Niemann-Pick type C (NPC) disease is a lysosomal neurovisceral storage disease. The spectrum of the clinical presentation as well as the severity of the disease and the age of presentation may be highly variable. Fetal presentation is rarely described in the literature. Here, we report on seven new cases of fetal onset NPC of whom two were diagnosed in utero and five postnatally. The fetal clinical presentation, included, in utero splenomegaly (6/7), in utero hepatomegaly (5/7), in utero ascites (4/7), intra uterine growth retardation (IUGR) (2/7), and oligohydramnios (2/7). Placentomegaly was present in two of the three pregnancies examined. Congenital thrombocytopenia (4/4), congenital anemia (2/4), and petechial rash (2/5) were diagnosed immediately after birth. Three patients were born preterm. Pregnancy and postnatal outcome were remarkably poor with one case of intrauterine fetal death, one elective termination of pregnancy, and four patients who died within the first months of life from a rapidly fatal neonatal cholestatic disease. NPC1 gene mutation analysis identified all of the mutant alleles including three novel mutations. Splenomegaly, hepatomegaly, and ascites were the most consistent prenatal ultrasonographic findings of the NPC fetuses. We suggest that once identified these findings, should raise the suspicion of fetal NPC. Our study further expands the antenatal clinical spectrum of NPC and provides clues to its prenatal diagnosis.
SUMMARYThe immunologieal markers proposed to supplement intestinal biopsy for the diagnosis of coeliac disease are antigliadin, antireticulin and antiendomysial antibodies. These antibodies have been studied separately or compared as pairs, but no prospective comparison of all three antibodies in childhood coeliac disease exists. Thirty-four confirmed coeliacs were compared with nine noncoeliacs with pathological small intestines, and 32 children with a normal intestinal histology. Sera were examined for IgG-and IgA-antigliadin antibodies (AGA) by ELISA, and for IgA-antireticulin antibodies (ARA) and IgA endomysial antibodies (EMA) by indirect immunofluorescence. In active coeliac disease, IgA-EMA was the most sensitive (97%), while IgA-AGA the least sensitive antibody (52%). The specificity of IgA-AGA, IgG-AGA, IgA-ARA, IgA-EMA was 95%, 92%, 100% and 98%, respectively. Positive predieted values of ARA and EMA were comparable (97-100%), while EMA had the highest negative predicted value (98%). Compared with IgG-AGA, IgA-EMA titres better reflected variations in dietary gluten, and correlated best with intestinal pathology. Compared with AGA and ARA sensitivity, specificity and predietive values, EMA is the most reliable serological marker for the diagnosis of coeliac disease. It reflects dietary changes in gluten and correlates best with intestinal histopathology. Therefore, it should be considered the best ofthe three serological tests available for childhood coeliac disease.
SUMMARY An eight‐month‐old infant developed autonomic seizures, manifested by skin reaction (harlequin‐like syndrome) and paroxysmal bradycardia. Interictal EEG showed multifocal spikes. 24‐hour EEG/ECG monitoring disclosed episodes of cerebral decremental response associated with cardiac nodal rhythm. Head CT and other laboratory tests were normal. Despite excellent seizure control with carbamazepine, the child has moderate psychomotor retardation. RÉSUMÉ Crises sympathiques chez un nourrisson: manifestations cutanées et cardiaques inhabituelles Un nourrisson de huit mois a présenté des crises sympathiques, traduites par une réaction cutanée (syndrome d'Arlequin) et une bradycardie paroxystique. L'EEG intercritique montra des pointes multifocales. Un enregistrement EEG/ECG sur 24 heures révéla des réponses cérébrales de ralentissement associées à un rythme cardiaque nodal. Le scanner céphalique et les autres examens de laboratoire étaient normaux. En dépit d'un excellent contrôle des crises par carbamazepine, l'enfant a un retard psychomoteur modéré. ZUSAMMENFASSUNG Autonome Anfälle bei einem Säugling: ungewöhnliche Haut‐ und Herzmanifestationen Ein acht Monate alter Säugling entwickelte autonome Anfälle, manifestiert durch Hautreaktionen (Harlequin Syndrom) und paroxysmale Bradicardien. Das interiktal abgeleitete EEG zeigte multifokale Spikes. Die 24 Stunden Überwachung von EEG und EKG zeigte Episoden verminderter cerebraler Aktivität bei gleichzeitigem AV‐Block. Die Computertomogramme des Kopfes und die Laboruntersuchungen waren normal. Trotz sehr guter medikamentöser Einstellung hatte das Kind eine mäz̀ige psychomotorische Retardierung. RESUMEN Crisis autonómicas en un lactante: manifestaciones cardiacas y cutáneas inusuales Un lactante de ocho meses de edad sufrió crisis autonómicas que se manifestaban por reacciones cutáneas (sindrome de tipo Arlequin) y bradicardia paroxística. El EEG intercrítico mostraba puntas multifocales. Un EEG/ECG monitorizado durante 24 horas puso de manifesto episodios de decreción de respuesta cerebral en asociación con un ritmo cardiaco nodal. La TAC cerebral y otras exploraciones fueron normales. A pesar de un excelente control de las convulsiones con carbamacepina el niño tenía un retraso psicomotor moderado.
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