Dumping syndrome, a cause of acquired glycogenic hepatopathy.

A 2-year-old boy, having undergone fundoplication for gastroesophageal reflux disease and fed by gastrostomy, presented with recurrent emesis, syncope with hypoglycemia, and persistently elevated serum liver transaminase levels. Liver biopsy revealed hepatocellular glycogenosis by light and electron microscopy. Further evaluation showed no evidence of diabetes mellitus, glycogen storage disease, or corticosteroid use. Since the hyperglycemic-hyperinsulinemic state of dumping syndrome would provide a mechanism for hepatocellular glycogenosis, the biopsy findings prompted consideration of dumping syndrome. Metabolic evaluation confirmed the diagnosis of dumping syndrome, and appropriate dietary management led to sustained resolution of symptomatology and hypertransaminasemia. Dumping syndrome is proposed to be a cause of hepatocellular glycogenosis, the latter representing a form of acquired glycogenic hepatopathy.

Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation.

Two unrelated young women presented with similar dysmorphic features including severe retrognathia, beaked nose, narrow chest, sloping shoulders, and an acrogeric appearance of the hands and feet. Neither had any evidence of skeletal myopathy, but both developed progressive dilated cardiomyopathy, both experienced premature ovarian failure, and both were found to have the same heterozygous novel missense mutation c.176T>G in exon 1 of the LMNA gene, resulting in a leucine to arginine change at codon 59 (Leu59Arg). Mutations in the LMNA gene cause a variety of disorders including dilated cardiomyopathy, muscular dystrophy, familial lipodystrophy, progeria, atypical progeroid syndromes, and mandibuloacral dysplasia. Genotype-phenotype correlation has been reported for some of these conditions. Our patients are the only ones known to have the specific mutation Leu59Arg and also share a set of features not entirely consistent with any of the laminopathies previously described. A previously reported patient with an adjacent mutation (Ala57Pro) had "atypical Werner syndrome" with dilated cardiomyopathy, hypogonadism, and sloping shoulders. While each of these clinical features does occur in other laminopathy syndromes, these patients form a phenotypic cluster distinct from other laminopathies and clinically overlapping with Malouf syndrome. LMNA sequencing should be considered for patients presenting with dilated cardiomyopathy and hypergonadotropic hypogonadism, including those previously diagnosed with Malouf syndrome.

Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency presenting as isolated premature thelarche.

A 19 month-old female presented with isolated premature thelarche and significantly advanced bone age. The underlying cause of this clinical presentation was found to be late-onset congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. To the author's knowledge this is the first reported case of late-onset CAH presenting as isolated premature thelarche.

Hemoglobin A1c in obese children and adolescents who participated in a weight management program.

AIM: The objective of this study was to compare hemoglobin A1c values in non-diabetic obese children and adolescents before enrollment and after completion of a 12-wk weight management program. METHODS: Seventeen children and adolescents, age 10.8+/-2.5 y (mean+/-1 SD), joined a multidisciplinary weight management program. Hemoglobin A1c and body mass index were measured at the start and at the completion of the program in each participant. RESULTS: Body mass index at the start of the program was 34.3+/-6.4 kg/m2. Body mass index at the end of the program was 33+/-6.6 kg/m2 (p<0.05). Hemoglobin A1c at the beginning of the program was 5.3+/-0.3%. Hemoglobin A1c at the completion of the program was 5+/-0.2% (p<0.05). CONCLUSION: In this group of overweight children, hemoglobin A1c decreased significantly after participating in a multi-disciplinary weight loss program. These findings further point to the beneficial effect of lifestyle changes on the metabolic status of obese children.

Abnormal amniotic fluid volume as a screening test prior to targeted ultrasound.

BACKGROUND: The purpose of this study was to examine (1) the association between amniotic fluid volume (AFV) and sonographically detected fetal structural anomalies, and (2) the effectiveness of using abnormal AFV as a screening test prior to patient referral for a targeted ultrasound. MATERIAL/METHODS: For singleton pregnancies in the 2nd and 3rd trimester frequencies of individual anomalies and odds ratios were calculated for each category of amniotic fluid volume relative to the frequency of anomalies with normal volume. The anomaly detection rate and frequency of referral for targeted ultrasound on the basis of abnormal amniotic fluid volume were calculated. RESULTS: 15,959 (92.0%) of patients had normal amniotic fluid volume, 537 (3.1%) decreased, 544 (3.1%) increased, 167 (1.0%) oligohydramnios, and 141 (0.8%) polyhydramnios. There were 365 (2.1%) fetuses with major structural anomalies. 1.8% of patients with normal AFV had anomalies. Anomalies were significantly more frequent in all categories of abnormal fluid: decreased (3.2%, OR 1.74, 95% CI 1.06-2.86), increased (5.7%, OR 3.22, 95% CI 2.2-4.71), oligohydramnios (9.0%, OR 5.26, 95% CI 3.09-9.05), and polyhydramnios (5.7%, OR 3.21, 95% CI 1.56-6.6). Referral for targeted ultrasound based on any abnormal AFV volume compared to only oligohydramnios or polyhydramnios increased the overall anomaly detection rate by nearly three-fold (19.5% vs. 6.3%), with minimal changes in the number of referrals per anomaly detected (13.4 vs. CONCLUSIONS: Referral for targeted ultrasound in the presence of even minor abnormalities of amniotic fluid would significantly improve anomaly detection with minimal increase in referrals.

Relationship between meconium staining and amniotic fluid volume in term pregnancies.

OBJECTIVE: Our purpose was to evaluate the relationship between meconium-stained amniotic fluid (MEC-AF) and amniotic fluid volume (AFV) and their impact on the risk of cesarean delivery for fetal indications in term pregnancies. METHODS: 1,655 live-born singleton gestations delivering at > or = 37 weeks within 7 days of sonographic assessment of the amniotic fluid index (AFI) were studied. AFI was categorized as: oligohydramnios (< or = 5.0 cm); decreased (5.1-8.0 cm); normal (8.1-18.0 cm); increased (18.1-23.9 cm), and polyhydramnios (> or = 24.0 cm). Frequencies of MEC-AF for each AFV category were stratified by gestational age (GA) and rates of cesarean delivery for fetal indications compared between patients with clear amniotic fluid and those with MEC-AF. Stepwise logistic regression analyses were performed for determinants of MEC-AF and the need for cesarean delivery for fetal indications. RESULTS: The frequency of MEC-AF at birth in term pregnancies was not related to AFV: oligohydramnios (16.7%); decreased (16.7%); normal (20.1%); increased (24.4%), and polyhydramnios (22.1%). The only factor associated with the occurrence of MEC-AF was increasing GA at delivery (p < 0.01). Both MEC-AF (p < 0.02) and decreasing neonatal ponderal index (p < 0.02) were independently associated with cesarean delivery for fetal distress. CONCLUSIONS: MEC-AF does not appear to be related to AFV in term pregnancies, and its presence increases the risk of cesarean delivery for fetal distress independent of AFV and neonatal ponderal index.