A Case Series of Three Patients with Cleidocranial Dysplasia: Clinical Presentation and Diagnostic Considerations.

Cleidocranial dysplasia (CCD) is a rare genetic condition that affects the bones and teeth. In our study, we presented three cases of CCD, including one with a new mutation and two with a family history. Case 1 had a unique heterozygous frameshift mutation (NM_001015051,c.762del, p.(Ser256Valfs*2)), while Case 2 and her brother (Case 3) had a common pathogenic missense mutation (NM_001015051,c.674G, p.Arg225Gln), which was also found in their father. The mutation in Case 1 was not reported before. Interestingly, the symptoms in Case 1, with the new mutation, were less severe than the other cases and the previous reports.

Triponderal mass index is as strong as body mass index in the determination of obesity and adiposity.

OBJECTIVE: In determining obesity and body adiposity, triponderal mass index (TMI) is as strong an anthropometric measurement as body mass index (BMI). The aim of this study was to develop TMI reference values for Turkish children and adolescents and compare TMI with BMI according to body adiposity and obesity indices. METHODS: Data from the DAMTCA-II (Determination of Anthropometric Measurements of Turkish Children and Adolescents II) study were used in this cross-sectional study. Data from 4330 children (1931 boys, 2399 girls) ages 6 to 17 y were evaluated, and the TMI percentile values were produced. The predictive power of TMI and BMI for obesity and overweight were done for waist circumference, waist/height ratio, body fat percentage, and upper arm fat area, which are different parameters used to determine body adiposity. RESULTS: The 3rd, 5th, 10th, 25th, 50th, 75th, 85th, 90th, 95th, and 97th TMI percentiles and mean values were calculated for all children's age and sex. TMI cutoff values were calculated by receiver operating characteristic analysis regarding waist/height ratio 0.5, waist circumference ≥90 percentile, arm fat area ≥85 percentile, and body fat percentage ≥85. TMI and BMI area under the curve values were similar for each of these four measurements. TMI was as robust an index as BMI in demonstrating obesity and adiposity for all age groups in boys and girls. It was concluded that the values >90th percentile (median 15.8 kg/m3) in girls aged ≤10 y, 95th percentile (median 16.2 kg/m3) in girls aged >10 y, >85th percentile (median 14.9 kg/m3) in boys aged ≤12 y and 75th percentile (median value 14.5 kg/m3) in boys aged >12 y are critical values for TMI when evaluating adiposity and obesity. CONCLUSIONS: We considered that TMI is as effective as BMI in terms of waist/height ratio, waist circumference, arm fat area, and body fat percentage in determining overweight and obesity in children. The ages at which TMI showed distinct variation were determined for both sexes.

A very rare cause of arthrogryposis multiplex congenita: a novel mutation in TOR1A.

OBJECTIVES: Arthrogryposis multiplex congenita-5 (AMC5) is an autosomal recessive disease caused by homozygous or compound heterozygous mutations in the TOR1A gene on chromosome 9q34. Congenital multiple joint contractures with microcephaly, typical facial dysmorphism, developmental delay, strabismus, tremor, and increased tone are the main characteristics defined in seven patients thus far. One third of the individuals with monoallelic mutations of the gene develop isolated early-onset dystonia (DYT1 dystonia), which is inherited in an autosomal dominant fashion, with variable expressivity and incomplete penetrance. We believe that different inheritance patterns of the same gene resulting in different phenotypes will provide an opportunity to understand other similar disease groups and different aspects of gene functions. CASE PRESENTATION: We present a case with severe arthrogryposis multiplex congenita, respiratory failure, and feeding difficulties, with additional hitherto unreported symptoms, such as spontaneous bone fracture, sliding esophageal hernia, and uterine prolapse. The patient carried a novel homozygous variant (c.835delA, p.Lys275Asnfs*3) in the TOR1A gene (NM_000113.2). CONCLUSIONS: We want to contribute to the phenotypic and genotypic spectra of this extremely rare disease.

An Unusual Presentation of T-Cell Lymphoblastic Lymphoma with Isolated Renal Involvement.

The clinical presentation of Non-Hodgkin lymphoma (NHL) is frequently associated with the involvement of the abdomen and mediastinal lymphadenopathies, but rarely the kidney, ovaries, and testicles. Here, we report a rare case of T-cell lymphoblastic lymphoma (T-LBL) presenting with bilateral nephromegaly without acute renal failure (ARF) as the first manifestation. A 30-month-old boy was admitted to the department of pediatric nephrology exhibiting abdominal distension. Physical examination revealed bilateral renal palpation up to the inguinal region. Elevated lactate dehydrogenase (LDH) levels were detected in his blood. Bilateral diffuse enlarged kidneys with increased hypoechogenicity were found on abdominal ultrasonography. In the next step, contrast-enhanced computed tomography showed diffusely enlarged kidneys, which were compressing the intestinal bowels and midline structures. Renal biopsy demonstrated precursor T-LBL. We wish to report our patient with renal T-LBL presenting with diffuse renal enlargement, which has rarely been reported in the literature.