Nota Clínica

Gorlin syndrome in the paediatric age

P. Roncalés-Samanes, J.L. Peña-Segura, R. Fernando-Martínez, C. Fuertes-Rodrigo, A. García-Oguiza, J. López-Pisón [REV NEUROL 2014;58:303-307] PMID: 24677153 DOI: OPEN ACCESS
Volumen 58 | Number 07 | Nº of views of the article 13.366 | Nº of PDF downloads 681 | Article publication date 01/04/2014
Icono-PDF-OFF Download PDF Castellano Citation Search in PubMed
Share in: Facebook Twitter
Go to another issue
ABSTRACT Artículo en español English version
INTRODUCTION Gorlin syndrome (GS) is a disorder transmitted by dominant autosomal inheritance associated to mutations in PTCH1, the main characteristic of which is the appearance of basal cell carcinomas, together with skeletal abnormalities, odontogenic keratocysts and intracranial tumours. CASE

REPORT A girl aged 3 years and 10 months, who was admitted due to acute ataxia. Some of the more striking features in the patient’s personal history include psychomotor retardation and a family history of suspected GS in the mother as a result of a maxillary cyst. An examination revealed macrocephaly with a prominent forehead and hypertelorism, as well as nevus. A genetic study for GS was requested, in which mutation c.930delC was detected in exon 6 of the PTCH1 gene in heterozygosis.

CONCLUSIONS In GS there is an increase in the likelihood of developing basal cell carcinomas and strict dermatological monitoring is necessary. A clinical neurological follow-up and also magnetic resonance imaging scans are needed for an early diagnosis of intracranial tumours, especially in the case of medulloblastomas. Odontogenic keratocysts, other skin disorders, and cardiac and ovarian fibromas are characteristic, as are skeletal abnormalities, which require regular clinical and neuroimaging controls and treatment if needed, but radiation must be avoided. GS is a rare disorder, but it must be suspected in the presence of characteristic alterations. It requires a multidisciplinary follow-up, and it is also necessary to establish a protocol on how to act so as to allow early diagnosis and treatment of the potentially severe complications deriving from this disease.
KeywordsAcute ataxiaBasal cell carcinomaGorlin syndromeOdontogenic keratocystsProtocolPTCH1
FULL TEXT (solo disponible en lengua castellana / Only available in Spanish)