Chromosomal 1p Duplication in a Pediatric Patient: A Case Report.

Chromosomal 1p duplications are a rarity, with minimal literature on the topic. As a result, it is useful to document patient presentations with this defect to help guide the management and treatment of future patients with this genetic abnormality. We present a successful case report of a patient with a chromosome 1p31.3p31.1 duplication, including her initial presentation, the path to genetic testing, and patient outcome. Chromosomal duplication was found on genetic testing performed for failure to thrive and inability to meet her developmental milestones. The patient was significantly undernourished due to her feeding difficulties, leading to her presentation of altered mental status, growth arrest, dehydration, and hypoglycemia. Intervention in the form of a gastrostomy tube and fundoplication led to a significant improvement in the stability seen in the patient at the time of discharge. Long-term cognitive-linguistic treatment is required for continued neurological development. Only 11 publications currently exist regarding chromosome 1p duplication. However, none are specific to the 1p31.3p31.1 duplication, making this case report the first of its kind. Overlapping chromosomal 1p duplications have been described in patients with low birth weight and growth delays, palate abnormalities, intellectual disability, microcephaly, heart defects, and ambiguous genitalia. Despite the rarity of this duplication, it is essential to document these cases because if some of these genetic abnormalities are identified in more significant numbers, they can be conclusively linked to the patient's phenotype. In addition, the treatment plan played an instrumental role in stabilizing our patient's condition. It is also helpful to report the treatment plans so future clinicians who encounter this situation can utilize the successful treatment plans that most align with their patient's clinical presentation.

Prevalence and determinants of failure to thrive in children with vesico-ureteral reflux.

AIM: To assess the prevalence and determinants of failure to thrive (FTT) among patients with vesico-ureteral reflux (VUR) and evaluating the effects of supplementation on growth in patients with urinary solute losses. METHODS: We retrospectively enrolled 1277 patients with VUR (mean age at diagnosis = 6.5 months). Patients with FTT were screened for renal tubular function impairment (TFI). If fractional excretion of sodium (FENa) >2% or blood bicarbonate <20 mmol/L, supplementation was provided. RESULTS: Among 1277 patients, 56 (4.4%) had FTT. Of these, 42 (75%) presented extrarenal causes of FTT, 3 (5.4%) had chronic kidney disease (CKD), 9 (16.1%) had TFI, and 2 (3.5%) had CKD and TFI. FTT occurred in 8/208 patients (3.8%) with and in 48/1069 patients (4.5%) without (p = 0.68) recurrent urinary tract infections (UTIs). At multiple logistic regression, birthweight <10th percentile, preterm birth, TFI, identified or suspected syndromes and other diseases were predictors of FTT. Eleven (19.6%) patients with FTT had TFI; five with increased FENa and/or acidosis received supplementation and showed catch-up growth. The remaining six patients exhibited spontaneous catch-up growth. CONCLUSION: FTT was found in <5% of children with VUR. It was not determined by recurrent UTIs and was mainly associated with extrarenal causes. Supplementation with sodium and bicarbonates could be useful in selected cases.

Effects of higher dietary acid load: a narrative review with special emphasis in children.

Metabolic effects of high diet acid load (DAL) have been studied for years in adults, although only recently in children. Contemporary diets, especially those of Western societies, owe their acidogenic effect to high animal-origin protein content and low contribution of base-forming elements, such as fruits and vegetables. This imbalance, where dietary acid precursors exceed the body's buffering capacity, results in an acid-retaining state known by terms such as "eubicarbonatemic metabolic acidosis," "low-grade metabolic acidosis," "subclinical acidosis," or "acid stress". Its consequences have been linked to chronic systemic inflammation, contributing to various noncommunicable diseases traditionally considered more common in adulthood, but now have been recognized to originate at much earlier ages. In children, effects of high DAL are not limited to growth impairment caused by alterations of bone and muscle metabolism, but also represent a risk factor for conditions such as obesity, insulin resistance, diabetes, hypertension, urolithiasis, and chronic kidney disease (CKD). The possibility that high DAL may be a cause of chronic acid-retaining states in children with growth impairment should alert pediatricians and pediatric nephrologists, since its causes have been attributed traditionally to inborn errors of metabolism and renal pathologies such as CKD and renal tubular acidosis. The interplay between DAL, overall diet quality, and its cascading effects on children's health necessitates comprehensive nutritional assessments and interventions. This narrative review explores the clinical relevance of diet-induced acid retention in children and highlights the potential for prevention through dietary modifications, particularly by increasing fruit and vegetable intake alongside appropriate protein consumption.

Evaluating Malnutrition Practices and Mother's Education on Children Failure to Thrive Symptoms Using Entropy-Weight and TOPSIS Method.

BACKGROUND/OBJECTIVES: Failure to thrive (FTT) is mostly caused by insufficient consumption of nutrient-rich food, recurrent infections like diarrhea and intestinal worms, substandard caregiving practices, and limited availability of health and other vital services. Furthermore, there was a correlation between the educational level of mothers and the occurrence of FTT in children aged 6-12 months. Thus, the objective of the current research is twofold: (i) to investigate other factors related to FTT and (ii) to evaluate the impact of them on FTT in Sub-Saharan African countries and their urban areas. METHODS: We used weight entropy and TOPSIS methods to approach the research question. In particular, the entropy-weight method is effective for precisely evaluating the relative significance of the selected criteria for TOPSIS computation. Thus, data were retrieved from the database of UNICEF for the year 2019 for nine Sub-Saharan countries, and based on the methods used, five criteria have been selected for consideration. Those of mothers in higher education were identified as having a higher weight, which means that this can affect positively the ability of mothers to mitigate the situation of FTT and protect their children. RESULTS: The findings of the study highlight the factors of maternal education at a higher level and unhealthy habits as those with the greatest weight and impact on the FTT. Moreover, the results indicate that the association between maternal education, and especially higher education, and FTT is stronger in Ethiopia. Despite the limited amount of research on the specified relationship in Sub-Saharan countries, this study is among the initial ones to examine it. CONCLUSIONS: The current study can aid policymakers in devising appropriate policies and implementing effective measures to tackle FTT in Sub-Saharan Africa, like enhancing the number of mothers in these countries to be integrated into the educational system to help both themselves and their children mitigate or avoid the symptoms of FTT.

[Geriatric failure to thrive: between illusory diagnosis and clinical reality]. / Syndrome de glissement : entre diagnostic illusoire et réalité clinique.

The geriatric failure to thrive, a controversial French concept not present in the international literature, was first characterized by Jean Carrié in 1956. It is described as a process of aging and physical and psychological decline associated with advanced age, manifesting as a pronounced overall deterioration. In this case report, we present the case of an 88-year-old patient, admitted to a general medicine service for geriatric failure to thrive, whose management eventually leads to the diagnosis of endocarditis with digestive cancer complicated by a characterized depressive episode. This case prompts us to consider the geriatric failure to thrive with extreme caution and challenges the legitimacy of such a diagnosis in the context of an aging population and the progress of medical sciences.

Risk factors associated with underweight in children aged one to two years: a longitudinal study.

BACKGROUND: Underweight is a prevalent health issue in children. This study aimed to identify factors associated with underweight in children aged 1-2 years in Hamadan city. Unlike the studies conducted in this field, which are cross-sectional and do not provide information on the effect of age changes on underweight, our longitudinal approach provides insights into weight changes over time. On the other hand, this study focuses on the high-risk age group of 1 to 2 years, which has only been addressed in a few studies. METHODS: In this longitudinal study, 414 mothers with 1 to 2 year-old children referred to the health centers of Hamadan city, whose information is in the SIB system, a comprehensive electronic system, were examined to identify factors related to underweight. The response variable was weight-for-age criteria classified into three categories: underweight, normal weight, and overweight. A two-level longitudinal ordinal model was used to determine the factors associated with underweight. RESULTS: Of the children studied, 201 (48.6%) were girls and 213 (51.4%) were boys. Significant risk factors for underweight included low maternal education (AOR = 3.56, 95% CI: 1.10-11.47), maternal unemployment (AOR = 3.38, 95% CI: 1.05-10.91), maternal height (AOR = 0.85, 95% CI: 0.79-0.92), lack of health insurance (AOR = 2.85, 95% CI: 1.04-7.84), gestational age less than 24 years (AOR = 3.17, 95% CI: 16.28-0.97), child age 12-15 months (AOR = 2.27, 95% CI: 1.37-3.74), and child's birth weight (AOR = 0.63, 95% CI: 0.70-0.58). CONCLUSION: Based on the results of the present study, it seems that the possibility of being underweight among children is more related to the characteristics of mothers; therefore, taking care of mothers can control some of the weight loss of children.

Parents-reported nutrition and feeding difficulties in infants with congenital diaphragmatic hernia after hospital discharge.

PURPOSE: Congenital diaphragmatic hernia (CDH) affects 1 in 3000-5000 newborns. In survivors, long-term complications include gastroesophageal reflux (GER), feeding difficulties, and failure to thrive. Data from the parents' perspective remain scarce. This study aims to report the prevalence and impact of feeding difficulties on CDH families after discharge. METHODS: National web-based survey amongst families with CDH infants in 2021. RESULTS: Caregivers of 112 CDH survivors participated. The baseline characteristics were representative with 54 % male, 83 % left-sided CDH, prenatal diagnosis in 83 %, and 34 % requiring extracorporeal membrane oxygenation. Most infants (81 %) were discharged within three months, with 62 % feeding by mouth, and 30 % requiring a feeding tube. Persisting feeding difficulties were experienced by 73 %, GER being the most common (66 %), followed by insufficient weight gain (64 %). After discharge, 41 % received medical support for failure to thrive. The primary-care pediatrician was consulted most frequently for information (61 %) and treatment of feeding difficulties (74 %). Therapeutic success was reported in 64 %. A cessation of symptoms was achieved in 89 % within three years. CONCLUSION: The majority of CDH infants had persistent feeding difficulties. This survey highlights the impact surrounding feeding problems on CDH families. Further studies and support systems are needed to raise the quality of life in CDH infants and their families.

Clinical features associated with maternal uniparental disomy for chromosome 6.

BACKGROUND: Maternal uniparental disomy for chromosome 6 (upd(Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, et al. Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings. Am J Med Genet Part A. 2011;155 A(8):1996-2002.)mat) has been previously reported to cause intrauterine growth restriction (IUGR), but the specific clinical phenotype has not been defined. Based on clinical data from two new cases and patients from the literature, specific phenotypes and mechanisms will be discussed further. CASE PRESENTATION: In case 1, a maternal isodisomy mixed with a heterodisomy was found on chromosome 6, including a regional absence of heterozygosity between 6q23.3 and 6q27. In case 2, a homozygous SCUBE3 mutation and upd(Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, et al. Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings. Am J Med Genet Part A. 2011;155 A(8):1996-2002.)mat, involving the 6p21.1-25.1 region were found. Clinical data related to upd(Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, et al. Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings. Am J Med Genet Part A. 2011;155 A(8):1996-2002.)mat were also reviewed. Of all the 21 reported cases with upd(Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, et al. Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings. Am J Med Genet Part A. 2011;155 A(8):1996-2002.)mat (including our 2 cases), 18 (85.7%) presented IUGR. CONCLUSIONS: The phenotypes of the two newly identified patients with upd(Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, et al. Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings. Am J Med Genet Part A. 2011;155 A(8):1996-2002.)mat further suggest that IUGR is associated with upd(Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, et al. Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings. Am J Med Genet Part A. 2011;155 A(8):1996-2002.)mat and case 2 is the first reported upd(Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, et al. Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings. Am J Med Genet Part A. 2011;155 A(8):1996-2002.)mat patient with a homozygous SCUBE3 gene mutation. However, the specific phenotypes involved in upd(Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, et al. Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings. Am J Med Genet Part A. 2011;155 A(8):1996-2002.)mat and the related mechanisms need to be further studied.

Intracerebral Calcifications Associated with Failure to Thrive and Macular Degeneration in an Adolescent: A Case Report.

Background: The clinical picture of intracerebral calcification is so varied that it constitutes an essential element of a wide range of clinical syndromes of variable expression that continue to be described. In this article, we discuss the diagnostic possibilities of basal ganglia calcification considering the association of failure to thrive and macular degeneration in our patient. Case: A 17-year-old male patient of Congolese origin consulted us for a pyramidal syndrome consisting of upper limb tremors during mobilization and dysgraphia. The patient also presented with a distance vision disorder for which the ophthalmological examination revealed poor visual acuity in both eyes (2/10) and macular degeneration in the left eye. On physical examination, we noted a short stature with a small head circumference in relation to age. The brain scan revealed the presence of bilateral striato-pallidal calcifications giving the appearance of Fahr's disease. However, the association of delay of stature development with microcrania, macular degeneration with reduced visual acuity and basal ganglia calcifications could suggest a wide range of syndromic hypotheses, the most likely of which is Rajab-type cerebral calcification. Conclusion: The association of failure to thrive, macular degeneration, and cerebral calcification of the basal ganglia is revealed as a particular phenotype compared to cases reported in the literature. An in-depth analysis would be necessary to identify a possible genetic basis.

Approaches to nutrition and feeding in congenital diaphragmatic hernia.

In patients with congenital diaphragmatic hernia1, nutrition can represent a challenge both in the short and long term. Its failure to resolve can have a significant impact on multiple aspects of the lives of patients with congenital diaphragmatic hernia (CDH), ranging from lung function to neurodevelopment. In this review, we will describe the causes of nutritional problems in patients with CDH, their consequences, and possible strategies to address them.

Palliative care considerations in frail older adults.

Frailty is a common geriatric syndrome characterized by a decline in physical and cognitive abilities and an increased vulnerability to stressors such as illnesses and injuries. As the global population is aging, the prevalence of frailty is growing. Frail older adults are at substantial risk of developing mobility and self-care difficulties, hospitalization, and death. Frailty is also associated with a high symptom burden and psychosocial stress, including malnutrition, pain, fatigue, weakness, cognitive loss, depression, falls, and sleep disorders, among others. The role of palliative care is gaining attention in medical literature because frailty is associated with increased morbidity and mortality. While there are no specific guidelines yet for when palliative care should be consulted in older patients with frailty, it has been proposed that palliative care should be considered in frail patients with continued functional decline, increased healthcare utilization, and uncontrolled symptoms. Palliative care can aid in communication with patients and families, establishing goals of care and treatment preferences, improving pain and symptom control, addressing psychosocial and spiritual needs, advance care planning, caregiver needs, and end-of-life care. Once frailty is identified, a comprehensive evaluation of the patient's physical, psychosocial, and spiritual aspects of care is essential for establishing a patient-centered treatment plan. This paper aims to guide clinicians in providing patient-centered care for older adults with frailty in the outpatient setting. Through a comprehensive literature review, we describe the leading models of frailty, frailty screening tools used in the clinical setting, and the assessment and management of palliative care needs in frail patients. We also describe emerging models of care focusing on palliative care for older adults with frailty and discuss issues related to access to palliative care for this population.

[Geriatric failure to thrive: between illusory diagnosis and clinical reality]. / Syndrome de glissement : entre diagnostic illusoire et réalité clinique.

The geriatric failure to thrive, a controversial French concept not present in the international literature, was first characterized by Jean Carrié in 1956. It is described as a process of aging and physical and psychological decline associated with advanced age, manifesting as a pronounced overall deterioration. In this case report, we present the case of an 88-year-old patient, admitted to a general medicine service for geriatric failure to thrive, whose management eventually leads to the diagnosis of endocarditis with digestive cancer complicated by a characterized depressive episode. This case prompts us to consider the geriatric failure to thrive with extreme caution and challenges the legitimacy of such a diagnosis in the context of an aging population and the progress of medical sciences.

Autosomal Dominant Pseudohypoaldosteronism Type 1 in a Newborn With Failure to Thrive.

Pseudohypoaldosteronism type 1 is a rare genetic disorder characterized by salt wasting and resistance to mineralocorticoids due to mutations in the NR3C2 gene which codes for the aldosterone receptor proteins in the kidneys. This case study involves an infant who presented with poor growth and significant hyponatremia. There was improvement in growth and correction of hyponatremia with sodium supplementation, later found to carry a new genetic variant causing autosomal dominant pseudohypoaldosteronism type 1. A 14-day-old newborn presented with failure to thrive, severe hyponatremia, mild hyperkalemia, and metabolic acidosis. The electrolyte abnormalities were corrected with intravenous fluid and sodium supplementation. Continued oral sodium supplementation led to improved weight gain. Clinical suspicion and subsequent diagnostic testing led to a diagnosis of the autosomal dominant renal form of pseudohypoaldosteronism type 1. Genetic testing revealed a novel mutation on the NR3C2 gene, c.556_557del (p.Met186Valfs*3). The baby was discharged home on supplemental sodium and high-calorie formula for catch-up growth. Outpatient follow-up is ongoing.

Shwachman-Diamond syndrome mimicking mitochondrial hepatopathy.

Shwachman-Diamond syndrome (SDS) is a genetic disorder caused by mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene. The syndrome is characterized by multiorgan dysfunction primarily involving the bone marrow and exocrine pancreas. Frequently overlooked is the hepatic dysfunction seen in early childhood which tends to improve by adulthood. Here, we report a child who initially presented with failure to thrive and elevated transaminases, and was ultimately diagnosed with SDS. A liver biopsy electron micrograph revealed hepatocytes crowded with numerous small mitochondria, resembling the hepatic architecture from patients with inborn errors of metabolism, including mitochondrial diseases. To our knowledge, this is the first report of the mitochondrial phenotype in an SDS patient. These findings are compelling given the recent cellular and molecular research studies which have identified SBDS as an essential regulator of mitochondrial function and have also implicated SBDS in the maintenance of mitochondrial DNA.

A Case Report on Tricho-Hepato-Enteric Syndrome: The SKIC3 Gene in Focus.

Tricho-hepato-enteric syndrome (THES), also known as syndromic diarrhea, is a rare genetic disorder that causes intractable diarrhea, hair anomalies, facial dysmorphism, and liver abnormalities. Herein, we report the case of an eight-month-old male who was referred to our hospital due to symptoms of diarrhea, vomiting, and insufficient weight gain. The child was born via cesarean section following an uncomplicated pregnancy, with no history of admission to the neonatal intensive care unit (NICU). Since birth, the patient has been experiencing diarrhea and inadequate weight gain, necessitating multiple hospital admissions. Upon evaluation, genetic testing confirmed the diagnosis of THES. The management strategy included a variety of nutritional interventions and supportive care measures. Currently, the patient is in the pediatric intensive care unit (PICU), receiving total parenteral nutrition (TPN) and continuous supportive care. This case underscores the complexity of diagnosing and managing THES, highlighting the need for comprehensive care and close monitoring of the patient's condition.

Characteristics and Outcomes of Failure to Thrive in Pediatric Patients Referred to the King Abdulaziz Medical City Pediatric Clinic.

BACKGROUND: Failure to thrive (FTT) in pediatric populations is a diagnostic challenge with implications for growth and development. Despite its prevalence, detailed epidemiological data, especially concerning organic versus non-organic etiologies, are sparse. This study examines the prevalence, characteristics, and outcomes of organic and non-organic FTT in a pediatric outpatient setting at King Abdulaziz Medical City, Jeddah. METHODS: This retrospective chart review included pediatric patients aged three months to 14 years diagnosed with FTT at KAMC from 2016 to 2023. FTT was defined by weights below the 3rd percentile or a decline across two major growth percentiles. Patients were stratified into organic and non-organic FTT groups based on predefined criteria. Prevalence rates, clinical characteristics, and outcomes were compared to draw distinctions between the two categories. RESULTS: Out of 349 evaluated patients, organic FTT was present in 160 patients (45.8%), with gastrointestinal conditions and endocrine disorders being the most common etiologies. Non-organic FTT, accounting for 189 (54.2%) of cases, was primarily associated with inadequate nutritional intake and behavioral factors. Notably, the non-organic FTT group exhibited a significantly higher rate of condition resolution (45.0%) compared to their organic counterparts (32.5%). Furthermore, significant laboratory parameter differences were noted, indicating a higher white blood cell count in organic cases, among other findings. CONCLUSIONS: Non-organic FTT was more prevalent and demonstrated higher resolution rates, suggesting better outcomes with timely intervention and appropriate care strategies. The study advocates for increased educational efforts for caregivers and healthcare providers and calls for further research to explore effective management protocols for FTT.

Electrical Stimulation of Acupuncture Points Helps Resolve a Child's Failure to Thrive.

Background: Failure to thrive (FTT) is a challenging childhood condition that may lead to developmental delays and requires immediate therapeutic strategies. Children are diagnosed with FTT when their weight or rate of weight gain is significantly below that of other children of similar age and sex. A Pub Med literature search revealed no published acupuncture treatments for failure to thrive or faltering growth. Case: A 2 year, 4 month-old female was presented with FTT and a history of multiple severe congenital medical conditions. Western medical treatment with optimization of tube feeds achieved weight scores in the third-to-fifth percentile range. Acupuncture points were electrically stimulated for the child once monthly for 30 seconds with a Pointer Plus™ at each of 12 traditional Chinese/Shu Mu points and at several auricular points: Appetite, Stomach, Small Intestine, and Large Intestine bilateral. Results: The patient gained weight during the treatment, increasing monthly as shown on fully naked weight measurements to the 25th percentile, 28th percentile, 32nd percentile, 40th percentile, 46th percentile, 61st percentile, and 65th percentile. Her treatment was spaced to every 2.5 months after the 46th percentile measurement, and her weight started to level off when it reached the 61st percentile. Conclusions: In this particular case, electroacupuncture (EA) stimulation may have facilitated a weight gain in this female child. EA (nonneedle) research should be explored for FTT.

Infantile osteopetrosis with delayed development, organomegaly and wandering eyes: case report.

Osteopetrosis encompasses rare inherited metabolic bone disorders with defect in the osteoclast activity. Severe forms of presentation such as malignant infantile osteopetrosis are seen in infants and milder forms in older children. The clinical presentation includes failure to thrive, severe pallor, optic atrophy and hepatosplenomegaly. The disorder is characterised by dense bone on radiography, hence the name marble bone disease. A 10-month-old boy who presented with developmental delay, failure to thrive, nystagmus (which the mother described as wandering eye movements), splenomegaly of 16 cm and hepatomegaly of 8 cm. Investigations demonstrated severe anaemia (5.7 g/dL) and thrombocytopenia (34 x 109/L). Radiological signs which help in the diagnosis include diffuse sclerosis, bone within bone appearance, sandwich vertebrae and Erlenmeyer flask deformity. Plain radiography is an easily available and cost effective tool which can aid in the diagnosis of osteopetrosis.

A rare case of congenital insensitivity to pain with anhidrosis.

A 22-month-old girl of consanguineous parents was admitted with a high-grade fever. She was found to have insensitivity to painful stimuli and an absence of perspiration. She also displayed self-mutilating behaviour and was insensitive to cold/hot water on her body. On examination, there was loss of the tip of the tongue, missing teeth, generalised xerosis, and several ulcers at sites of minor trauma. She also had dysplastic nails and digital ulcers. Sensory examination demonstrated a complete lack of awareness of pain and temperature, vibration and fine touch were intact and lacrimation was normal. Differential diagnoses of hereditary sensory and autonomic neuropathy (HSAN), Lesch-Nyhan syndrome, hypohidrotic ectodermal dysplasia and leprosy were considered. Results of routine blood investigations including serum uric acid were normal. On performing clinical exome sequencing, the diagnosis of congenital insensitivity to pain with anhidrosis (CIPA) of autosomal recessive inheritance was confirmed. A novel, predicted to be pathogenic variant detected at exon 16 of the NTRK1 gene resulting in congenital insensitivity to pain with anhidrosis is reported.Abbreviations: CIPA: congenital Insensitivity to pain with anhidrosis; HSAN: hereditary sensory and autonomic neuropathy; NGF: nerve growth factor; NTRK1: neurotrophic tyrosine kinase receptor 1 gene; TrKA: tropomyosin receptor kinase A.