Peak serum luteinising hormone cut-off during gonadotropin-releasing hormone analogue test for diagnosing central precocious puberty was lower in girls with obesity as compared with girls with normal weight.

OBJECTIVE: Serum luteinising hormone (LH) concentration has been reported to be lower in girls with overweight and obesity (OW/OB) as compared with girls with normal weight (NW). This study aimed to evaluate peak serum LH concentration during gonadotropin-releasing hormone analogue (GnRHa) test in girls with OW/OB and NW who had central precocious puberty (CPP) and to determine peak serum LH cut-off for diagnosing CPP in girls with OW/OB. DESIGN, PATIENTS AND MEASUREMENTS: Medical records of 971 girls with premature breast development who underwent subcutaneous GnRHa (100 µg of triptorelin acetate) test were reviewed. All girls were classified as either CPP or premature thelarche. All of them were further classified into two groups according to their body mass index as NW and OW/OB groups for each Tanner stage. RESULTS: There were 634 and 337 girls in NW and OW/OB groups, respectively. CPP was diagnosed in 600 girls (249 had Tanner stage II and 351 had Tanner stage III). There were no differences in peak serum LH concentrations between CPP girls with NW and OW/OB. Peak serum LH cut-off of 5 IU/L (the current widely used cut-off) had a sensitivity and a specificity of 75% and 90%, respectively in NW group. Peak serum LH cut-off for CPP diagnosis was lower at 4 IU/L in the OW/OB group with greater sensitivity and specificity of 86% and 93%, respectively. The results were reproducible for each Tanner stage of breasts. CONCLUSION: Lower peak serum LH cut-off to 4 IU/L for diagnosing CPP in girls with OW/OB should be considered to avoid underdiagnosis of the condition.

Frequent Unrecognized Vertebral Fractures Associated with Increased Body Fat Mass in Children and Adolescents with Duchenne Muscular Dystrophy.

OBJECTIVE: Patients with Duchenne muscular dystrophy (DMD) have an increased risk of vertebral fractures (VFs). Ethnic variations may partly contribute to the fracture risk. This study aimed to demonstrate the VFs and body fat mass in Asian patients with DMD. METHODS: Demographic data and DMD-related parameters of the enrolled patients were collected. Lateral thoracolumbar spine radiographs were performed for VF assessment. The Genant classification was applied for VF severity grading (mild, moderate, and severe). Body composition analysis using dual-energy X-ray absorptiometry was performed. Serum calcium, phosphate, intact parathyroid hormone, and 25-hydroxyvitamin D concentrations were determined. RESULTS: There were 25 children and adolescents with DMD enrolled. The median (interquartile range [IQR]) age was 12.9 (9.6-19.3) years. Nine patients (36%) had VFs with a total of 31 sites of VFs (mild, N = 10; moderate, N = 3; and severe, N = 18). These VFs had never been recognized prior to this study. Comparing with the non-VF group, the VF group received a significantly greater cumulative prednisolone equivalent dose (1,258 [948-1,664] vs. 291 [17-823] mg/kg, p = 0.003). Body fat mass, represented by fat mass index and body fat percentage Z-scores, was greater in the VF group (2.46 [2.21-2.51] vs. 1.63 [0.36-2.07], p = 0.011 and 4.4 [3.1-5.5] vs. 1.8 [0.6-3.5], p = 0.008, respectively). No differences in serum calciotropic hormones and vitamin D status were demonstrated between patients with and without VFs. CONCLUSIONS: VFs were frequent in patients with DMD. Patients with VFs had greater cumulative glucocorticoid dose and body fat mass than those without VFs.

Long-term outcomes of anti-thyroid drug treatment in childhood-onset Graves' disease.

OBJECTIVE: Outcomes of childhood-onset Graves' disease (GD) and suggested duration of anti-thyroid drug (ATD) therapy have been controversial. This study aimed to determine long-term outcomes following ATD therapy, including remission and relapse rates. DESIGN, PATIENTS AND MEASUREMENTS: A retrospective study of 265 paediatric patients with GD who were initially treated with ATD was conducted. Long-term outcomes were analysed. RESULTS: Median (IQR) age at diagnosis was 11.5 (9.4, 13.7) years. Duration of ATD treatment was 4.3 (2.3, 6.7) years and time since diagnosis to the enrolment was 7.1 (3.8, 10.9) years. There were 77, 93 and 95 patients who underwent definitive treatment, had ATD discontinuation, and were still being treated with ATD, respectively. The remission rate was 21% (56 out of 265 patients) and relapse rate was 40% (37 out of 93 patients). Cumulative incidence of first remission increased with the duration of ATD treatment with maximum remission rate at 5.3 years following ATD therapy. Among patients who experienced relapse, approximately 50% had disease relapse which occurred within 1 year after ATD discontinuation. Patients with goitre size of less than 3.5 cm, thyroid-stimulating hormone receptor antibody of less than 10 IU/L, no ophthalmopathy at diagnosis and methimazole dose requirement of less than 0.25 mg/kg/day at 1 year after treatment were more likely to achieve remission. CONCLUSIONS: Remission rate of childhood-onset GD was relatively low following ATD treatment. Longer-term ATD therapy was associated with increased remission rate. Approximately 50% of patients with relapse had disease relapse within 1 year following ATD discontinuation.

Determination of Optimal Vitamin D Dosage in Children with Cholestasis.

BACKGROUND: Vitamin D deficiency in patients with cholestasis is due to impaired intestinal vitamin D absorption, which results from decreased intestinal bile acid concentration. Patients with cholestasis usually do not achieve optimal vitamin D status when a treatment regimen for children without cholestasis is used. However, data on high-dose vitamin D treatment in patients with cholestasis are limited. METHODS: This study is a prospective study that included pediatric patients with cholestasis (serum direct bilirubin > 1 mg/dL) who had vitamin D deficiency (serum 25-hydroxyvitamin D, 25-OHD, < 20 ng/mL). In Phase 1, single-day oral loading of 300,000 IU (or 600,000 IU if weight ≥ 20 kg) of vitamin D2 was administered, followed by an additional loading if serum 25-OHD < 30 ng/mL, and 4-week continuation of treatment using a vitamin D2 dose calculated based on the increment of 25-OHD after first loading. In Phase 2, oral vitamin D2 (200,000 IU/day) was administered for 12 days, followed by 400,000 IU/day of vitamin D2 orally for another 8 weeks if serum 25-OHD < 30 ng/mL. RESULTS: Phase 1: Seven patients were enrolled. Three out of seven patients had a moderate increase in serum 25-OHD after loading (up to 20.3-27.2 ng/mL). These patients had conditions with partially preserved bile flow. The remaining four patients, who had biliary atresia with failed or no Kasai operation, had low increments of serum 25-OHD. Phase 2: Eleven patients were enrolled. Eight out of 11 patients had a moderate increase in serum 25-OHD after 200,000 IU/day of vitamin D2 for 12 days. Serum 25-OHD continued increasing after administering 400,000 IU/day of vitamin D2 for another 8 weeks, with maximal serum 25-OHD of 15.7-22.8 ng/mL. CONCLUSION: Very high doses of vitamin D2 (200,000 and 400,000 IU/day) partly overcame poor intestinal vitamin D absorption and resulted in moderate increases in serum 25-OHD in pediatric patients with cholestasis, particularly when cholestasis was caused by uncorrectable bile duct obstruction.

Thyroid function and long-term outcomes of children born to mothers with Graves' disease: A 20-year review.

AIM: Thyroid dysfunction in infants born to mothers with Graves' disease (GD) is influenced by maternal factors including thyroid status, thyroid-stimulating hormone (TSH) receptor antibody (TRAb) concentration and antithyroid drug use. Thyroid dysfunction during early life could affect growth and development later in life. The aim of this study is to evaluate thyroid function tests (TFTs), and long-term growth and development of children born to mothers with GD. METHODS: A retrospective chart review of children born to mothers with GD at the Faculty of Medicine Ramathibodi Hospital, Mahidol University, between January 2000 and December 2019 was performed. Clinical data including age of children at enrolment, sex, gestational age, birthweight, maternal thyroid status, maternal TRAb level, maternal GD treatment during pregnancy, neonatal TSH screening and TFT results, and growth and development outcomes of children were collected. RESULTS: There were 262 children (148 males) enrolled. Twelve (4%) infants had neonatal GD. Five (2%) infants had hypothyroidism requiring levothyroxine treatment: four had secondary hypothyroidism and one patient had congenital primary hypothyroidism. Seven (3%) infants had transient TSH elevation, which fell to normal by 2 weeks of age. The remaining 238 children had normal TFT results. Three out of 12 children with neonatal GD had either delayed growth or development. CONCLUSIONS: A number of infants born to mothers with GD had abnormal TFTs requiring specific management, and some of them had abnormal growth and development. Careful evaluation of TFTs and long-term follow-up are mandatory for those children.

Beta cell function, incretin hormones, and incretin effect in obese children and adolescents with prediabetes.

BACKGROUND: Defects of incretin hormones and incretin effect may be underlying mechanisms of abnormal glucose metabolism in youth. OBJECTIVE: To assess incretin hormone dynamics during an oral glucose tolerance test (OGTT) and incretin effect in obese children with prediabetes in comparison with those with normal glucose tolerance (NGT). METHODS: Overweight and obese children were enrolled and classified according to OGTT results as NGT and prediabetes. Insulin sensitivity, insulin secretion, incretin hormone concentrations during OGTT; and incretin effect derived from OGTT and intravenous glucose tolerance test were determined and compared between NGT and prediabetes groups. RESULTS: Sixty-three patients (43 NGT and 20 prediabetes) were enrolled. Their median (interquartile range) age was 12.5 (11.1, 13.8) years. Peak glucagon-like peptide-1 (GLP-1) was demonstrated at 30 min during OGTT and was higher in the prediabetes group (49.2 [35.6, 63.6] versus 36.5 [27.6, 44.2] pmol/L, p = 0.009). However, incremental areas under the curves (iAUCs) of GLP-1 and glucose-dependent insulinotropic polypeptide (GIP) were not different between the two groups. There was no difference in incretin effect between NGT and prediabetes (NGT: 66.5% [60.2%, 77.5%] vs. prediabetes: 70.0% [61.5%, 75.0%], p = 0.645). Incretin effect had positive correlations with iAUCs of both GLP-1 and GIP (GLP-1: r = 0.40, p = 0.004 and GIP: r = 0.37, p = 0.009). CONCLUSIONS: Comparing between obese children with prediabetes and NGT, there were no differences in overall incretin hormone changes during OGTT and incretin effect. Incretin effect was positively correlated with iAUCs of GLP-1 and GIP.

Effect of vitamin D on lung function assessed by forced oscillation technique in asthmatic children with vitamin D deficiency: A randomized double-blind placebo-controlled trial.

BACKGROUND: The role of vitamin D and asthma in pulmonary function changes showed conflicting result. OBJECTIVE: To evaluate if vitamin D treatment would improve lung function assessed by forced oscillation technique (FOT) in vitamin D deficient asthmatic children. METHODS: A randomized double-blind placebo-controlled trial was performed in children, aged 3-18 years with well controlled asthma. Serum total 25(OH)D and FOT parameters including respiratory resistance at 5 Hz (R5), at 20 Hz (R20), respiratory reactance at 5 Hz (X5) and area of reactance (ALX), resonance frequency (Fres) were evaluated at baseline, 1 month and 3 months. Vitamin D deficient patients (serum total 25(OH)D < 20 ng/ml) were randomized to receive treatment with vitamin D2 (tVDD) or placebo (pVDD). Non-vitamin D deficient patients (nVDD) received placebo as a control group. RESULTS: A total of 84 children were recruited, 43 patients in nVDD group, 20 in tVDD group and 21 in pVDD group. There were no significant differences in age, sex, height and weight among groups. There were no significant differences of FOT parameters among groups at all visits. There was a trend toward decrease in R5/R20 from baseline to 1 month and 3 months visit in all groups, but the statistically significant improvement was observed only in nVDD group. Serum 25(OH)D showed no correlation with % predicted of FOT measures. CONCLUSIONS: Vitamin D treatment in asthmatic children who had vitamin D deficiency may have no short term beneficial effect on pulmonary function assessed by FOT. Vitamin D supplementation in all asthmatic patient needs further study.

Basal serum luteinising hormone cut-off, and its utility and cost-effectiveness for aiding the diagnosis of the onset of puberty in girls with early stages of breast development.

OBJECTIVE: To determine basal and gonadotrophin-releasing hormone analogue (GnRHa)-stimulated peak luteinising hormone (LH) cut-offs to diagnose onset of early or normal puberty in girls with each Tanner stage of breast (II and III). DESIGN, PATIENTS AND MEASUREMENTS: A retrospective study of 601 girls with breast onset before 8 years of age who underwent GnRHa test was conducted. Patients were categorized as CPP and premature thelarche. Each group was divided into two subgroups; Tanner II and III. Cost-effectiveness analysis was performed. RESULTS: In comparison with basal LH cut-off of 0.3 IU/L, basal LH cut-off of 0.2 IU/L had comparable specificity (Tanner II: 98.0% vs 94.8%, Tanner III: 98.8% vs 93.8%), but greater sensitivity (Tanner II: 28.3% vs 41.7%, Tanner III: 45.2% vs 59.3%). Specificity of basal LH cut-off of 0.2 IU/L was not inferior to that of the traditionally used peak LH of 5 IU/L. Using basal LH cut-off of 0.2 IU/L followed by GnRHa test in girls with negative basal LH was more cost-saving when compared with using the cut-off of 0.3 IU/L. Moreover, using basal LH cut-off of 0.2 IU/L followed by GnRHa test provided a cost reduction when compared with performing GnRHa test in all patients. CONCLUSIONS: Basal serum LH cut-off of 0.2 IU/L could be a simple and cost-saving tool for initial diagnosis of onset of early or normal puberty in girls with Tanner II and III before proceeding to GnRH testing.

Effect of Environmental Temperature on Serum Sodium Level in Hospitalized Non-critically Ill Children.

BACKGROUND: Intravenous hypotonic fluid administered in children is associated with an increased risk of developing hyponatremia. This finding has been reported from temperate countries where climate is relatively cold. But whether this risk also occurs in tropical countries has not been elucidated. OBJECTIVE: The objective of this study was to determine the relationship between environmental temperature and serum sodium in non-critically ill children. METHODS: A retrospective study. RESULTS: A total of 1061 hospitalized children were enrolled. Incidences of hyponatremia were not different between patients who received isotonic and hypotonic fluids (29% vs. 31%). Subgroup analysis showed a trend of higher incidence of hyponatremia in patients who received hypotonic fluid than isotonic fluid only in patients admitted to the air-conditioned wards (29% vs. 21%, p = 0.08). CONCLUSION: Children admitted to the air-conditioned wards who received hypotonic fluid seemed to carry a higher risk of developing hyponatremia than those admitted to the non-air-conditioned ward.

Skewed X chromosome inactivation in girls and female adolescents with autoimmune thyroid disease.

OBJECTIVE: Skewed X chromosome inactivation (XCI) was associated with female predominance in adult autoimmune thyroid disease (ATD). In normal females, skewed XCI is increased with age. Whether early-onset skewed XCI is associated with childhood ATD remains unknown. This study aimed to determine XCI skewing in paediatric ATD. DESIGN, PATIENTS AND MEASUREMENTS: Ninety-one female ATD patients, aged 3-20 years and 57 age-matched, female controls were enrolled. XCI was analysed by enzymatic digestion of DNA with methylation-sensitive enzymes followed by PCR of the polymorphic CAG repeat in the androgen receptor gene. Skewed XCI was defined as having 80% or greater of the cells preferentially inactivated on the same X chromosome. XCI pattern of the enrolled patients and parental origin of the skewed XCI were determined. RESULTS: After exclusion of samples with homozygous CAG repeats, skewed XCI was analysed in 83 patients (57 Graves' disease and 26 Hashimoto thyroiditis) and 52 controls. There was an increased frequency of skewed XCI in ATD patients as compared with the controls (23% vs 8%, P = 0.022). Patients with Hashimoto thyroiditis had greater frequency of skewed XCI than patients with Graves' disease (38% vs 16%, P = 0.023). There were no differences in clinical parameters between patients with skewed and random XCI. Analysis of 7 patients with skewed XCI showed a preferential inactivation of paternal X chromosome in 6 patients (86%). CONCLUSIONS: Frequency of skewed XCI was increased in childhood ATD. This observation suggests a possible association of skewed XCI in the development of paediatric ATD.

Serum glypican 4 level in obese children and its relation to degree of obesity.

OBJECTIVE: Previous adult studies have demonstrated associations of serum glypican 4 (Gpc4) and obesity parameters and insulin sensitivity. However, an association of serum Gpc4 and glucose metabolism remains contradictory. Study of serum Gpc4 in obese children has not been conducted. We aimed to determine serum Gpc4 levels in obese children with various degrees of obesity. DESIGN, PATIENTS AND MEASUREMENTS: Up to 370 overweight and obese children, aged 6-18 years were enrolled in this cross-sectional study. Oral glucose tolerance test (OGTT) was performed with fasting serum Gpc4, lipid profiles, aspartate aminotransferase (AST) and alanine aminotransferase (ALT) measured. Insulin sensitivity and ß-cell function indices were calculated from plasma glucose and serum insulin levels derived from the OGTT. Bioelectrical impedance analysis was performed for body fat determination. Comparisons of serum Gpc4 levels among the groups of children with various degrees of obesity were performed. RESULTS: Serum Gpc4 levels progressively increased in children with increasing body mass index standard deviation score (BMI SDS) tertiles [median (interquartile range, IQR): 2.3 (1.8, 3.2), 2.6 (1.9, 3.4) and 3.2 (2.4, 3.8) µg/L, P<.001]. There were no differences in serum Gpc4 levels among children in the different glucose metabolism categories. Log serum Gpc4 levels were positively correlated with SDSs of weight and BMI, cholesterol, AST and ALT. No associations of log serum Gpc4 and insulin sensitivity and ß-cell function indices were demonstrated. CONCLUSIONS: Serum Gpc4 levels were increased with increasing degrees of obesity. There were no differences in serum Gpc4 levels among glucose metabolism categories.

Effect of Iron Chelation Therapy on Glucose Metabolism in Non-Transfusion-Dependent Thalassaemia.

AIMS: To compare insulin sensitivity, ß-cell function and iron status biomarkers in non-transfusion-dependent thalassaemia (NTDT) with iron excess during pre- and post-iron chelation. METHODS: Subjects with NTDT, aged older than 10 years, with serum ferritin >300 ng/ml, were included. Iron chelation with deferasirox (10 mg/kg/day) was prescribed daily for 6 months. RESULTS: Ten patients with a median age of 17.4 years were enrolled. The comparison between pre- and post-chelation demonstrated significantly lower iron load: median serum ferritin (551.4 vs. 486.2 ng/ml, p = 0.047), median TIBC (211.5 vs. 233.5 µg/dl, p = 0.009) and median non-transferrin binding iron (5.5 vs. 1.4 µM, p = 0.005). All patients had a normal oral glucose tolerance test (OGTT) both pre- and post-chelation. However, fasting plasma glucose was significantly reduced after iron chelation (85.0 vs.79.5 mg/dl, p = 0.047). MRI revealed no significant changes of iron accumulation in the heart and liver after chelation, but there was a significantly lower iron load in the pancreas, assessed by higher T2* at post-chelation compared with pre-chelation (41.9 vs. 36.7 ms, p = 0.047). No adverse events were detected. CONCLUSIONS: A trend towards improving insulin sensitivity and ß-cell function as well as a reduced pancreatic iron load was observed following 6 months of iron chelation (TCTR20160523003).

Low cardiac output thyroid storm in a girl with Graves' disease.

A 15-year-old girl with Graves' disease presented with hypotension after methimazole and propranolol were re-started for hyperthyroidism. She was found to have pulmonary artery hypertension resulting in obstructive shock. Thyroid storm was diagnosed according to Burch and Wartofsky score. She was promptly treated with anti-thyroid drugs, inorganic iodide, corticosteroid, and respiratory support. Pulmonary hypertension was treated with inhaled nitric oxide until the clinical status improved. Propranolol was withdrawn due to poor cardiac function. We herein present a unique case of a difficult-to-treat Graves' disease presenting with severe pulmonary hypertension resulting in low cardiac output thyroid storm.

Serum fibroblast growth factor 21 in overweight and obese Thai children and adolescents: its relation to glucose metabolism and its change after glucose loading.

OBJECTIVES: Fibroblast growth factor 21 (FGF21) has been demonstrated to be beneficial for glucose metabolism in animal and in vitro studies. However, its role in humans is still unclear. This study aimed to determine serum FGF21 in relation to glucose metabolism in obese children and to evaluate serum FGF21 changes during an oral glucose tolerance test (OGTT). DESIGN, PATIENTS AND MEASUREMENTS: A cross-sectional study of 301 obese children was conducted in a tertiary hospital. All children underwent an OGTT and had their fasting serum FGF21 and adiponectin measured. A subgroup of 71 children had their serum FGF21 levels serially measured at 0, 60 and 120 min during the OGTT. RESULTS: Serum FGF21 levels were progressively increased in children with normal glucose tolerance without hyperinsulinaemia, normal glucose tolerance with hyperinsulinaemia and abnormal glucose tolerance [median (IQR): 72 (34-148), 96 (55-182), 122 (75-220) pg/ml, respectively, P = 0·003]. Log serum FGF21 was associated with homoeostatic model assessment of insulin resistance (r = 0·174, P = 0·002). There was no correlation between log serum FGF21 and serum adiponectin level. During the OGTT, there were changes in serum FGF21 levels with a decrease in FGF21 at 60 min from the baseline and an increase above the baseline at 120 min. CONCLUSIONS: Serum FGF21 level was highest in obese children with the highest insulin resistance or abnormal glucose tolerance. Log serum FGF21 was not correlated with serum adiponectin. Changes in serum FGF21 levels during the OGTT were observed.

Vitamin D deficiency and adrenal function in critically ill children.

BACKGROUND: Data on interrelationship between vitamin D deficiency (VDD) and adrenal insufficiency in critically ill children are limited. OBJECTIVE: To determine vitamin D status in critically ill children and its relationship with adrenal function. MATERIAL AND METHOD: Thirty-two patients and 36 controls were included. Serum 25-hydroxyvitamin D (25-OHD) levels were measured. Pediatric Risk of Mortality (PRISM) III score, outcome and adrenal function assessed by 1-microgram adrenocorticotropic hormone test were collected. RESULTS: Median (IQR) serum 25-OHD of thepatients was less than that of the controls (16.6 (13.3-19.5) vs. 24.2 (21.0-27.9) ng/mnL, p < 0.001). Twenty-five (78%) patients and seven (19%) controls had VDD. PRISM III score, proportions of patients with shock and vasopressive drug used, length of intensive care unit stay and ventilator used, and adrenal function were not different between patients with and without VDD. Patients with serum 25-OHD of less than 12 ng/mL had higher median (IQR) PRISM III score (14 (6-20) vs. 5 (2-10), p = 0.033) and higher proportion of mortality than those with serum 25-OHD of 12 ng/mL or greater. CONCLUSION: A greater proportion of VDD in critically ill children as compared with that of the controls was demonstrated. Serum 25-OHD was not associated with adrenal function.

Effects of correction of vitamin D insufficiency on serum osteocalcin and glucose metabolism in obese children.

OBJECTIVES: Osteocalcin (OCN) and vitamin D insufficiency (VDI) have been shown to be associated with abnormal glucose metabolism (GluMet). Whether correction of VDI affects serum OCN is unknown. This study evaluated the effects of correction of VDI on OCN and GluMet, and determined the associations of OCN with 25-hydroxyvitamin D (25-OHD) and GluMet. DESIGN, PATIENTS AND MEASUREMENTS: This study involved 230 obese children in a cross-sectional part and 72 participants in a prospective part in which children with VDI were treated with vitamin D2 at a dose of 20 000 IU daily for 28 days. All 230 children underwent an oral glucose tolerance test and had their serum total and undercarboxylated OCNs and 25-OHD measured. Forty of 72 children were reassessed for the GluMet and serum total and undercarboxylated OCNs and 25-OHD after the vitamin D2 treatment. RESULTS: In the prospective part, correction of VDI by raising mean (SD) 25-OHD of 51·5 (12·3) to 141·8 (40·8) nmol/l resulted in an improvement of their GluMet and increase in their whole-body insulin sensitivity index with no changes in their OCN measures. In the cross-sectional part, after adjustments for age, sex and puberty, the total (ß = 0·322) and undercarboxylated OCNs (ß = 0·315) were positively associated with insulinogenic index, which is an index of insulin secretion (P = 0·034 and 0·037, respectively) in the group of prediabetic and diabetic children. CONCLUSIONS: Correction of VDI increased insulin sensitivity and improved GluMet, but had no effect on serum OCN measures. OCN was associated with increased insulin secretion in children with abnormal GluMet.

Epidermal nevus syndrome with hypophosphatemic rickets in a young girl.

Epidermal nevus syndrome (ENS) is a rare congenital disorder. It is characterised by epidermal nevi and abnormalities of multiple organs, including central nervous system, skeleton, cardiovascular and genitourinary systems and eyes. Hypophosphatemic rickets-associated ENS has rarely been reported. We report a 46-month-old girl who presented with a classical feature of hypophosphatemic rickets. Examination of skin revealed multiple melanocytic nevi at her trunk, face and both arms with verrucous plaques at both axillae and neck, and yellow plaques at the back along Blaschko's lines. Histopathology of the skin lesions was compatible with epidermal nevi and nevus sebaceous. Therefore, the diagnosis of ENS was made. Apart from typical rickets, the skeletal X-rays interestingly displayed fibrous dysplasia-like lesions along right femur, tibia and fibula. Hypophosphatemic rickets was treated with alfacalcidol and phosphate solution. After 3 months of treatment, clinical improvement of hypophosphatemic rickets was clearly demonstrated. Her blood chemistries were normalised at 5 months following the treatment. In conclusion, hypophosphatemic rickets is a rare presentation of ENS. Our patient also demonstrated an additional abnormal bone finding, fibrous dysplasia-like lesions, associated with rachitic changes. This highlights heterogeneity of this condition and importance of thorough evaluation of patients with ENS.