فهرست مطالب

Caspian Journal of Pediatrics
Volume:9 Issue: 1, Mar 2023

  • تاریخ انتشار: 1401/12/10
  • تعداد عناوین: 17
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  • Rajithasundaran Annapoorneswary, Krishnaswami Devi Meenakshi*, Sridevi A Naaraayan Page 1
    Background and Objective

    Neonatal sepsis is associated with high mortality and has a favourable outcome when recognized and treated in a timely manner. In resource-limited settings, there is need for an affordable test with a short turnaround time for timely diagnosis of sepsis. The study was aimed to find out the role of eosinopenia and neutrophil-to-lymphocyte ratio (NLR) in screening for early-onset sepsis (EOS) and to determine the cut-off point for absolute eosinophil count (AEC) and NLR to predict early-onset neonatal sepsis.

    Methods

    This descriptive study was conducted on neonates with suspected EOS at Medical College Hospital, Chennai, Tamil Nadu, India. Complete blood count, C-reactive protein, blood culture, and antibacterial sensitivity were assessed, and neonates with laboratory evidence of sepsis were considered as EOS group. AEC and NLR were compared between groups. Specificity, sensitivity, positive predictive value (PPV) and negative predictive value (NPV) were calculated. Receiver operating characteristic (ROC) analysis was performed. The median value of AEC and NLR was compared with the Mann -Whitney test.

    Findings

    Among the 140 neonates studied, 72(51.4%) had low birth weight. The absolute neutrophil count was higher (8954 vs. 7322) and the absolute lymphocyte count (3040 vs. 5593) and platelet count were lower in sepsis (126074 vs. 239151). Eosinopenia with cut-off point of 194.5 and NLR with a cut-off point of 1.565 had higher sensitivity than specificity and a high negative predictive value (NPV).

    Conclusion

    It can be concluded that eosinopenia and NLR are useful tools in the diagnosis of early -onset sepsis.

    Keywords: Eosinophils, Neonatal sepsis, Neutrophils, Lymphocytes
  • Ankur Joshi, Swati Mulye, Purti Agrawal Saini, Garima Agrawal Varshney* Page 2
    Background and Objective

    Sickle cell disease is a chronic, inherited disease with many complications that worsen the quality of life (QoL) of patients. Although psychosocial problems are common in these patients, they receive the least attention from parents and caregivers. The aim of the present study was to evaluate the psychosocial problems and QoL of children and adolescents with sickle cell disease.

    Methods

    A cross-sectional study was conducted on 30 patients with sickle cell disease in an Indian tertiary teaching hospital between September 2019 and April 2020. Social and psychological aspects were assessed using the PSC-35 scoring system. To assess the QoL, the current study used a self-designed questionnaire including main psychological, physical, and social domains of the World Health Organization Quality of Life Brief Version (WHOQOL-BREF) scale.

    Findings

    The mean age of the participants was 8.86 (SD ± 4.54 years) with a range between 2 and 18 years. Among sociodemographic variables, older age, number of hospitalizations, blood transfusions and pain episodes per year were significantly associated with some QoL variables. Although none of the participants in the present study suffered from depression, higher scores on the PSC-35 score were significantly associated with some QoL variables.

    Conclusion

    Multiple admissions, transfusions, and pain episodes negatively affect the QoL of children and adolescents with sickle cell disease. Because some QoL variables may serve as early predictors of depression, it is recommended to regularly assess the QoL in these children.

    Keywords: Mental Health, PSC score, Psychological Problems, Quality of life, Sickle cell disease
  • Amanollah Zarei Ahmady, Neda Mohtasham*, Mitra Ahmadi, Nader Shakiba-Maram, Nader Shafiei Page 3
    Background and Objective

    Acute gastroenteritis in children is a major cause of morbidity in the world. This study investigated the effect of suspension prepared from date seed in reducing the severity and duration of diarrhea in gastroenteritis pediatrics.

    Methods

    Participants in this clinical trial study comprised 140 gastroenteritis pediatrics referred to Abuzar Children’s Hospital in Ahvaz. Eligible patients were randomly assigned to experimental and control groups. The intervention group was given 5% date seed suspension in the amount of 12 mg/kg of body weight orally once every 8 hours for 7 days; the control group was administered a placebo three times a day. Then the two groups were compared for severity and duration of diarrhea as well as stool volume.

    Findings

    The duration and severity of diarrhea were significantly less in children in the intervention group than in the control group (p<0.05). The mean duration of diarrhea in the intervention and control groups was 3.508±1.102 and 4.680±4.001 days, respectively. The mean severity of diarrhea, decreased at 24 hours (2.0857±0.607; 1.8571±0.747), 48 hours (1.7429±0.695; 1.2571±0.695), 72 hours (1.1000±0.695; 0.7857±0.814), and 96 hours (0.5429±0.629; 0.4143±0.577) after the intervention and was lower in the intervention group than the control group, and the difference between the two groups was significant (p=0.001). Moreover, stool consistency was higher in the intervention group than in the control group after the consumption of date seed suspension (p<0.05).

    Conclusion

    Our results confirm the effectiveness of the herbal medicine prepared from date seed waste for control and treatment of gastroenteritis.

    Keywords: Child, Date seed, Diarrhea, Gastroenteritis
  • Mohammad Gholami, Sanaz Mehrabani*, Mohammadreza Esmaeili Dooki, Hoda Shirafkan Page 4
    Background and Objective

    Ingestion of corrosive substances in children is associated with complications and costs to the health care system. The aim of this study was to determine the incidence and complications of ingesting corrosive substances in children.

    Methods

    This cross-sectional study was conducted on children aged 6 months to 14 years who underwent upper endoscopy at Amirkola Children's Hospital during 2014-2021 for complaints of corrosive ingestion. Information studied included demographic information, type of corrosive substances, clinical symptoms, endoscopic findings, complications, and laboratory results.

    Findings

    In the 79 children (mean age of 31.33±20.38 months), 65.8% were boys, the most common type of ingested substance was alkaline (86.1%) and the most common ingested substance was bleach (69.6%). Totally, 70.1% of children had symptoms. The most common clinical symptoms were vomiting (68.4%) and oral lesions (39.2%). The esophagus (59.5%) was more affected than the stomach, and the most common esophageal endoscopic finding was grade 1 esophagitis (45.6%). No significant relationship was found between clinical symptoms, the incidence of esophageal-gastric involvement, or the severity of esophageal involvement. Leukocytosis (p=0.009), the increase in C-reactive protein (CRP) (p=0.001), erythrocyte sedimentation rate (ESR) (p=0.007), and blood sugar (BS) (p=0.019) were significantly related to the severity of esophageal involvement.

    Conclusion

    The results of the study showed that the rate of dangerous side effects caused by ingestion of corrosive substances was not high in children, but often caused by the use of alkaline drain openers, so attention and appropriate diagnostic measures are recommended, as well as preventive measures.

    Keywords: Child, Endoscopy, Ingestion of corrosive substances
  • Alireza Ganjali, Gholamreza Soleimani, Elham Shafighi Shahri, Alireza Teimouri, Saeedeh Yaghoubi* Page 5
    Background and Objective

    Based on WHO, mask wearing may prevent coronavirus disease 2019 (COVID-19) transmission. The aim of the present study was to investigate the prevalence of mask wearing and its related factors in Zahedan, southeastern Iran.

    Methods

    This cross-sectional study was carried out to investigate mask wearing in 408 children aged 2 to 18 years who were referred to specialized pediatric clinics at Zahedan University of Medical Sciences in Zahedan, Iran. The study ran in 2021-2022, and participants or their parents were asked about age, gender, number of children in the family, father's and mother's occupation, father's and mother's education, and family socioeconomic status. The SPSS 20 with a significance level of 0.05 was used to analyze the data.

    Findings

    The rate of mask wearing was 61.52%. Of the children who adhered to wearing masks, 57.77 % wore three layers, 94.42% wore well-fitting masks, and 65.34 % changed their masks at least three times per day. About 53.50% of the parents of the children who refused to wear masks did not believe in this behavior, and the others had economic problems. Mask-wearing was significantly influenced by all socio-demographic factors (p< 0.001).

    Conclusion

    It was found that 62% of the children wore masks. The majority of children who adhered to wearing masks used three layers, were adapted and changed masks at least three times per day. The majority of those who refused to wear masks did not believe in this treatment. Socio-demographic factors had a significant impact on mask wearing.

    Keywords: Behaviors, COVID-19, Mask-Wearing, Pandemic
  • Shiva Khanbabaie, Masoud Kiani*, Iraj Mohammadzadeh, Hadi Sorkhi, Mahmoud Hajiahmadi, Kiarash Saleki Page 6
    Background and Objective

    Despite the self-limiting nature of bronchiolitis, its severe forms require hospitalization. Electrolyte imbalance during bronchiolitis is common, however, the relationship between bronchiolitis severity and serum sodium (Na) levels has not been well studied. The purpose of this study was to investigate the relationship between serum Na level and bronchiolitis severity.

    Methods

    This cross-sectional study included hospitalized children with bronchiolitis at Amirkola Children’s Hospital, Babol, Iran, from May 2020 to May 2021. Diarrhea, underlying disease, glucocorticoid intake, and intravenous fluid therapy before admission were considered exclusion criteria. The Bierman-Pierson scale was used to evaluate the severity of the disease, and hyponatremia was divided into mild, moderate, and severe groups. Variables were analyzed using Statistical Packages for Social Sciences (SPSS) 26. A value of P<0.05 was considered significant.

    Findings

    Sixty-one children (55.7% male) with a mean age of 5.19 ± 4.36 months were enrolled in the study, with most (50.8%) belonging to the mild form of the disease. The mean serum Na levels based on the severity of bronchiolitis were 136.22 (SD: 2.99), 133.76 (SD: 3.88), and 130.50 (SD: 11.45) in the mild, moderate, and severe groups, respectively. There was a statistically significant relationship between serum sodium level and severity of bronchiolitis (P-value = 0.013).

    Conclusion

    The results showed that higher severity of bronchiolitis was associated with an increased risk of hyponatremia. Therefore, periodic monitoring and correction of hyponatremia in children with bronchiolitis, especially at younger ages, is necessary to improve the outcome of the disease.

    Keywords: Bronchiolitis, Child, Electrolyte imbalance, Prognosis, Sodium
  • Mohsen Ebrahimi, Seyed Ali Aghapour*, Raheleh Rostami Yasuri, Azam Rashidbaghan Page 7
    Background and Objective

    Asthma is the most common chronic disease in children and its prevalence has increased in the last three decades, so making the proper control of asthma is of great importance. The aim of this study was to evaluate asthma control in children in Gorgan, Iran.

    Methods

    In this cross-sectional study, 80 asthma patients in Taleghani Hospital, Gorgan, Iran (2019-2020) were studied in two groups; one controlled (n=46) and another one uncontrolled (n=34). The age range of the patients was 5-15 years. Data with a diagnosis of asthma were extracted from the medical records. The asthma control test (ACT) questionnaire was used to assess asthma control. A checklist was also prepared for this purpose.

    Findings

    Among the uncontrolled patients, 14 (31.10%) were female and 20 (57.10%) were male. A significant relationship was found between gender and disease control (P=0.02). Moreover, a positive association was found between asthma control and parents’ asthma history (P=0.03 for father and P=0.05 for mother/father). The duration of asthma showed no significant differences between the controlled and uncontrolled groups. Disease severity also had a positive effect on poor asthma control (P=0.001), resulting in 52.90% of patients in the uncontrolled group having severe asthma.

    Conclusion

    The uncontrolled asthma seemed to be present in less than 50% of asthmatic children. Gender, parental history, and severity of asthma revealed a positive association with asthma control. The results could be useful to further overcome the problems of asthma control.

    Keywords: Asthma Control, Asthma Control Test, Childhood Diseases
  • Majid Naderi, Maryam Lashkaripour, Saeedeh Yaghoubi, Ilia Mirzaei* Page 8
    Background and Objective

    Thalassemia is one of the most common genetic diseases that affect all aspects of quality of life (QOL). The present study was conducted to evaluate the QOL of children and adolescents with thalassemia major.

    Methods

    This descriptive-analytical-cohort study was performed on patients with thalassemia major referred to Ali Asghar Hospital in Zahedan in 2017-2018. A 26-item World Health Organization Quality of Life questionnaire (WHOQOL-Bref) was used to assess patients' QOL. The questionnaire of this study had two major components; 1- General information like age, sex, education, numbers of transfusions and heart disease and 2- Questions regarding physical and mental health. The result of the questionnaire yielded a score depending on the answers provided by the patients. Data were analyzed using the independent t-test and ANOVA.

    Findings

    Out of the 250 participants in the study, 123 and 127 ones were male and female, respectively. The mean QOL score was 262.735±13.785. There was no significant difference between boys and girls in the QOL score. But there was a significant difference in the QOL based on the education (P=0.000), heart disease (P=0.000) and number of blood transfusions (P=0.001).

    Conclusion

    This study revealed that patients with thalassemia major required special attention to various aspects of their lives as their lower QOL negatively impacted them. Providing more and better medical and rehabilitation services to this group seems to be necessary.

    Keywords: Children, Quality of Life, Thalassemia Major
  • Mohammad Reza Khalilian*, Ramin Azizi Malmiri, Tahmineh Tahouri, Mohammad Ghazavi Page 9
    Background and Objective

    A stroke is defined as an impairment of cerebral blood flow that results in neurologic symptoms and has ischemic and hemorrhagic forms. The ischemic type is more common in children. Congenital and acquired heart diseases are common causes of ischemic stroke in children. The aim of the present study was to describe the cardiac findings in pediatric patients younger than 14 years who were admitted with acute ischemic stroke.

    Methods

    This cross-sectional study was conducted to evaluate the cardiac findings in 21 patients under 14 years of age admitted with acute ischemic stroke to Golestan General Hospital, Ahvaz, Iran, over a 5-year period between 2013 to and 2018. All patients underwent a thorough cardiac examination that included electrocardiography as well as echocardiography and, if necessary, contrast echocardiography. Patients also underwent MRI of the brain and hematologic laboratory tests. Descriptive data were analyzed using SPSS 23.

    Findings

    Out of 21 patients, 5 (23.8%) had abnormal echocardiography, whereas 16 (76.2%) patients had normal echocardiography. The patients with normal echocardiography underwent contrast echocardiography, which was positive for patent foramen ovale in only one patient. Of the total of 5 patients with abnormal echocardiography, 2 patients had congenital heart disease, 2 patients had dilated cardiomyopathy, and one patient had left atrial myxoma.

    Conclusion

    In any pediatric patient with acute stroke, cardiac causes should be considered as the main risk factor, and a thorough cardiologic examination would be necessary.

    Keywords: Cardiac Disease, Children, Ischemic Stroke
  • Sanaz Mehrabani, Mohammadreza Esmaeilidooki, Omid Reza Jamshidvand*, Vanooshe Nezafati, Firuzeh Esmailzadeh Page 10
    Background and Objective

    Bezoar is a mass or indigestible substance that accumulates in the gastrointestinal tract, especially in the stomach. The formation of gastric bezoars (especially phytobezoars) is rare in children; however, when they are formed, they present a therapeutic challenge due to their hard composition and consistency as well as their large size.
    Case Report: A 7-year-old boy with an abdominal mass was investigated in this case report. The patient had eaten a lot of persimmons and pomegranates in the past. Gastroduodenoscopy revealed a large phytobezoar in the stomach, which was removed and treated using a gastroduodenoscope.

    Conclusion

    The gastroduodenoscopic technique is cost-effective in the treatment of gastrointestinal bezoars and has fewer complications for the patient than the surgery.

    Keywords: Bezoar, Child, Gastroduodenoscopy, Treatment
  • Prathyush Modumudi Venkata Bhaskara, Rakesh Kotha*, Alimelu Madireddy Page 11
    Background and Objective

    Previously, the coincidence of two different disease phenotypes in a single patient was considered to be a new phenotype or a phenotypic extension of a single known disease. However, with the advent of whole exome sequencing, it has become clear that in many cases it is a new phenotype or phenotypic extension. This case report represents a blended phenotype of Marfan and Larsen syndrome. Up to the time of reporting this case, we could not find a similar case in the sources.
    Case Report: A full-term male infant delivered vaginally by a primi-mother in a non-consanguineous marriage was transferred to the intensive care unit because of respiratory distress, meningomyelocele and dysmorphism. On clinical examination, the baby had a heart murmur. The baby required oxygen support but no pressure. We slowly weaned off oxygen and gradually started feeding. An ultrasound and echocardiography were performed to rule out malformations. Using molecular and next-generation exome sequencing techniques, the infant was found to have heterozygous variations of the FBN1 gene c.6094A>T p.Thr2032Ser (depth -36x), a novel variant, and the FLNB gene c.2956C>Tp.Arg986Trp (depth -48x), suggesting for neonatal Marfan syndrome (nMFS) and Larsen syndrome phenotype,  which was compatible with the phenotypic findings of the neonate. Unfortunately, the infant died because of sepsis and aspiration.

    Conclusion

    In extremely rare cases, there may be more than one syndrome. Under these circumstances, the prognosis is grim, as usual. When the syndromic phenotype varies, advanced genetic testing is preferred.

    Keywords: Blended Phenotype, Fibrillin-1, Genetic High Throughput Sequencing Analysis, Larsen syndrome, Neonatal Marfan syndrome, Whole Exome Sequencing
  • Jagadishkumar Kalenahalli*, Prajwala Hassan Vasudev, Manjunath Vadambal Gopalakrishna, Nandish Huchhavanahalli Rudrappa Page 12
    Background and Objective

    Octreotide is a somatostatin analogue used to control upper gastrointestinal (GI) bleeding. Adverse effects observed include hyperglycemia, growth hormone deficiency, hypertension, Q-T interval prolongation, and ventricular fibrillation. In rare cases, mild bradycardia has been reported.
    Case Report: A 16-year-old boy was admitted with shock due to hematemesis and melena a bleeding duodenal ulcer. He was treated with an intravenous venous octreotide infusion at a dose of 1 microgram/kg/hour, and bleeding was controlled with coagulation forceps and adrenaline injection. Because of rebleeding, octreotide was increased to 2 micrograms/kg/hour because of bleeding again. After 24 hours, he developed severe bradycardia (pulse rate (PR) 45/minute). His PR increased to 66/minute by 12 hours after octreotide was discontinued.

    Conclusion

    Octreotide can cause significant cardiovascular side effects. Bradycardia and cardiac conduction blocks may affect the hemodynamics of a child with acute GI bleeding.

    Keywords: Bleeding, Child, Infusion, Octreotide, Severe Bradycardia
  • Ketaki Kulkarni, Ravi Varma, Anuragsingh Chandel*, Smita Jategaonkar, Varsha Chauhan, Manish Jain Page 13
    Background and Objective

    Spinal muscular atrophy (SMA) type 1 is an autosomal recessive degenerative disease presenting early in life and progressing into neonatal and infancy. It is caused by a loss of function of the gene for surviving motor neuron 1, leading to degeneration of the anterior horn cells of the spinal cord and consequent to progressive muscle weakness and atrophy. The aim of this case report is to report an infant with SMA type 1which was presented with clinical sepsis.
    Case Report: This study reports a 1.5 months old male infant presenting with floppy limbs, poor nutrition, inadequate weight gain, and respiratory distress. The infant had tachypnea with paradoxical breathing, hypotonia, tongue fasciculations, bilateral wrist contractures, and absent deep tendon reflexes. He was tested for SMA by multiplex ligation-dependent probe amplification (MLPA). Reports were positive for a homozygous mutation of the SMN1 gene in exon 7 and exon 8, confirming the diagnosis of SMA type 1.

    Conclusion

    SMA can be confused with neonatal sepsis due to similar clinical presentation; a high level of suspicion is required in children with respiratory distress in early infancy. It is important to alert clinicians to this differential diagnosis in children with failure to thrive, respiratory failure, and progressive muscle weakness, as the care of these patients presents unique challenges and ethical dilemmas.

    Keywords: Floppy, Hypotonia, Poor Nutrition, Respiratory Insufficiency, Survival Motor Neuron Gene, Werdnig-Hoffmann disease
  • Houman Hashemian*, Fateme Ebrahimzadeh Page 14
    Background and Objective

    One of the leading causes of acquired heart disease in the world today is Kawasaki disease [KD], an acute systemic vasculitis in children. The purpose of this study was to identify the clinical and laboratory manifestations of children with KD admitted to the 17th Shahrivar Educational Hospital in Rasht, Iran.

    Methods

    We retrospectively studied the cases of 75 children with KD who were admitted to the 17th Shahrivar Educational Hospital in Rasht between 2011 and 2018. The frequency distribution of age, sex, seasonal prevalence, clinical manifestations including fever, skin rash, changes in the lips and oral cavity, conjunctivitis, changes in the extremities, and cervical lymphadenopathy; laboratory findings including platelets and leukocyte count, erythrocyte sedimentation rate [ESR], and C-reactive protein [CRP]; and response to treatment were studied. The obtained data were analyzed using descriptive statistical methods.

    Findings

    Out of 75 patients, the most common clinical manifestations were fever [100%], skin rash [78.67%], alterations to the lips and mouth [74.67%], bilateral non-purulent conjunctivitis [64%], changes in the extremities [46.67%], and cervical lymphadenopathy [38.67%], respectively. Among 75 patients, 70 [93.33%] had ESR above 40 mm/h, and 63 patients [84%] had high C-reactive protein [CRP]. Sixty percent of children had incomplete Kawasaki disease. Eight of our patients [10.6%] developed coronary heart disease.

    Conclusion

    In this study, the most frequent principal clinical manifestations were fever, skin rash, and alterations in the oral cavity and lips. Cervical lymphadenopathy had the lowest prevalence. Increased ESR and CRP were also the most common laboratory findings.

    Keywords: Child, Coronary Aneurysm, Kawasaki Disease
  • Maryam Yahyapour Azad, Tahereh Hamzehpoor Haghighi, Somayeh Khosravaniyan* Page 15
    Background and Objective

    The increase in self-injurious behaviors is a concern about adolescents and is related to people's attachment styles. The present study used the descriptive-correlation method to predict self-harm based on attachment styles with the mediating role of emotion dysregulation in high school female students.

    Methods

    The statistical population of this study included all the female high school students in autumn and winter 2022-2023 in Pasargad City, Fars province, of which 337 students aged 13 to 18 years participated in the convenience sampling. In this research, three questionnaires were used including the self-harm Inventory (SHI), the attachment scale of Collins and Read (1990), and the difficulty in emotion regulation scale (DERS). Data analysis was conducted in SPSS-24 and Amos-24 software with Pearson correlation coefficient and bootstrap statistical tests.

    Findings

    The findings showed that there was a significant correlation between attachment styles and self-harm, difficulty in emotion regulation and self-harm, and finally between attachment styles and emotion dysregulation at the 0.01 level. The chi-squared value was significant with 56.29 at the 0.001 level.

    Conclusion

    The results demonstrated that emotion dysregulation played a mediating role between attachment styles (secure and avoidant) and self-harm, and their path coefficient was negative, and the anxious attachment style had a positive effect on self-harm due to the difficulty in emotion regulation.

    Keywords: Attachment Styles, Emotional Regulation, Female Students, Self-Injurious Behavior, Self-Harm
  • Kurosh Riahi, Babak Najibi, Mehrdad Razmara* Page 16
    Background and Objective

    Tetralogy of Fallot (TOF) is the most common form of cyanotic congenital heart disease. Hypercyanotic spells are one of the major complications of TOF which call for a prompt intervention to resolve hypoxic conditions. The aim of this study was to evaluate the effect of intranasal midazolam on the control of spells in children with hypercyanotic TOF.

    Methods

    This semi-experimental study was conducted on TOF children referring to the pediatric emergency department of Golestan Hospital, Ahvaz, Iran from April 2017 to February 2018. The children were knee-chest positioned by the mother, and if the spells were not resolved, 0.2 mg intranasal midazolam was introduced into the nasal cavity. Three minutes after the child’s recovery, measurement of heart rate and respiratory rate as well as pulse oximetry was done. Data were analyzed by SPSS version 17.

    Findings

    Of the 10 patients studied, 6 (60%) were boys and 4 (40%) were girls. The age of patients ranged from 6 months to 3.5 years. Sixty percent of the children were in recovery, 20% were crying, and 20% were fearful. Examination of before and after intervention showed that heart rate and respiratory rate were significantly reduced (P <0.001). There was a significant increase in arterial blood oxygen (P <0.001).

    Conclusion

    According to the results of this study, intranasal midazolam is effective and safe in controlling spells in patients with TOF.

    Keywords: Cyanosis, Heart Diseases, Midazolam, Nasal Absorption, Tetralogy of Fallot
  • Yaseena Bhanu, Linga Reddy Kasula, Rakesh Kotha*, Alimelu Madireddy Page 17
    Background and Objective

    Niemann-Pick type C is a rare lysosomal storage disorder causing cholesterol intracellular transport deficiency. Typically found in children, it causes neurological deterioration and age-related symptoms. In this article, two cases of Niemann-Pick type C1 with cholestasis and another case with a compound heterozygous mutation that included Niemann-Pick type D are presented. Although neonatal diseases are the most common cause of early cholestasis, this report emphasizes the importance of considering storage disease in cholestasis.
    Case Report: A 34-day-old female baby born to a third-degree married couple at 38 weeks gestation presented with cholestatic jaundice. Whole-exome sequencing suggested an NPC1 gene mutation and Niemann-Pick type C. A 35-day-old female baby born at 39 weeks gestation presented with ecchymotic patches, decreased feed acceptance, greenish discoloration of the eyes, high-color urine, and firm hepatosplenomegaly. The child was worked up for conjugated hyperbilirubinemia and a liver biopsy in favor of Niemann-Pick disease. Whole exome sequencing showed an NPC1 gene heterozygous mutation, suggesting Niemann-Pick disease types C and D.

    Conclusion

    Pediatricians should consider Niemann-Pick disease in neonates with persistent cholestasis.

    Keywords: Cholestasis Lipid Storage Disorders, Neonate, Niemann-Pick Disease