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Boletín Clínico de la Asociación Médica del Hospital Infantil del Estado de Sonora

2005, Number 2

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Bol Clin Hosp Infant Edo Son 2005; 22 (2)

Neurocutaneus diseases in children and adolescents. Clinical experience and parents perception of the disease

Campbell-Araujo OA, Figueroa-Duarte AS

Language: Spanish
References: 21
Page: 119-126
PDF size: 72.87 Kb.


ABSTRACT

Introduction: The neurocutaneous diseases (ENC) are a kind of disorders that start in early infancy, ectodermic origin, skin affection, nervous system and others organs. Geneticaly determinated (3 Mendelians lines), sporadic presentations occurred (somatic mutations, other mechanisms). Evolutive condition. Different classifications, but hereditary is more accepted. Fluctuations in prevalency is depending of syndrome. ENC have a lot of clinical neurological and systemic manifestations.
Objectives: 1. Restrospective review of clinical manifestations and studies accesories, and establish a correlation with medical literature. 2. Know parent´s perception about EN in their family and their impact. 3. Publication of our information.
Material and Methods: Phase I. A retrospective review of clinical records of children with ENC diagnosis; from august 1998 thru august 2004. They were evaluated in institutional Unit and in private practice. We have analized the clinical aspects, laboratory, psychological evaluations and neuroimaging and EEG studies. Phase II. Report and interview parents of children with ENC.
Type of study: Phase I. Retrospective and observational. Phase II. Prospective and cualitative.
Results: We reviewed 15 clinical records. Twelve cases were males and three females.
Incontinence pigmenti in two cases. Nine cases of complex tuberous esclerosis, three with Sturge-Weber Syndrome, and one of Neurofibromatosis type 1. Epilepsy in 13 cases and abnormal EEG in the same numbers of patients. Neuroimaging studies were abnormal in 13 cases.
Development delay was observed in 12 children. About parents opinion, we report: sense of control loss, sense of being different, anxiety, doubts about necessity of specific treatments, face of disfiguration, emotional burden in parents and relatives.
Conclusions: A high co-morbility in ENC with multiple and different neurological disabilities. There is a difficulty in treatment from medical and psycosocial point of view. It’s fundamental to recognize the magnitude of the problem and the hardship with the everyday confrontation in children with a chronic desabilities. This paper reflects the parents experience with unresolved outcomes, beyond the physicians role.


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