Germline mutations in the SLC29A3 gene result in a range of recessive, clinically related syndromes: H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome, Faisalabad histiocytosis, and sinus histiocytosis with massive lymphadenopathy. The main symptoms of these diseases are hyperpigmentation with hypertrichosis, sensorineural deafness, diabetes, short stature, uveitis, and Rosai-Dorfman like histiocytosis. Here, we report the case of an 11-month-old boy with early-onset, recurrent episodes of unprovoked fever lasting 7 to 10 days and associated with pericardial effusion, abdominal pain, diarrhea, and inflammation. Physical examination revealed hyperpigmentation with hypertrichosis, dysmorphic features, and spleen and liver enlargement. Failure to thrive, sensorineural deafness, retarded psychomotor development, and a Rosai-Dorfman like cheek lesion developed subsequently. The febrile episodes did not respond to tumor necrosis factor α antagonists and interleukin-1. Sequencing of the SLC29A3 gene revealed a homozygous missense mutation c.1088G>A (p.Arg363Gln). These observations suggest that a newly identified mutation in the SLC29A3 gene may be associated with an autoinflammatory disorder. Genetic defects in SLC29A3 should be considered in patients with autoinflammatory manifestations, recurrent febrile attacks, and 1 or more of the symptoms found in the broad spectrum of SLC29A3-related disorders (especially hyperpigmentation with hypertrichosis).

To evaluate whether admission day of the week affects the length of stay (LOS) and health care costs for failure to thrive (FTT) admissions.Administrative data were obtained for all children aged <2 years (N = 23 332) with a primary admission diagnosis of FTT from 2003-2011 from 42 freestanding US hospitals. Demographic characteristics, day of admission, LOS, costs per stay, number of discharge diagnoses, primary discharge diagnoses, primary procedure code, number of radiologic and laboratory units billed during admission were obtained for each admission. Linear regression and zero-truncated Poisson regression were used for analysis.Weekend admission was significantly correlated with increased LOS and increased average cost (P < .002). This finding was also true for children with both admission and discharge diagnoses of FTT (P < .001). The number of procedures for children admitted on the weekend was not significantly different compared with children admitted on the weekdays (incident rate ratio [IRR]:1.04 [95% confidence interval (CI): 0.99-1.09]). However, weekend admissions did have more radiologic studies (IRR: 1.13 [95% CI: 1.10-1.16]) and laboratory tests (IRR: 1.39 [95% CI: 1.38-1.40]) performed. If one-half of weekend admissions in 2010 with both admission and discharge diagnoses of FTT were converted to Monday admissions, total savings in health care dollars for 2010 would be $534, 145.Scheduled FTT admissions on weekends increased LOS and health care costs compared with weekday admissions of similar levels of complexity. Reduction in planned weekend admissions for FTT could significantly reduce health care costs.

Postnatal growth restriction and failure to thrive still remain a major problem in Extremely Low Birth Weight (ELBW) infants . The goal for the nutritional care of these infants is to achieve rate of growth similar to those of the fetus in utero at the equivalent gestational age. Human milk fortified remains the best food for all these preterms. Two groups of preterm of weight 580-1250 g and gestational age 23-32 wk, were fed with different protein intake in the human/maternal milk fortified ( 3,5 g Kg-1 per day and 4,8 g Kg-1 per day in the control and intervention group respectively).The feeding tolerance, intrahospital growth, neurological outcome and anthropometric data until 12 months of corrected age, were evaluated. The protein supplemented group (PSG) showed an intrahospital highter growth rate ( mostly in head circumference, p 0,02, and length growth, p 0,04) only in the preterms with 580-980 g and 23-30 wk. In the same preterms, Griffith Development Mental Score at 3 and 12 months corrected age showed higher score than in the control group in the Performance (p 0,04) and Hearing/Language (p 0,03) items. The auxological evaluation in the postdischarge period showed in the PSG group mean z-score values for length higher than those in the control group at 9 (p 0,04) months of corrected age.

Vascular hemangiomas are considered to be a common finding among neonates and infants. The presence of five or more cutaneous hemangiomas may carry a higher incidence of multiple organ involvementAn eleven week old female infant with high cardiac output heart failure and multiple cutaneous hemangiomas was referred to our clinic. Soon after birth she failed to gain weight and developed breathlessness. There was partial response to Captopril and Frusemide therapy, with development of a progressive cough. Echocardiogram and liver and brain ultrasound scans revealed heart chamber enlargement, multiple liver hemangiomas and an isolated cerebellar arterio-venous malformation (AVM). Supportive treatment for congestive heart failure combined with propranolol therapy resulted in rapid clinical response and recovery.The diagnosis of Diffuse Neonatal Hemangiomatosis in infants with failure to thrive and symptoms of heart failure raises the possibility of internal organ involvement. Augmentation of propranolol in such cases may cause regression of Hemangiomatosis with patient clinical improvement.We report our experience with a single patient of Hemangiomatosis induced heart failure which responded to propranolol combined with medication to control heart failure and failure to thrive prevention. This treatment should be further evaluated with special attention to potential adverse effects, tolerance and compliance.

This study describes a cblE type of homocystinuria associated with haemolytic-uremic syndrome (HUS) features. We report on a male infant aged 43 days presenting with failure to thrive, hypotonia, pancytopaenia, HUS symptoms (microangiopathic haemolytic anaemia and thrombocytopaenia with signs of renal involvement) and fatal evolution. An underlying cobalamin disorder was diagnosed after a bone marrow examination revealed megaloblastic changes associated with hyperhomocysteinaemia. An urinary organic acid analysis revealed normal methylmalonic acid excretion. The cblE diagnosis was confirmed with a complementation analysis using skin fibroblasts and genetic studies of the MTRR gene. The patient treatment included parenteral hydroxocobalamin, carnitine, betaine and folinic acid, but there was no response. After the autopsy, the histopathological examination of the kidneys showed marked myointimal proliferation and narrowing of the vascular lumen. The central nervous system showed signs of haemorrhage that affected the putamen and the thalamus; diffuse white matter lesions with spongiosis, necrosis and severe astrogliosis were also observed. Microangiopathy was observed with an increase in vessel wall thickness, a reduction of the arterial inner diameter and capillary oedema. The signs of necrosis and haemorrhage were detected in the cerebellum, the cerebellar peduncles, the tegmentum and the bulbar olives.In conclusion, cblE should be considered when diagnosing patients presenting with HUS signs and symptoms during the newborn period. Despite early diagnosis, however, the specific treatment measures were not effective in this patient.

The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital anomaly/mental retardation syndrome caused by a defect in cholesterol synthesis. Affected individuals have dysmorphism, short stature, failure to thrive, microcephaly, multiple congenital malformations, and mental retardation. Diagnostic biochemical features include low plasma cholesterol levels and elevated levels of cholesterol precursors, including 7-dehydrocholesterol (7DHC).The aim of this study is to report a case of SLOS with hypercortisolism and hypothyroidism.This is a case report from the genetic and metabolic unit of a tertiary care teaching hospital in north India.A 5-month-old male child presented with progressively increasing weight since birth. On examination, he had cyanosis, facial dysmorphism, obesity, bilateral cryptorchidism, hypospadias, inverted nipples, and systolic murmur over the left parasternal area. Investigations revealed a decreased serum cholesterol and elevated 7DHC. His serum cortisol and adrenocorticotropic hormone levels were elevated, and there was suppression of cortisol after the high-dose dexamethasone test. Magnetic resonance imaging of the brain and the pituitary region was normal. The thyroid-stimulating hormone was also elevated. Echocardiography revealed a double-outlet right ventricle with ventricular septal defect and pulmonary stenosis.SLOS is an inborn error of cholesterol synthesis associated with failure to thrive and malformations involving almost all the systems of the body. The occurrence of hypercortisolism, hypothyroidism, obesity, and complex cyanotic cardiac lesion in association with SLOS has not been described earlier.

Vitamin D intoxication in infancy leads to acute hypercalcemia and subsequent hypercalcuria with nephrocalcinosis. Strategies used for patients with vitamin D intoxication are unsatisfactory and associated with prolonged periods of hypercalcemia. We present a 5-month-old infant who had failure to thrive, refusal to feed, delayed motor development, truncal hypotonia, and dehydration. She had high plasma sodium and osmolality with low urine osmolality, and did not respond to intravenous desmopressin administration. She was diagnosed as nephrogenic diabetes insipidus due to hypercalcemia caused by hypervitaminosis D, and was treated with hydrochlorothiazide 2 mg/kg twice daily, and hydration.

Costello syndrome is a rare genetic condition characterized by coarse facies, short stature, loose folds of skin especially on hands and feet, severe feeding difficulties and failure to thrive. Other features include cardiac anomalies, developmental disability and increased risk of neoplasms. Given the link between oxidative stress (OS) and carcinogenesis, we tested the hypothesis that OS occurs in this syndrome, supposing its role both in cancer development and in other clinical features.We describe four cases with Costello syndrome in which we verified the presence of OS by measuring a redox biomarker profile including total hydroperoxides, non-protein-bound iron, advanced oxidation protein products, thyols, carbonyl groups and isoprostanes. Thus, we introduced an antioxidant agent, namely potassium ascorbate with ribose (PAR) into the therapy and monitored the redox profile every three months to verify its efficacy.A progressive decrease in OS biomarkers occurred, together with an improvement in the clinical features of the patients.OS was proven in all four cases of Costello syndrome. The antioxidant therapy with PAR demonstrated positive effects. These promising results need further research to confirm the relevance of OS and the efficacy of PAR therapy in Costello syndrome.

Failure to thrive (FTT) is a common issue in practice. The definition of FTT differs among authors and among practices. FTT is usually categorized into organic vs. non-organic. This paper is a review of different articles that contains the terms "failure to thrive". A Review of articles was performed using Pub med and different journal websites. This article discusses the different definitions of FTT, the prevalence , the assessments , together with information on management. The initial step in managing an infant or child with FTT is to identify the cause whether it is "organic" or " non organic". An appropriate encounter would be by having a system-based approach. In addition to the pediatrician's skills in medical diagnosis and management, there is a need for evaluation of the child's temperament and development, oromotor functioning, nutritional needs and deficits, and family and social support systems.