Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.

BACKGROUND: Juvenile neuronal ceroid lipofuscinosis (JNCL, NCL3, Batten disease) is usually caused by a 1.02-kb deletion in the CLN3 gene. Mutations in the CLN1 gene may be associated with a variant form of JNCL (vJNCL). We report the clinical course and molecular studies in 24 patients with JNCL collected from 1975 to 2010 with the aim of assessing the natural history of the disorder and phenotype/genotype correlations. PATIENTS AND METHODS: Patients were classified into the groups of vJNCL with mutations in the CLN1 gene and/or granular osmiophilic deposit (GROD) inclusion bodies (n = 11) and classic JNCL (cJNCL) with mutations in the CLN3 gene and/or fingerprint (FP) profiles (n = 13). Psychomotor impairment included regression of acquired skills, cognitive decline, and clinical manifestations of the disease. We used Kaplan-Meier analyses to estimate the age of onset of psychomotor impairment. RESULTS: Patients with vJNCL showed learning delay at an earlier age (median 4 years, 95% confidence interval [CI] 3.1-4.8) than those in the cJNCL group (median 8 years, 95% CI 6.2-9.7) (P = 0.001) and regression of acquired skills at a younger age. Patients with vJNCL showed a more severe and progressive clinical course than those with cJNCL. There may be a Gypsy ancestry for V181L missense mutation in the CLN1 gene. CONCLUSIONS: The rate of disease progression may be useful to diagnose vJNCL or cJNCL, which should be confirmed by molecular studies in CLN1/CLN3 genes. Further studies of genotype/phenotype correlation will be helpful for understanding the pathogenesis of this disease.

Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.

Focal dermal hypoplasia (FDH) is an X-linked developmental disorder with male lethality characterized by patchy dermal hypoplasia, skeletal and dental malformations, and microphthalmia or anophthalmia. Recently, heterozygous loss-of-function mutations in the PORCN gene have been described to cause FDH. FDH shows some clinical overlap with the microphthalmia with linear skin defects (MLS) syndrome, another X-linked male lethal condition, associated with mutations of HCCS in the majority of cases. We performed DNA sequencing of PORCN in 13 female patients with the clinical diagnosis of FDH as well as four female patients with MLS syndrome and no mutation in HCCS. We identified PORCN mutations in all female patients with FDH. Eleven patients seem to have constitutional PORCN alterations in the heterozygous state and two individuals are mosaic for the heterozygous sequence change in PORCN. No PORCN mutation was identified in the MLS-affected patients, providing further evidence that FDH and MLS do not overlap genetically. X chromosome inactivation (XCI) analysis revealed a random or slightly skewed XCI pattern in leukocytes of individuals with intragenic PORCN mutation suggesting that defective PORCN does not lead to selective growth disadvantage, at least in leukocytes. We conclude that the PORCN mutation detection rate is high in individuals with a clear-cut FDH phenotype and somatic mosaicism can be present in a significant proportion of patients with mild or classic FDH.

Bebé colodión transitorio / Self-healing collodion baby

Introducción. El bebé colodión neonatal es una forma clínica de presentación de la ictiosis congénita. En el estudio colaborativo español de malformaciones congénitas (ECEMC) la frecuencia es inferior a un caso cada 100.000 recién nacidos. Caso clínico. Presentamos el caso clínico de un recién nacido afectado de esta patología que, a pesar de la espectacularidad de la exploración clínica en el periodo neonatal, presentó una buena evolución posterior. Comentarios. Se plantea el diagnóstico diferencial de las posibles entidades que pueden debutar en el periodo neonatal en forma de bebé colodión y se comenta la posibilidad de efectuar estudios genéticos moleculares(AU)

Introduction. Congenital ichthyosis, which presents as collodion baby, is a very rare disorder. In our national collaborative study of congenital malformations (ECEMC) only one out of more than 100.000 newborns is diagnosed as having congenital ichthyosis. Case report. We describe the case of a trasient collodion baby who, despite the prominent clinical findings at birth, had a bening course. Bebè col·lodió transitori M. Mar Garcia González 1, Mar Calvo 1, Pilar Villalobos 1, Stephan Schneider 1, Elena Riera 1, M. Jesús Muntané 2, Miquel Just 3, Vicente Villa 4 1 Servei de Pediatria 2 Servei d’Anatomia Patològica; 3 Servei de Dermatologia; Fundació Salut Empordà. Figueres (Girona). 4 Servei de Dermatologia. Hospital Sant Joan de Déu. Barcelona Comments. The differential diagnosis of possible clinical disorders that can manifest as collodion baby in the perinatal period is discussed. Molecular genetic studies are also reviewed(AU)

Controvèrsies en el tractament del THDA / No disponible

No disponible

Rumiación en el lactante / Severe malnutrition in an infant due to rumination

La rumiación o mericismo es un trastorno de la conductaalimentaria que se puede presentar a lo largo detoda la edad pediátrica, aunque es más habitual en el primeraño de vida y posteriormente en niños afectos de retrasopsicomotor, patología neurológica o psiquiátrica debase. Puede ocasionar una grave afectación nutricional einclusive la muerte en un porcentaje nada despreciable decasos (20%) si no se trata de forma adecuada.Presentamos el caso clínico de un lactante de 7 meses,sin ningún tipo de patología previa, que ingresó en nuestrocentro para estudio de una distrofia grave que era secundariaa una conducta mantenida de ruminación.Aunque la ruminación es un trastorno de conducta alimentariaya contemplada en los tratados pediátricos clási-Ruminació com a causa de distròfia greu en unlactantM. Mar García-González, Stephan Schneider, Pilar Villalobos, Alícia Cabacas, Lluís Mayol,Elena RieraServei de Pediatria. Hospital Comarcal de Figueres. Gironacos, son escasas las publicaciones y referencias sobre eltema en los últimos años en la literatura pediátrica. Presentamosel caso clínico para recordar esta patología dentrodel diagnóstico diferencial de la distrofia en el niño

Rumination or merycism is a disturbance of eatingbehavior that is more commonly diagnosed during thefirst year of life, or at older ages in children with developmentaldelay or with neurologic or psychiatric disorders.Rumination can cause severe malnutrition and even deathin up to 20% of the cases if adequate therapy is not institutedearly.A case of a previously healthy seven month-old infantwho was admitted to our hospital because of severe malnutritionand that was shown to be secondary to persistentrumination is presented.Despite the fact that rumination is a well known disturbanceof eating behavior, well described in Pediatricstextbooks, scarce references have been published in recentyears in the pediatric literature. Rumination should beincluded in the differential diagnosis of malnutrition inchildren