Mãe e filha com disfunção severa do lobo frontal e epilepsia com início na adolescência

Passos, Giordani Rodrigues dos; Fernández, Alonso Cuadrado; Vasques, Adriana Machado; Martins, William Alves; Palmini, André

doi:10.1590/S1980-5764-2016DN1003011

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CASE REPORT • Dement. neuropsychol. 10 (03) • Jul-Sep 2016 • https://doi.org/10.1590/S1980-5764-2016DN1003011 linkcopiar

Mãe e filha com disfunção severa do lobo frontal e epilepsia com início na adolescência

Autoria SCIMAGO INSTITUTIONS RANKINGS

Casos familiares de disfunção proeminente do lobo frontal associada a epilepsia com início precoce ainda não foram relatados. Nós descrevemos uma mãe e sua filha única com manifestações comportamentais incapacitantes de disfunção do lobo frontal e epilepsia de severidade variável. A possibilidade de uma condição genética ainda não descrita é discutida.

Palavras-chave:
lobo frontal; genética comportamental; neuropsiquiatria; epilepsias parciais; hereditariedade

Cognitive domains / specific tests*		Mother - at age 28^§¶	Mother - at age 49^¶	Daughter - at age 28^§
Memory - Wechsler Memory Scale - Revised (SD)	Verbal Memory I	-0.8	-1.6	-1.8
	Verbal Memory II	-1.3	-1.8	-0.9
	Visual Memory I	0.2	-3.6	-0.7
	Visual Memory II	-3.2	-3.8	-1.1
Verbal learning - Rey Auditory Verbal Learning Test (SD)	Verbal Learning I	-1.0	-1.7	-1.7
Verbal learning - Rey Auditory Verbal Learning Test (SD)	Verbal Learning II	-2.1	-1.1	-1.3
Intelligence - Wechsler Adult Intelligence Scale (raw scores and corresponding categories)	Arithmetic	7 / low average	7 / low average	6 / low average
	Digit Span	11 / average	11 / average	7 / low average
	Similarities	11 / average	9 / average	10 / average
	Comprehension	10 / average	6 / low average	4 / low
	Block Design	8 / low average	7 / low average	8 / low average
	Picture Completion	8 / low average	10 / average	11 / average
	Picture Arrangement	8 / low average	9 / average	9 / average
	Digit Symbol	7 / low average	7 / low average	7 / low average
Attention and processing speed - Trail Making Test (SD)	Test A	-3.9	-16.5	-2.7
Attention and processing speed - Trail Making Test (SD)	Test B	-3.2	-12.3	-7.9
Executive function	Wisconsin Card Sorting Test (raw score)	3 out of 6	3 out of 6	0 out of 6
Visuospatial ability	Rey-Osterrieth Complex Figure Test (SD)	0.2	-8.0	-2.6
	Hooper Visual Organization Test (category)	superior	very superior	N/A
Language	Boston Naming Test (SD)	1.1	0.5	0.9

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[TFN1] *Scores highlighted with gray background indicate deficits on the neuropsychological tests. ^§Note the similar pattern of neuropsychological dysfunction for both mother and daughter at age 28 years. ^¶Note the progression of the mother's cognitive deficits from age 28 to age 49. SD: standard deviation; N/A: not available.