Chylomicron retention disease: a rare aetiology of failure to thrive.

The aetiology of failure to thrive (FTT) in children is broad, of which some conditions are extremely rare. It is important to consider these rarer conditions, especially in the setting of other concerning signs/symptoms or when there is no improvement with conventional treatment. In this case report we highlight such a rare condition-chylomicron retention disease (CRD) as an aetiology of FTT. CRD often presents with non-specific symptoms, resulting in delayed diagnosis which is established by genetic workup and histology from small intestinal biopsies. Despite being rare, CRD needs to be considered as one of the differential diagnoses after ruling out the more common causes of FTT.

Exploring Growth Failure in Neonates With Enterostomy.

AIM OF THE STUDY: Neonatal enterostomy is a known risk for growth failure. We hypothesized that episodes of inflammation may drive a catabolic state, exploring this by assessing serum biochemistry alongside growth trajectory in enterostomy patients. METHODS: A retrospective analysis of infants with histologically confirmed NEC from 01/2012-07/2021 in a tertiary neonatal surgical centre was performed. Change in weight-for-age Z-score (ΔZ) between stoma formation and closure was calculated. Serum CRP (C-reactive protein), urea, and creatinine levels were recorded and duration of elevated levels calculated as Area Under Curve (AUC). We examined for trends of serum levels rising together using intersecting moving averages. Spearman's correlation analysis was performed, while multivariable linear regression examined factors associated with ΔZ. RESULTS: 79 neonates were included. At stoma formation, median Z-score was -1.42 [range -4.73, +1.3]. Sixty-two patients (78 %) had a fall in Z-score during their time with a stoma, 16 (20 %) had a ΔZ less than -2. Urea AUC was significantly univariably correlated with ΔZ and remained statistically significant in a multivariable model (Exp(B) x 100 = -0.57[-1, -0.09]; p = 0.022). The number of biomarker peaks correlated significantly with ΔZ for urea (r = -0.25; p = 0.025) and CRP (r = -0.35; p = 0.0017) but not Creatinine (r = -0.21; p = 0.066). Analysing the number of peaks of any combination of variables coinciding was consistently significantly correlated negatively with ΔZ (r = -0.29 to -0.27; p ≤ 0.016 for all). CONCLUSION: Our data shows that infants who were more severely affected by growth failure had more frequent and severe uremia while they had a stoma (suggesting a catabolic state). Disturbances in urea were commonly associated with CRP, suggesting that inflammation is a significant factor in growth failure in these infants. These findings promote aggressive management of sepsis in these infants, as well as suggesting an earlier closure of stoma to minimise their "at-risk"' period.

Diencephalic Syndrome: Misleading Clinical Onset of Low-Grade Glioma.

BACKGROUND: Diencephalic Syndrome is an atypical early manifestation of low-grade gliomas; so, it is important to detect it in patients that experience a failure to thrive despite adequate length growth and food intake. The purpose of this article is to focus attention on this rare but potentially dangerous cause of poor weight gain or stunting in childhood. MATERIALS AND METHODS: We describe four patients with Diencephalic Syndrome and low-grade gliomas who were evaluated in our institution from January 2017 to December 2021. CASE DESCRIPTION AND RESULTS: two patients presented with suspected malabsorption, and two presented with a suspected eating disorder. In all cases, neurological symptoms appeared late, explaining the reason for the diagnostic delay, which impacts negatively on prognosis and on quality of life. Currently, patients 1 and 2 have stable disease in second-line therapy, patient 3 has stable disease post end of second-line therapy, and patient 4 has stable disease in first-line therapy. Everyone is in psychophysical rehabilitation. CONCLUSIONS: A multidisciplinary evaluation is essential in order to make an early diagnosis and improve prognosis and quality of life.

Intestinal hypomagnesemia in an Iranian patient with a novel TRPM6 variant: a case report and review of the literature.

TRPM6 is predominantly expressed in the kidney and colon and encodes a protein containing an ion channel domain and a protein kinase domain. It is crucial for magnesium homeostasis and plays important roles in epithelial magnesium transport and the active magnesium absorption. In this study, we present a 70-day-old Iranian female patient from consanguineous parents with hypomagnesemia and secondary hypocalcemia. She presented with seizures 19 days after birth and refractory watery non-bloody diarrhea. She consequently had failure to thrive. Other features included hypotonia, wide anterior fontanel, ventriculomegaly, and pseudotumor cerebri following administration of nalidixic acid. She had severe hypomagnesemia and hypocalcemia which were treated with magnesium and calcium supplementation. Despite initial unstable response to supplemental magnesium, she eventually improved and the diarrhea discontinued. The patient was discharged by magnesium and calcium therapy. At the last follow-up at age 2.5 years, the patient remained well without any recurrence or complication. Genetic testing by whole-exome sequencing revealed a novel homozygous frameshift insertion-deletion (indel) variant in exon 26 of the TRPM6 gene, c.3693-3699del GCAAGAG ins CTGCTGTTGACATCTGCT, p.L1231Ffs*36. Segregation analysis revealed the TRPM6 heterozygous variant in both parents. Patients with biallelic TRPM6 pathogenic variants typically exhibit hypomagnesemia with secondary hypocalcemia and present with neurologic manifestations including seizures. In some patients, this is also complicated by chronic diarrhea and failure to thrive. Long-term complications are rare and most of the patients show a good prognosis with supplemental magnesium therapy.

Diencephalic syndrome in childhood, a challenging cause of failure to thrive: miniseries and literature review.

The aim of our study was to better define the clinical pattern of diencephalic syndrome, a rare but potentially lethal cause of failure to thrive in infancy. Poor weight gain or weight loss, the characteristic presenting feature, often firstly attributed to gastrointestinal or endocrinological or genetic diseases, is secondary to a malfunctioning hypothalamus, caused by a diencephalic tumor. Due to its unexpected clinical onset, diagnostic delay and misdiagnosis are common. We described a case series of 3 children with diencephalic syndrome admitted at our Hospital, over a 5-year period. Furthermore, a narrative review on all pediatric cases published in the last seventy years was performed. Clinical pattern, timing to diagnosis, neuroimaging, management, and outcome were analyzed. Our three cases are singularly described in all clinical and diagnostic findings. Overall, 100 children were selected; all these cases as well as our children presented with failure to thrive: 96% had body mass index or weight-length/height ratio lower than 5th percentile. Vomiting and hyperactivity are reported in 35 and 26% of cases, respectively. The neurological features, mainly nystagmus reported in 43%, may occur late in the disease course. In conclusion, the diagnostic delay is the hallmark of diencephalic syndrome, confirming the lack of knowledge by clinicians. The poor weight gain/loss despite adequate length growth and food intake, especially in children with hyperactivity and good psychomotor development, should alert pediatricians towards this condition, before neurological signs/symptoms occurrence.

Prevalence and Associated Factors of Long-term Growth Failure in Infants with Congenital Heart Disease Who Underwent Cardiac Surgery Before the Age of One.

Long-term growth failure can have negative impact on health (by increasing morbidity and mortality) and on neurodevelopmental outcomes. Its prevalence among children with congenital heart disease (CHD) is not well described. The aim of our study was to evaluate the prevalence of growth failure in a population of infants with CHD away from cardiac surgery and identify associated factors. We conducted a retrospective and multicentric study that included infants from the North of France who underwent cardiac surgery before the age of one, between January 2013 and December 2017. 331 infants were included among which 48% had a prenatal diagnosis, 15% had a genetic syndrome, and 15% were premature infants. Mean birth weight was 3 ± 0.6 kg. At surgery, 35% presented feeding difficulties (need for enriched formula and/or feeding tube) and 14% had growth failure (defined by Z-score weight for age < -2SD). 6-12 months after surgery, 16% still presented growth failure. Several associated factors were identified: prenatal diagnosis, genetic syndrome association, birth weight ≤ 3 kg, complex CHD (≥ 2 significative lesions, or double outlet right ventricle or single ventricle physiology), surgery after 30 days, and need for diuretic drug before surgery and/or still needed 1 month after surgery. Growth failure persists between 6 and 12 months after surgery in 16% of infants with CHD. More studies are needed to link growth failure and neurodevelopment, which is the new challenge for this aging population.

Failure to thrive, oral intake, and inpatient status prior to gastrostomy tube placement in the first year of life is associated with persistent use 1-year later.

BACKGROUND: Gastrostomy tube (GT) placement is a common procedure in infants (≤1-year-old). There is variation in patient selection and a paucity of studies examining which patients require long term enteral access. The objective of this study was to assess demographic and clinical factors associated with persistent GT use (PGU) at 1-year after placement. METHODS: We performed a single-institution retrospective review of patients ≤1-year-old who underwent GT placement from January 31, 2014, and January 31, 2020, using institutional NSQIP-P data supplemented with chart review. Multivariable logistic regression analysis was performed to identify factors associated with PGU. Clinical predictors were selected a priori, and a p-value less than 0.05 was used to detect a significant association. RESULTS: 140 patients were included, and 118 had a 1-year follow-up. At 1-year following GT placement, 38 patients had weaned from their GT (32.2%). Failure to thrive (FTT), and inpatient admission prior to surgery are associated with increased odds of PGU at 1-year after surgery, OR: 5.19 and 6.02, respectively. There is an inverse association between the percentage of feeds taken by mouth at the time of surgery and the odds of PGU at 1-year (OR: 0.03). CONCLUSION: Patients who have FTT (documented prior to surgery) or an inpatient admission prior to GT had a higher odds of PGU at 1-year post-op. Additionally, the amount taken by mouth at the time of GT placement was inversely related to PGU. These factors are important in determining the need for a surgical gastrostomy tube. LEVEL OF EVIDENCE: II.

Interesting presentation of postnatal depression and infant failure to thrive.

This case report is of a woman in her 30s, 10 months post partum who was referred to Mother Baby Unit at a tertiary hospital with depressive symptoms including lowered mood, reduced self-care and motivation despite initiation of escitalopram 3 months earlier. In addition, her infant had non-organic failure to thrive mediated by decreased feeding and non-initiation of solids. On admission, her cognitive difficulties, blurred vision and reported loss of smell led to further neurological assessment and investigation with an MRI. Diagnosis of a frontal meningioma was made on the basis of the MRI finding of a 7 cm meningioma in the anterior cranial fossa. Surgical removal was successful which led to resolution of her depressive symptoms and improved parenting functioning. This case highlights the importance of considering organic causes of depression and non-organic causes of failure to thrive in infants.

Laryngomalacia in the Premature Neonate.

Laryngomalacia is the most common cause of stridor in newborns. Affected patients may present with noisy breathing, a classic high-pitched inspiratory stridor that worsens with feeding. While the exact etiology remains unclear, the condition is characterized by softening of the supraglottic structures, including the epiglottis, aryepiglottic folds, and arytenoid cartilages. The condition is most often self-limited and requires expectant management. However, in some infants, severe disease, including failure to thrive or respiratory distress, may require medical or even surgical intervention. When caring for premature neonates, special care is required to evaluate for synchronous airway lesions.

Severity of Airway Obstruction May Not Correlate With Weight Gain or Failure to Thrive in Infants With Robin Sequence: A Pilot Study.

OBJECTIVE: Patients with Robin sequence (RS) can present with varying degrees of upper airway obstruction, difficulty maintaining adequate weight gain, and failure to thrive (FTT). Although inductive reasoning would suggest that these issues should be interrelated, the relationships between these factors have not been formally studied. This investigation explores the correlation between polysomnographic (PSG) findings, weight gain, and FTT in patients with RS. DESIGN: A prospective database for baseline PSG parameters and serial weight measurements in infants with RS who were admitted for airway obstruction was reviewed. The association between PSG variables and calorie intake with FTT was assessed using univariate and multivariable logistic regression. Categorical analysis of the PSG variables against FTT was explored with a Poisson regression, and linear regression was performed to evaluate the correlation between PSG parameters and percentage of weight gain. RESULTS: Univariate and multivariate logistic regression in RS patients with (n = 13) and without (n = 20) FTT showed no significant association between apnea-hypopnea index (adjusted odds ratio [aOR]: 0.99, P-value = 0.403), O2 nadir (aOR: 0.98, P-value = 0.577), time of O2 saturation below 90% (aOR: 1.03, P-value = 0.574), maximum end tidal carbon dioxide (aOR: 1.0, P-value = 0.977), and average calorie intake (OR:1.02; P-value = 0.984). Furthermore, no significant associations were identified between these variables and weight gain. CONCLUSIONS: This pilot study questions the widely held and intuitively logical belief that poor weight gain and/or FTT should correlate with the severity of upper airway obstruction in patients with RS. Large prospective investigations should be initiated to better explore the authors' findings. Our results also underscore the importance of individualized treatment for these challenging patients.

Poor Weight Recovery Between Stage 1 Palliation and Hospital Discharge for Infants with Single Ventricle Physiology: An Analysis of the National Pediatric Cardiology Quality Improvement Collaborative Phase II Dataset.

OBJECTIVE: To investigate change in weight-for-age z-scores (WAZ) and risk factors for impaired weight gain between stage 1 palliation (S1P) for single ventricle physiology and discharge. STUDY DESIGN: This was a secondary analysis of the National Pediatric Cardiology Quality Improvement Collaborative Phase II database. The primary outcome was change in WAZ between S1P and discharge. Risk factors were selected using multivariable mixed effects regression constructed by step-wise model selection, with adjustment for WAZ at S1P and a random effect for center. RESULTS: Of 730 infants who were discharged after S1P, WAZ decreased in 98.6% (-1.5 ± 0.7). WAZ at discharge was <-1 but >-2 (at risk) in 40% and <-2 (failure to thrive) in 35% of participants. Males, higher WAZ at S1P, non-S1P procedures (mostly noncardiac), increased length of stay, necrotizing enterocolitis, and angiotensin-converting enzyme inhibitor use at discharge were associated with a greater decrease in WAZ. Preoperative enteral feeding and respiratory medications were associated with a lesser decrease in the WAZ. CONCLUSIONS: Nearly all infants lose weight after S1P with little recovery by hospital discharge. At discharge, three-quarters of the infants in the cohort were at risk for impaired weight gain or had failure to thrive. Most risk factors associated with change in WAZ were unmodifiable or surrogates of disease severity. Novel interventions are needed to minimize the early catabolic effects and promote anabolic recovery after S1P.

Growth Delay in Inflammatory Bowel Diseases: Significance, Causes, and Management.

Growth delay with height and weight impairment is a common feature of pediatric inflammatory bowel diseases (PIBD). Up to 2/3 of Crohn Disease patients have impaired weight at diagnosis, and up to 1/3 have impaired height. Ulcerative colitis usually manifests earlier with less impaired growth, though patients can be affected. Ultimately, growth delay, if not corrected, can reduce final adult height. Weight loss, reduced bone mass, and pubertal delay are also concerns associated with growth delay in newly diagnosed PIBD patients. The mechanisms for growth delay in IBD are multifactorial and include reduced nutrient intake, poor absorption, increased fecal losses, as well as direct effects from inflammation and treatment modalities. Management of growth delay requires optimal disease control. Exclusive enteral nutrition (EEN), biologic therapy, and corticosteroids are the primary induction strategies used in PIBD, and both EEN and biologics positively impact growth and bone development. Beyond adequate disease control, growth delay and pubertal delay require a multidisciplinary approach, dependent on diligent monitoring and identification, nutritional rehabilitation, and involvement of endocrinology and psychiatry services as needed. Pitfalls that clinicians may encounter when managing growth delay include refeeding syndrome, obesity (even in the setting of malnutrition), and restrictive diets. Although treatment of PIBD has improved substantially in the last several decades with the era of biologic therapies and EEN, there is still much to be learned about growth delay in PIBD in order to improve outcomes.

Vallecular cyst: a dangerous cause of failure to thrive in infants.

A 2-month-old full-term female infant with medical history of situs inversus totalis presented to the emergency department with congestion and abnormal breathing. She was discovered to have failure to thrive (FTT) and subsequently admitted. Investigations revealed a large vallecular mass at the base of her tongue which was noted to cause severe, intermittent airway obstruction. The mass underwent marsupialisation by otolaryngology (ENT) and pathology confirmed a diagnosis of vallecular cyst. The patient made a full recovery and is now growing and thriving. This case emphasises the need to consider anatomic airway abnormalities in the differential diagnosis of young infants with the constellation of respiratory symptoms and FTT. Such airway abnormalities can cause life-threatening airway obstruction if not discovered.

Emotional Deprivation in Children: Growth Faltering and Reversible Hypopituitarism.

Emotional deprivation can lead to growth faltering of infants and children. The mechanism(s) involved differ in that for infants, the major metabolic problem is inadequate energy intake for growth. In young children, it is likely that the emotional deprivation causes a syndrome not only of growth faltering, but with bizarre behaviors, especially with regard to food: hoarding, gorging and vomiting, hyperphagia, drinking from the toilet, and eating from garbage pails. Other disturbed behaviors include, poor sleep, night wanderings, and pain agnosia. The pathophysiology appears to be reversible hypopituitarism, at least for the growth hormone and hypothalamic-pituitary- adrenal axes. The review begins with an historical perspective concerning stress, children and growth and then moves to the issue of hospitalism, where young infants failed to thrive (and died) due to inadequate stimulation and energy intake. Refeeding programs at the end of World Wars I and II noted that some children did not thrive despite an adequate energy intake. It appeared that in addition taking care of their emotional needs permitted super-physiologic (catch-up) growth. Next came the first notions from clinical investigation that hypopituitarism might be the mechanism of growth faltering. Studies that address this mechanism from a number of observational and clinical research studies are reviewed in depth to show that the hypopituitarism was relieved upon removal from the deprivational environment and occurred much too quickly to be due to adequate energy alone. These findings are then compared to those from malnourished children and adoptees from emerging countries, especially those from orphanages where their psychosocial needs were unmet despite adequate caloric intake. Together, these various conditions define one aspect of the field of psychoneuroendocrinology.

The Impact of Oral Sodium Chloride Supplementation on Thrive and the Intestinal Microbiome in Neonates With Small Bowel Ostomies: A Prospective Cohort Study.

Background: Infants with ileostomies often suffer from sodium depletion, ultimately leading to a failure to thrive. Moreover, early-infantile microbial dysbiosis may potentially aggravate weight faltering. Given that sodium supplementation has been used to restore weight gain and feeding practices largely determine infantile microbiota, the current study investigated the effect of sodium chloride (NaCl) on weight gain and intestinal microbiome in infants with jejuno- and ileostomies. Methods: A prospective cohort study including 24 neonates with enterostomies compared 19 subjects receiving oral NaCl (5.85%) to five subjects without supplementation with respect to postoperative changes in thrive and the intestinal microbiome. Results: Infants receiving NaCl after enterostomy-surgery showed vastly improved weight gain and an increased abundance of Lactobacillus in fecal samples, as compared to subjects without oral supplement who displayed decreasing percentiles for weight and did not reveal a higher abundance of probiotic strains within the ostomy effluent. Contrarily, Klebsiella was equally enriched in supplemented infants, reflecting a higher susceptibility for infections in preterm neonates. Discussion: Our findings support oral NaCl supplementation as a mainstay of postoperative treatment in infants with small bowel ostomies who are predisposed to suffer from a sodium depletion-associated failure to thrive. Not only does NaCl promote weight gain by increasing glucose resorption, but it also appears to induce microbial restoration by enhancing the abundance of health-promoting probiotic bacteria. This finding has an even greater significance when facing an elevated Klebsiella/Bifidobacteria (K/B) ratio, believed to represent an early-life microbial biomarker for development of allergic disease.

Absent left common carotid artery in a right aortic arch: Separate origins of left internal and external carotid arteries from brachiocephalic artery.

We present a case of cyanotic congenital heart disease with left common carotid artery agenesis in the setting of the right aortic arch highlighting the potential implications in management.

Megaloblastic anaemia in a 9-weeks old infant: A case report.

Megaloblastic anaemia due to vitamin B12 and folic acid deficiency is uncommon in infancy and rarely reported in infants below 3 months of age. We hereby report a case of megaloblastic anaemia in a 9-weeks old infant having fever from 7th week of life. Blood picture showed pancytopenia and diagnosis was confirmed on bone marrow biopsy and serum level of vitamins. Patient positively responded to vitamin B12 and folic acid supplementation. Infants with pancytopenia even younger than 2 months, should also be investigated for vitamin B12 and folate deficiency. Mother of the baby was not antenatally investigated for anaemia. Prompt antenatal diagnosis and treatment of mothers can reduce the incidence in the infants.