“Inverse type” apple-peel syndrome is associated with type III colonic atresia in a neonate with gastroschisis

The colon is an unusual site of intestinal atresia. Colonic atresia is subdivided into three phenotypes. Type III is the most common phenotype, where the proximal and distal blind sacs are not connected. Here, we report on the presence of colonic atresia with an “inverse apple-peel” appearance in a neonate with gastroschisis. The lack of mesenteric fixation of the entire small intestine, including the proximal colon, and the twisting around the vascular axis of the superior mesenteric artery led to intrauterine volvulus and hemorrhagic infarction of the ileocolic bowel at 34 weeks of gestation. According to the current nomenclature for small bowel atresia, we introduce type IIIB into the current colonic atresia classification. The occurrence of type IIIB has been mentioned in the literature, but no single cases have been reported until now. Patients with this type of atresia are predisposed to the loss of the ileocecal region

Case report: Severe neonatal course in paternally derived familial hypocalciuric hypercalcemia

Familial hypocalciuric hypercalcemia (FHH, [OMIM #145980]) is recognized as a benign endocrine condition affecting PTH and calcium levels due to heterozygous inactivating mutations in the calcium sensing receptor ($\it CaSR$). The condition is often un- or misdiagnosed but may have a prevalence as high as 74 in 100.000. Here, the neonatal courses of two brothers with paternally inherited FHH ($\it {CaSR_c.554}$G>A; p.($\it {Arg185Gln}$)) are described. The older brother was born preterm at 25 weeks gestation with hypercalcemia and hyperparathyroidism. The younger brother, born full-term, had severe hyperparathyroidism, muscular hypotonia, thrombocytopenia, failure to thrive and multiple metaphyseal fractures. Treatment with cinacalcet was initiated, which resulted in subsequent reduction of PTH levels and prompt clinical improvement. While it is known that homozygous mutations in $\it CaSR$ may lead to life-threatening forms of neonatal severe hyperparathyroidism (NSHPT), few reports have described a severe clinical course in neonates with FHH due to heterozygous mutations. However, based on the pathophysiological framework, in $\textit {de novo}$ or paternally transmitted FHH the differing calcium needs of mother and fetus can be expected to induce fetal hyperparathyroidism and may result in severe perinatal complications as described in this report. In summary, FHH is a mostly benign condition, but transient neonatal hyperparathyroidism may occur in affected neonates if the mutation is paternally inherited. If severe, the condition can be treated successfully with cinacalcet. Patients with FHH should be informed about the risk of neonatal disease manifestation in order to monitor pregnancies and neonates