1/3. Perlman syndrome: four additional cases and review.Perlman syndrome was first described in 1973 and comprises nephromegaly with renal dysplasia and wilms tumor, macrosomia, cryptorchidism, and multiple facial anomalies. polyhydramnios and hypoglycaemia are often found. Twelve children have been described from six different families. Five came from one family whose Yemenite Jewish parents were second cousins. Autosomal recessive inheritance has been suggested. prognosis is severe with neonatal death in most children. We report on 4 new cases of Perlman syndrome from 3 families; all parents were non-consanguineous. Some of the observed manifestations have been described only once in this syndrome (cardiac defect, hepatic fibrosis with portoportal bridging, haemangioma) or never before (volvulus, intestinal atresia, and agenesis of the corpus callosum in 1 patient, a cleft palate in another). All children died within the first year. The 2 sibs were born prematurely with nephromegaly but without hamartomas or nephroblastomatosis. This is consistent with the hypothesis that dysplastic medullary parenchyma in preterm infants develops into nephroblastomatosis and hamartoma and eventually wilms tumor.- - - - - - - - - - ranking = 1keywords = hypoglycaemia (Clic here for more details about this article) |
2/3. pregnancy in a woman suffering from type 1 diabetes associated with Addison's disease and Hashimoto's thyroiditis (fully developed Autoimmune Polyglandular syndrome Type 2).In this article the pregnancy of a woman suffering from the complete triad typical of Autoimmune Polyglandular syndrome Type 2 (Addison's disease type 1 diabetes Hashimoto's thyroiditis) is reported. By using insulin pump therapy with insulin lispro, it was possible to balance diabetes control with changes of steroid replacement therapy. pregnancy was uneventful until week 27, when signs of preeclampsia occurred. The boy was born without difficulty at gestational age 37 weeks by planned cesarean section but signs of diabetic fetopathy (macrosomia, hypoglycaemia and hypocalcaemia) were expressed. He required a short course of hydrocortisone therapy. He made a good and rapid recovery. The mother made a good post-operative recovery too, but 4 months after the delivery microalbuminuria as well as mild hyperuricemia are still present. Interdisciplinary approach and very careful observation of the mother as well as of the child enabled successful outcome of this highly risky pregnancy.- - - - - - - - - - ranking = 1keywords = hypoglycaemia (Clic here for more details about this article) |
3/3. A mild phenotype associated with der(9)t(3;9) (p25;p23).A female infant is described with hypoglycaemia, hypotonia, obesity of the trunk and thighs, and mild dysmorphic features. growth parameters were consistently above the 90th centile. Chromosome analysis showed her to have a derived chromosome 9 inherited from a maternal t(3;9)(p25;p23) by adjacent I segregation. She had features in common with both the dup(3p) and del(9p) syndromes. There are few reports of this chromosome rearrangement and the features are milder than expected for the degree of imbalance, complicated in males by sex reversal. The repeated reports of macrosomia may suggest an overgrowth syndrome.- - - - - - - - - - ranking = 1keywords = hypoglycaemia (Clic here for more details about this article) |