Convulsiones neonatales por incontinencia pigmenti con disgenesia opercular izquierda

Cano, Rafael Ruiz; Gil, R. Tébar; García, L. Pérez; Monzón, Carmen Medina; Gutiérrez, Andrés Martínez; Romero, María Cristina

doi:10.33588/rn.3601.2002036

Cited by 2 publications

(2 citation statements)

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“…Neurological manifestations appear in 10–30% of cases and mark the prognosis of the disease, which can include epilepsy and a delay in psychomotor development. Brain atrophy, neonatal stroke, and corpus callosum hypoplasia have also been described [ 16 , 17 ].…”

Section: Discussionmentioning

confidence: 99%

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Oral Rehabilitation as Part of a Multidisciplinary Treatment in a Case Study of Pigmentary Incontinence

Cano-Rosás,

Vicente-Jiménez,

Diosdado-Cano

et al. 2023

Children

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We present the clinical course of a 9-year-old female patient with Bloch–Sulzberger syndrome and severe neurological deficit that met the major (classic cutaneous signs) and minor (dental anomalies and retinal pathology) diagnostic criteria of Landy and Donnai. Longitudinal multidisciplinary follow-up was carried out from birth to adulthood. Neurological involvement was assessed with electroencephalographic (EEG) and neuroimaging tests at different times during the patient’s life. Cranio-maxillofacial involvement was evaluated using lateral skeletal facial and cephalometric analyses. The right and left facial widths were measured through frontal face analysis and using the vertical zygomatic–midline distance. Oral rehabilitation was performed through orthodontic treatment and major dental reconstruction using composite resins. This treatment aimed to improve the occlusion and masticatory function, relieve the transversal compression of the maxilla, and reconstruct the fractured teeth. We believe that, due to significant neurological and cognitive impairment, orthognathic surgery was not the best option for restoring function and improving oral health-related quality of life.

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Section: Discussionmentioning

confidence: 99%

“…Although the classic presentation of the syndrome is dermatological, seizures may arise, although infrequent, after birth during the perinatal period [ 17 , 23 ], as in the case presented here.…”

Section: Discussionmentioning

confidence: 99%