EXTL3-Associated Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities: A Lethal Phenotype.

Background: Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) caused by Exostosin-Like Glycosyltransferase 3 (EXTL3) biallelic mutations is a very rare syndrome with only 16 cases reported in the literature. Skeletal dysplasia, neurodevelopmental delay, immunodeficiency, liver, and kidney cysts are the most common findings of this syndrome. Case Presentation: Here, we report on a patient who exhibited a lethal phenotype with clinical characteristics of this syndrome and had a homozygous pathogenic mutation in EXTL3 gene. Conclusions: ISDNA should be kept in mind in the differential diagnosis of patients presenting with neuro-immuno-skeletal dysplasia phenotype.

The use of ultrasonography in infantile hypertrophic pyloric stenosis: does the patient's age and weight affect pyloric size and pyloric ratio?

AIMS: We aimed to obtain pyloric measurements of our patients with infantile hypertrophic pyloric stenosis (IHPS) using ultrasonography (US) and to evaluate the correlations between age, weight and pyloric size, pyloric ratio (PR). MATERIAL AND METHODS: We designed a retrospective study including 20 term infants with surgically proven IHPS and studied the ultrasonographically obtained pyloric muscle thickness (PMT), pyloric diameter (width) (PD), pyloric length (PL) and PR (PMT/PD) to determine if there were statistically significant associations between patient age/weight and pyloric measurements. RESULTS: The mean age of the infants was 38.7+/-17.3 days (range, 9-76 days) and their mean weight was 3688.5+/-772.7 g (range, 2810-6000 g), at referral. Mean PMT was 4.98+/-1.04 mm (range, 3.5-6.8 mm). Mean PD was 14.04+/-2.39 mm (range, 10-18 mm). Mean PL was 22.16+/-4.02 mm (range, 16-31.5 mm) and mean PR was 0.35+/-0.04 (range, 0.29-0.42). The correlation between age and PMT (r=0.654, p<0.05) and the correlation between age and PD (r=0.747, p <0.05) were significant. Age and weight were not significantly correlated with PR (p>0.05). CONCLUSIONS: The PMT and PD are age dependent parameters. The PR is age and weight independent and therefore, when combined with PMT, PD and PL, it can be useful in the diagnosis of IHPS in infants with early onset disease and/or in those with a lower weight.

Ultrasonographic and scintigraphic findings of thyroid hemiagenesis in a child: report of a rare male case.

Thyroid hemiagenesis is a rare congenital anomaly in which one lobe of thyroid gland fails to develop. It is much rarer in males. There is a higher incidence of associated thyroid disorders in patients with thyroid hemiagenesis; therefore early and prompt diagnosis is important for children. We present the ultrasonographic and scintigraphic findings of thyroid hemiagenesis in an eight-year-old-boy. On ultrasonography (US), left lobe of the thyroid gland could not be demonstrated and the right lobe showed minimal hyperplasia. Its echogenicity was normal and no nodule was seen. On thyroid scintigraphy, left lobe of thyroid gland or any ectopic thyroid tissue could not be demonstrated, while the right lobe showed minimal hyperplasia. Without performing any invasive procedure, we enrolled the child in a follow-up program with the guidance of US and scintigraphy, which were effective both in making the final diagnosis of thyroid hemiagenesis and in evaluating the current status of the present thyroid tissue. In conclusion, if only one thyroid lobe is detected in a pediatric case initially with US or scintigraphy, the diagnosis of thyroid hemiagenesis should be suggested and, before any unnecessary or invasive attempt, the other complementary method (scintigraphy/US) should be performed.