Konference: 2008 XXXII. Brněnské onkologické dny a XXII. Konference pro sestry a laboranty
Kategorie: Nádory dětského a adolescentního věku
Téma: XXIX. Neuroonkologie dětského věku
Číslo abstraktu: 260(p260)
Autoři: doc. MUDr. Hana Ošlejšková, Ph.D.; MUDr. Věra Hořínová; prof. MUDr. Jaroslav Štěrba, CSc.; MUDr. Zdeněk Pavelka; D. Babovic-Vuksanovic; MUDr. Miroslava Muchová; Doc. RNDr. Lenka Zdražilová Dubská, Ph.D.; Doc. MUDr. Dalibor Valík, Ph.D.
Abstract
Smith-Lemli-Opitz syndrome (SLOS) is a hereditary autosomal recessive disease characterized by deficiency of 7-dehydro-cholesterol reductase, an enzyme playing a key role in cholesterol biosynthesis. Clinical picture encompasses prenatal and postnatal growth abnormalities and multisystemic structural malformations. Patients usually have typical appearance characterized by microcephaly, bitemporal narrowing, ptosis, short nasal root, anteverted nares and micrognathia. However, clinical picture and severity of symptoms are variable. Neurological findings include mild to severe mental retardation, delayed psychomotor development, initial hypotonia subsequently proceeding to hypertonia, mild to moderate sensorineural loss, epileptic seizures, behavioral and mental disturbances such as aggressivity, self-inflicted injuries, abnormal sleeping pattern, autism and depression. Various structural brain abnormalities, especially those of corpus callosum, frontal lobe hypoplasia, enlarged ventricles, alterations of gyrification, cerebellar hypoplasia, myelin maturation delay, holoprosencephaly and arachnoidal cysts have been also described. To date, predisposition for tumor development has not been considered a feature associated with this syndrome. Here, we describe a 16 year old boy with SLOS who developed cerebral germinoma. To our knowledge, this is the first report of association of this syndrome with malignant intracranial germ-cell tumor.
Smith-Lemli-Opitz syndrome (SLOS) is a hereditary autosomal recessive disease characterized by deficiency of 7-dehydro-cholesterol reductase, an enzyme playing a key role in cholesterol biosynthesis. Clinical picture encompasses prenatal and postnatal growth abnormalities and multisystemic structural malformations. Patients usually have typical appearance characterized by microcephaly, bitemporal narrowing, ptosis, short nasal root, anteverted nares and micrognathia. However, clinical picture and severity of symptoms are variable. Neurological findings include mild to severe mental retardation, delayed psychomotor development, initial hypotonia subsequently proceeding to hypertonia, mild to moderate sensorineural loss, epileptic seizures, behavioral and mental disturbances such as aggressivity, self-inflicted injuries, abnormal sleeping pattern, autism and depression. Various structural brain abnormalities, especially those of corpus callosum, frontal lobe hypoplasia, enlarged ventricles, alterations of gyrification, cerebellar hypoplasia, myelin maturation delay, holoprosencephaly and arachnoidal cysts have been also described. To date, predisposition for tumor development has not been considered a feature associated with this syndrome. Here, we describe a 16 year old boy with SLOS who developed cerebral germinoma. To our knowledge, this is the first report of association of this syndrome with malignant intracranial germ-cell tumor.
Contract grant number: MZ0MOU2005
Datum přednesení příspěvku: 18. 4. 2008
