hypopigmentation on the medial side of the lower limbs along the lines of Blaschko. MRI of brain and cervical spine, ENT visit, eye examination, EEG all normal. The negativity of the investigations, clinical data (improvement in eye movements, persistent headache) and the gradual mood deflection, lead to a migrainous syndrome associated with anxiety somatization disorders. Considering the phenotypic aspects and malformations, genetic investigations were required. Array-CGH analysis revealed a 1,2 Mb duplica-tion of the 17q12 region, containing approximately 15 genes. A few cases of this alteration have been described in the litera-ture recently, associated with a wide phenotypic variability, particularly mental retardation and epilepsy, behavioural abnormalities, urogenital malformations, MODY, esophageal atresia and dyschromatosis.

Dizzy with genetics

SAGGESE, GIUSEPPE
2013

Abstract

A. is a 14-year-old Colombian girl adopted at the age of 8 after serious abuse and maltreatment. She came to our attention for dizziness and anomalies of eye movements, associated with severe migraine, photo-phonophobia and nausea, triggered by even small head movements. PMH: sporadic episodes of constrictive headache, bicornuate uterus, malformation of paranasal sinuses, upper calyceal distention of the right kidney with parapyelic cysts and Rathke’s cleft cyst. Physical examination: rapid saccadic movements in all direction in ŌŌ accentuated during fixa-tion, linear hypopigmentation on the medial side of the lower limbs along the lines of Blaschko. MRI of brain and cervical spine, ENT visit, eye examination, EEG all normal. The negativity of the investigations, clinical data (improvement in eye movements, persistent headache) and the gradual mood deflection, lead to a migrainous syndrome associated with anxiety somatization disorders. Considering the phenotypic aspects and malformations, genetic investigations were required. Array-CGH analysis revealed a 1,2 Mb duplica-tion of the 17q12 region, containing approximately 15 genes. A few cases of this alteration have been described in the litera-ture recently, associated with a wide phenotypic variability, particularly mental retardation and epilepsy, behavioural abnormalities, urogenital malformations, MODY, esophageal atresia and dyschromatosis.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11568/237802
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