A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up

Background Gorlin–Chaudhry–Moss syndrome (GCMS) and Fontaine–Farriaux syndrome (FFS) are extremely rare genetic disorders that share similar clinical manifestations. Because a de novo missense mutation of the solute carrier family 25 member 24 (SLC25A24) gene was suggested to be the common genetic basis of both syndromes, it has been proposed recently that they be integrated into a single disorder under the name of Fontaine progeroid syndrome (FPS). Case presentation A 9-year-old Korean girl presented with typical clinical features of FPS. She had generalized loose skin with decreased subcutaneous fat, skin wrinkling on the forehead and limbs, skull deformities and a peculiar facial appearance with microphthalmia and midface hypoplasia, anomalies of the digits and nails, a large umbilical hernia and a nearly normal developmental outcome. She exhibited prenatal and postnatal growth retardation together with short stature, and records showed that her height and weight were invariably under − 2.0 SD from birth to the age of 10 years. SLC25A24 analysis revealed a heterozygous mutation reported previously, NM_013386:c.650G > A, p.[Arg217His]. After screening her family for the identified mutation, she was confirmed as being a de novo case of FPS caused by an SLC25A24 mutation. Conclusion We describe a Korean girl with typical clinical findings of FPS and a de novo mutation in SLC25A24, as well as 10 years of clinical follow-up, including growth and developmental achievements.This study was supported by grant no. 05–2018-0010 from the SNUH Research Fund. The funder had no role in study design, data collection and analysis, decision to publish or preparation of the manuscript

Supratentorial Gangliocytoma Mimicking Extra-axial Tumor: A Report of Two Cases

We report two cases of supratentorial gangliocytomas mimicking an extra-axial tumor. MR imaging indicated that the tumors were extra-axial, and meningiomas were thus initially diagnosed. Relative to gray matter, the tumors were hypointense on T1-weighted images and hyperintense on T2-weighted images. On contrast-enhanced T1-weighted images, homogeneous enhancement was observed, while CT scanning revealed calcification in one of the two cases

Association of Cytotoxic T Lymphocyte Antigen-4 Gene Polymorphisms and HLA Class II Alleles with the Development of Type 1 Diabetes in Korean Children and Adolescents

We studied the association of cytotoxic T lymphocyte antigen-4 gene (CTLA4) polymorphisms with the development of type 1 diabetes (T1D) in Korean children and adolescents. A total of 176 Korean subjects (92 females and 84 males) with childhood-onset T1D were studied. The A/G polymorphism at position 49 in CTLA4 exon 1 and the C/T polymorphism at position -318 in the CTLA4 promoter were analyzed by PCR-RFLP methods. The genotype and allele frequencies of the CTLA4 polymorphisms in the T1D patients were not different from those in the controls. These polymorphisms were not associated with the clinical characteristics or the development of autoimmune thyroid disease in the T1D patients. The frequency of the A allele was significantly higher in the patients that did not have two out of the three susceptible HLA-DRB1 alleles, which were DRB1*0301, *0405 and *09012, compared to the controls (P<0.05). These results suggest that CTLA4 polymorphisms do not directly confer any susceptibility to T1D. However, a CTLA4-mediated susceptibility effect on the development of T1D might be significant in children and adolescents that do not have susceptible HLA class II alleles.Steck AK, 2005, DIABETES, V54, P2482Yu J, 2004, CLIN IMMUNOL, V113, P318, DOI 10.1016/j.clim.2004.08.009Ueda H, 2003, NATURE, V423, P506, DOI 10.1038/nature01621Mochizuki M, 2003, DIABETES CARE, V26, P843Field LL, 2002, DIABETOLOGIA, V45, P21Abe T, 2001, DIABETIC MED, V18, P726Ligers A, 2001, GENES IMMUN, V2, P145Takara M, 2000, DIABETES CARE, V23, P975Park YJ, 2000, THYROID, V10, P453Lee YJ, 2000, CLIN ENDOCRINOL, V52, P153Abe T, 1999, DIABETES RES CLIN PR, V46, P169Park MH, 1999, HUM IMMUNOL, V60, P901Yanai K, 1999, CLIN EXP ALLERGY, V29, P29Gonzalez-Escribano MF, 1999, TISSUE ANTIGENS, V53, P296Badenhoop K, 1999, EXP CLIN ENDOCR DIAB, V107, pS89Heward JM, 1998, CLIN ENDOCRINOL, V49, P331Donner H, 1998, DIABETES, V47, P1158Djilali-Saiah I, 1998, DIABETES, V47, P125Yanagawa T, 1997, THYROID, V7, P843Marron MP, 1997, HUM MOL GENET, V6, P1275Owerbach D, 1997, DIABETES, V46, P1069Donner H, 1997, J CLIN ENDOCR METAB, V82, P143Lane P, 1997, ANN NY ACAD SCI, V815, P392Deichmann K, 1996, BIOCHEM BIOPH RES CO, V225, P817Nistico L, 1996, HUM MOL GENET, V5, P1075Walunas TL, 1996, J EXP MED, V183, P2541WALUNAS TL, 1994, IMMUNITY, V1, P405BANNAI M, 1994, EUR J IMMUNOGENET, V21, P1LUCASSEN AM, 1993, NAT GENET, V4, P305EISENBARTH GS, 1986, NEW ENGL J MED, V314, P1360

MR Imaging and Histopathologic Findings of A Case of Cerebral Ganglioneurocytoma

We report a case of ganglioneurocytoma manifesting as a complex partial seizure in a young adult male. MR images depicted a well-marginated cystic mass with a heterogeneous solid portion abutting the dura in the parietal lobe. The solid portion showed minimal heterogeneous enhancement, and pressure erosion of the overlying calvarium had occurred. Following gross total resection, the clinical outcome was satisfactory, with no further seizures, and during the five-year follow-up period, the tumor did not recur

Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is a rare form of hereditary rickets, which is characterized by defective bone mineralization and renal phosphate wasting due to a loss-of-function variant in the ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene. Although pathogenic variant of ENPP1 has been known to manifest other phenotypes including arterial calcification, hearing loss, ossification of posterior longitudinal ligament, or pseudoxanthoma elasticum, there have been few reports including systematic examination in individuals diagnosed with ARHR2 to date. Herein, we report a case of ARHR2 with a bi-allelic pathogenic variant of ENPP1, in which the patient presented with gait abnormalities with severe genu varum at 26 months of age. Targeted gene panel sequencing was performed to investigate the genetic cause of rickets, and a homozygous nonsense variant in ENPP1, c.783C&gt;G (p.Tyr261*), was identified. The patient was treated with oral phosphate and active vitamin D supplements and underwent corrective osteotomy for varus deformity. His phenotype was limited to rickets. A periodic systematic evaluation is needed to identify any comorbidities in ARHR2 patients since ENPP1 variants may present phenotypes other than rickets and symptoms may evolve or change over time

Impact of very preterm birth and post-discharge growth on cardiometabolic outcomes at school age: a retrospective cohort study

Background Adverse metabolic outcomes later in life have been reported among children or young adults who were born as preterm infants. This study was conducted to examine the impact of very preterm/very low birth weight (VP/VLBW) birth and subsequent growth after hospital discharge on cardiometabolic outcomes such as insulin resistance, fasting glucose, and systolic and diastolic blood pressure (BP) among children at 6–8 years of age. Methods This retrospective cohort study included children aged 6–8 years and compared those who were born at < 32 weeks of gestation or weighing < 1,500 g at birth (n = 60) with those born at term (n = 110). Body size, fat mass, BP, glucose, insulin, leptin, adiponectin, and lipid profiles were measured. Weight-for-age z-score changes between discharge and early school-age period were also calculated, and factors associated with BP, fasting glucose, and insulin resistance were analyzed. Results Children who were born VP/VLBW had significantly lower fat masses, higher systolic BP and diastolic BP, and significantly higher values of fasting glucose, insulin, and homeostatic model assessment of insulin resistance (HOMA-IR), compared to children born at term. VP/VLBW was correlated with HOMA-IR and BPs after adjusting for various factors, including fat mass index and weight-for-age z-score changes. Weight-for-age z-score changes were associated with HOMA-IR, but not with BPs. Conclusions Although children aged 6–8 years who were born VP/VLBW showed significantly lower weight and fat mass, they had significantly higher BPs, fasting glucose, HOMA-IR, and leptin levels. The associations of VP/VLBW with cardiometabolic factors were independent of fat mass and weight gain velocity.This research was supported by a grant from the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHID I), funded by the Ministry of Health & Welfare, Republic of Korea (HI14C3451)

Relationships of Basal Level of Serum 17-Hydroxyprogesterone with that of Serum Androstenedione and Their Stimulated Responses to a Low Dose of ACTH in Young Adult Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

A single measurement of serum 17α-hydroxyprogesterone (17OHP) level can be unreliable because of its marked diurnal variation. We investigated the relationship of serum level of 17OHP with that of androstenedione (AD), which shows a smaller diurnal variation. And we tested whether the responses of these two hormones to low-dose ACTH stimulation are correlated in patients with 21-hydroxylase deficiency. Baseline serum 17OHP and AD levels were measured in 87 patients and a low-dose ACTH stimulation test was performed in 41 patients. The basal 17OHP level correlated positively with the basal AD level independently of sex, type of 21-hydroxylase deficiency, and the time of day of blood sampling (n = 87, R2 = 0.75, P < 0.001). The area under the curve of 17OHP and AD correlated positively with their respective basal levels. The fold-change increase in 17OHP after ACTH injection correlated negatively with the basal 17OHP level, but that of AD did not correlate with the basal AD level. The random serum 17OHP level, used in the clinic, is a reliable guide and a low-dose ACTH stimulation test provides no extra benefit for assessing the treatment adequacy in patients with 21-hydroxylase deficiency