فهرست مطالب

Iranian Journal of Neonatology
Volume:13 Issue: 3, Summer 2022

  • تاریخ انتشار: 1401/07/09
  • تعداد عناوین: 16
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  • Kenza Hattoufi *, Hassan Aguenaou, Aicha Kharbach, Amina Barkat Pages 1-7
    Background
    Rubella is an acute viral disease generally mild in its clinical manifestations. However, it is most serious for pregnant women due to the high frequency of congenital abnormalities that it causes, known as congenital rubella syndrome. This study aimed to determine rubella seroprevalence among a group of Moroccan parturients and survey physicians’ opinions regarding the situation of congenital rubella syndrome in different regions of Morocco.
    Methods
    We prospectively enrolled 1500 women hospitalized in the Maternity Souissi of Rabat for delivery and 14 pediatricians/neonatologists who were practicing in public and private centers representing different regions of Morocco. Data on rubella serological status were extracted from the medical records of mothers. The physicians involved in this study were visited to answer the survey in person, or they completed the survey by e-mail or phone discussion.
    Results
    Among enrolled women, and after excluding those who did not bring back evidence of a serological assessment, 222 (17.5%) women performed a rubella serology of which 84.7% were immunized against rubella. The opinion poll of physicians showed an almost absence of reports on congenital rubella syndrome cases. All practitioners surveyed were interested to join the establishment of congenital rubella syndrome reporting system.
    Conclusion
    To achieve the goals set for congenital rubella syndrome elimination, it is of primary importance to protect women from the childbearing age by vaccination and measures that help avoid any further contact with the virus. There is also a need to expand serological screening to detect and monitor seronegative women. In addition, it is necessary to diagnose and notify new cases of congenital rubella syndrome.
    Keywords: Congenital anomalies, Congenital Rubella Syndrome, Parturient, Rubella, Seroprevalence
  • Viral Dave *, Asha Solanki, Vasu Rathod, Venu Shah, Rujul Shukla Pages 8-14
    Background
    Early detection and timely management of issues pertaining to breastfeeding in the immediate postpartum period are of utmost importance since these challenges are the important risk factors for lactation problems. To assess breastfeeding difficulties in the immediate postpartum period, breastfeeding practice among participants as per IMNCI (Integrated Management of Neonatal and Childhood Illness) Guidelines, and various determinants of breastfeeding difficulties.
    Methods
    This hospital-based cross-sectional study assessed recently delivered mothers in the postnatal ward during the first 48 hours postpartum conducted at Ahmedabad, India. The inclusion criteria entailed being admitted to the postpartum/postnatal ward, normal/cesarean delivery, and provision of written consent. After applying the exclusion criteria, 343 participants were included in final analysis. Observations were made regarding signs of good position and attachments as per IMNCI guidelines.
    Results
    More than half of the participants (56.9%) were aged 21-25 years, and 53.6% of them had primary/secondary school education. Breast pain was the most common difficulty reported (47.52%), followed by less secretion of milk (25.07%). Other difficulties reported were sore nipples, breast heaviness, inverted nipples, backache, giddiness, as well as headache and perineal pain  at the site of stitches. "Good attachment" and "good positioning" were found in 62.16% and 60.96% of participants, respectively. The majority of participants (52.08%) had the perception that their newborn was not sucking effectively.
    Conclusion
    Mothers' age, numbers of live births, and mixed feeding were statistically significantly associated with good attachment. Good positioning was statistically significantly correlated with less secretion of milk. Duration of starting breastfeeding after birth and breast pain were significantly associated with both.
    Keywords: attachment, Breastfeeding, Difficulties, Position, Post-Partum
  • Gholamreza Faal, Reza Poorhoseiny *, Bita Bijari Pages 15-20
    Background
    The use of surfactants is still considered a cornerstone in the treatment of neonatal respiratory distress syndrome (RDS). This study aimed to compare two doses of Curosurf to determine the most effective dose of this medicine with the least side effects. The study was performed as a double-blind clinical trial in the Neonatal Intensive Care Unit of Valiasr Hospital in Birjand, Iran, from June to October 2021 on 51 neonates admitted with RDS.
    Methods
    Neonates with RDS who met the inclusion criteria were randomly divided into two groups. Initially, they underwent nasal Continuous Positive Air Way Pressure (n-CPAP), and if failed, Curosurf was administered intratracheally at a dose of 100 or 200 mg/kg. The two groups were compared in the mean hospital stay, the need for supplemental oxygen, the need for n-CPAP, the start of complementary feeding after Curosurf injection, the relative frequency of the need for mechanical ventilation, and possible complications after the injection and re-injection of surfactant. Data were analyzed using the independent sample t-test, the Mann–Whitney U test, Chi-squared test, and Fisher’s exact test at a significance level of α=0.05.
    Results
    The sample size was calculated based on the existing studies considering the days of the need for oxygen therapy in the two groups with different doses of surfactant (6.4±3.5 and 8.9±2.6 days) and according to the formula for comparing the means in the two groups with 95% confidence interval and 80% power. Accordingly, 24 neonates were assigned to each group. N=[z (1-α/2)+z (1-β)] (δ12+δ22)/ (µ1-µ2)2. Data were analyzed at a significant level of α=0.05. The findings indicated no significant difference between the two groups of neonates in the mean length of hospital stay, adjuvant oxygen requirement, n-CPAP requirement, time to oral feeding initiation from birth with breast milk (with breast or assistive devices) or formula, the relative frequency of the need for mechanical ventilation, and possible side effects after the injection and re-injection of surfactant.
    Conclusion
    In conclusion, 100 and 200 mg/kg of Curosurf appear to have the same effects and outcomes in the treatment of neonatal RDS.
    Keywords: Curosurf®, Mechanical Ventilation, N-CPAP, RDS, Surfactant
  • Masoumeh Mirzamoradi, Soraya Saleh Gargari, Parichehr Pooransari, Mahboobeh Shirazi, Maryam Ahmadyan *, Zahra Naeiji, Nayereh Rahmati, Taraneh Arbabzadeh, Neda Ahmadyan Pages 21-28
    Background
    Maternal obesity affects the health of infants and pregnancy outcomes. Few studies, to the best of our knowledge, have assessed the relationship between maternal body mass index (BMI) at antenatal corticosteroid therapy (ACS) and the frequency of preterm adverse outcomes results of which were discrepant. The present study aimed to investigate the prevalence of several neonatal morbidities based on maternal BMI among pregnant women who received a single course of ACS.
    Methods
    The present retrospective study was conducted on pregnant women referred to Mahdieh Hospital in Tehran, Iran between 2021 and 2022. Medical records of pregnant women were included who received a single course of betamethasone with the risk of preterm birth. The mothers were divided into three groups in terms of weight after checking the inclusion criteria. Clinical characteristics and neonatal outcomes were collected and analyzed using soft statistics.
    Results
    A total of 610 medical records (30.49%: normal weight, 57.54%: overweight, and 11.98%: obese) were included. Also, the cesarean section rate in overweight and obese cases was significantly higher than that of the normal BMI group (P<0.05). No significant relationship was observed between maternal BMI and neonatal mortality or morbidity (P> 0.05).
    Conclusion
    BMI was more associated with increased cesarean section rate in overweight and obese groups. However, no significant relationship was observed between maternal BMI and neonatal outcomes. This result suggests that BMI fails to affect the efficacy of betamethasone.
    Keywords: Betamethasone, Body mass index, Perinatal, Premature birth, Neonatal
  • Rajkumar Meshram *, Ranjeet Chatnalkar Pages 29-36
    Background
    Acute derangements of neonatal physiological parameters, such as temperature, oxygen saturation, skin perfusion, and blood sugar (TOPS parameters), can adversely affect the neonatal outcome. To correlate the TOPS parameter with the short-term outcome of transported neonates.
    Methods
    This prospective observational study was carried out on 300 transported neonates by applying TOPS parameters within an hour of admission, and the outcome was assessed after 72 h of hospitalization.
    Results
    Hypothermia, hypoxemia, hypoperfusion, and hypoglycemia were found in 37%, 30%, 32%, and 13.33% of the neonates, respectively. The neonatal mortality rate was obtained at 20.67%. Among the non-survivors, hypoxemia was the most prevalent abnormality, followed by hypoperfusion in 77.42% of the neonates. All the neonates with all normal parameters (score 0) survived, while those with all abnormal parameters (score 4) showed 100% mortality. It was observed that an increase in the score led to an increase in the mortality rate, and it was statistically significant (P=0.001). The overall sensitivity and specificity were estimated at 87.1% and 84.03%, respectively, with a positive predictive value of 58.7% and a negative predictive value of 96.15%. The area under the receiver operating characteristic curve was 0.913 when the TOPS score was ≥ 2. The prediction of mortality was most sensitive with hypoxemia, followed by hypoperfusion, with sensitivities of 82.26% and 77.42% and negative predictive values of 94.76% and 93.14%, respectively.
    Conclusion
    The TOPS score was a reliable tool to predict mortality in transported neonates as mortality significantly increased by an increase in the TOPS score. Mortality was high when the scores of all four parameters were abnormal, while there was a better chance of survival with a score of zero.
    Keywords: Neonatal transport, Oxygenation, Perfusion, Sugar, Temperature, TOPS score
  • Sedigheh Khanjari, Arash Bordbar, Shima Haghani, Mehrangiz Khani * Pages 37-43
    Background
    Respiratory distress syndrome and lung infection are the most common lung problems and the leading cause of mortality in preterm neonates. The prolonged use of endotracheal tubes and mechanical ventilation increases the risk of airway injury, pneumonia, and chronic lung disease. Nursing interventions can be considered a vitally important factor in the success of endotracheal intubation in premature infants. Therefore, the present study aimed to investigate the effect of training nurses in the process of weaning premature infants from mechanical ventilation on neonatal outcomes in the neonatal intensive care unit (NICU).
    Methods
    The present quasi-experimental study was performed on 46 nurses and 312 premature neonates admitted to the NICU of Akbarabadi Hospital in Tehran in 2020. The subjects were entered into the study using the census method; subsequently, they were examined three months before and three months after the intervention. The data collection instrument was a two-part researcher-made questionnaire encompassing demographic characteristics of nurses and preterm infants, the length of hospital stay, length of mechanical ventilation, and incidence of infection. Data were analyzed in SPSS software (version 22) using an independent t-test and chi-square test. A p-value less than 0.05 was considered statistically significant.
    Results
    The results demonstrated that despite a significant reduction in the number of infections after the intervention compared to before the intervention, there was no statistically significant difference between the two time periods in terms of neonatal outcomes (p=0.194). The results also indicated that nurses' training reduced the chances of neonatal infection by about 1.5 times (OR=1.498).
    Conclusion
    As evidenced by the results of the present study, although a reduction was observed in neonatal outcomes after nursing education, it was not statistically significant, indicating that other factors, such as nurses' adherence to hand hygiene protocols, duration of intervention, sample size, and educational content, were also involved in this regard and affected the results of this study.
    Keywords: Infection, Nursing education, Premature Infants, Weaning process
  • Nehal Elraggal, Hesham Ali, Yasmin Farid * Pages 44-50
    Background
    Zinc (Zn) salts have been tried for the prevention and treatment of neonatal jaundice as they are presumed to reduce serum bilirubin through the inhibition of enterohepatic circulation with controversial results. This study aimed to evaluate the effect of Zn sulfate on both bilirubin levels and the duration of phototherapy during the management of neonatal jaundice.
    Methods
    A double-blinded prospective study was conducted on 60 healthy neonates, ≥36 weeks gestation, with unconjugated non-hemolytic neonatal hyperbilirubinemia requiring phototherapy within the first week of life. They were divided into three groups of: A (n=20) receiving placebo, B (n=20) receiving low-dose oral Zn sulfate (10mg/day), and C (n=20) receiving high-dose oral Zn sulfate (20 mg/day), in combination with phototherapy for seven days. Serum bilirubin levels were measured on day 1 before starting the treatment and were reevaluated on days 3 and 7.
    Results
    Day 3 bilirubin was significantly lower in group C, compared to groups A and B (12.36±2.50 vs. 13.99±1.59 and 13.65±1.67 mg%; P<0.011 and P<0.043, respectively). Moreover, day-7 bilirubin demonstrated a significant decrease in group C than in group A (8.03±1.75 vs. 10.47±2.24 mg%, P<0.001). Total phototherapy duration was significantly shorter in group C, compared to groups A and B (26.05±11.42 vs. 37.70±18.27 and 36.90±12.47 h; P<0.032 and P<0.028, respectively).
    Conclusion
    The administration of oral Zn sulfate in a dose of 20 mg/day in combination with phototherapy could be helpful and safe in reducing both bilirubin level and phototherapy duration in jaundiced neonates.
    Keywords: Hyperbilirubinemia, Neonatal Jaundice, Phototherapy, Zinc sulfate
  • Mahboubeh Jamehdar, Roghaiyeh Nourizadeh, Aboulhassan Divband, Mohammadbager Hosseini, Leila Valizadeh, Sevil Hakimi * Pages 51-55
    Background
    Breastfeeding is known as a normative means of infant feeding, and human milk is considered the optimal nutrition source for infants. Although there are several tools for assessing infants’ feeding behavior, currently, only the Preterm Infant Breastfeeding Behavior Scale (PIBBS) is specifically developed to measure the feeding behavior of preterm infants. The present study aimed to evaluate the validity and feasibility of PIBBS.
    Methods
    The Preterm Infant Breastfeeding Behavior Scale was translated using forward/backward methods. Cohen’s kappa coefficient was used to evaluate the inter-rater reliability of the questionnaire. To this end, the feeding behaviors of 70 neonates born at 32-35 weeks of gestation were assessed on two consecutive days, once by the researcher and again in the evening shift of the same day by one of the nurses, and then, PIBBS questionnaire was completed. The internal consistency of the instrument was measured by calculating Cronbach’s alpha coefficient.
    Results
    The total Cohen’s kappa of the instrument was estimated to be 0.72 on the first day of observation and 0.79 on the second day, which was considered substantial. The Cronbach’s alpha coefficient of the instrument was 0.791, which was acceptable.
    Conclusion
    The PIBBS was a valid and reliable instrument for the evaluation of preterm newborns’ feeding behavior.
    Keywords: Feasibility, Inter-rater reliability, Preterm infant breastfeeding score, Preterm newborn’s nutrition, Validity
  • Safaa Mohammed, Ali Obaid *, Ban Majeed Pages 56-62
    Background
    Prematurity and its complications are the major causes of neonatal and infant morbidity and mortality. Although the cause of preterm labor is often unknown, numerous etiological risk factors may be implicated. To identify the risk factors that lead to prematurity and assess the neonatal outcomes that preterm neonates may develop.
    Methods
    This case-control study was conducted at AL-Elwiya Pediatric Teaching Hospital, Baghdad, Iraq, from the 1st of June to the 31st of December 2019. A non-randomized sample of 700 neonates admitted to the neonatal care unit was included in this study and divided into two groups of preterm full-term neonates as the experimental and control groups, respectively (n=350 each). The same questionnaire was applied to all cases. The test of proportion and the Chi-square test were used to determine significant differences between the two groups.
    Results
    A significant association was found between preterm birth and the factors of older maternal age (more than 35 years), passive smoking, low educational state, and employed mothers. Moreover, cervical incompetence, premature rupture of membrane, number of fetuses, and gestational hypertension showed significant associations with preterm birth. It was also found that preterm birth was highly associated with such complications as respiratory distress syndrome, sepsis, intraventricular hemorrhage, hypothermia, and hypoglycemia.
    Conclusion
    Prematurity was associated with certain risk factors, such as older maternal age, multiple gestations, premature rupture of membrane, pre-eclampsia, and diabetes mellitus. Preterm neonates were more liable to develop complications, have hospital admission, and have a higher risk of mortality than the control group.
    Keywords: causes, Complications, Newborn, Preterm
  • Ali Naseh *, Afsar Dastjani-Farahani, Bahareh Yaghmaii, Maryam Shariati, Naeeme Taleghani, Farzaneh Kermanshahi Pages 63-69
    Background

    Retinopathy of prematurity (ROP) may cause decreased visual acuity and even blindness. This study aimed to extend ROP screening to late-premature neonates.

    Methods

    The study evaluated the results of ROP screening in premature neonates with gestational age (GA) of 32-36 weeks and six days in Tehran, Iran, using the medical records of neonates admitted to NICU from 2007 to 2018. These neonates had respiratory distress and received supplemental oxygen. They underwent a complete retinal examination on the 28th day of birth. The neonates with complications such as syndromic disorders, congenital heart disease, metabolic disorders, or surgical needs were excluded from the study.

    Results

    The study included 415 premature neonates (equal ratio of each gender) with a mean GA of 33.4 weeks and a mean birth weight (BW) of 1886 grams, of whom 76 (18%) had ROP and 11 (2.7%) needed ROP treatment. Neonates with ROP had lower GA and BW compared to neonates without ROP (32.7 versus 33.5 weeks, P=0.000039, and 1698 versus 1929 grams, P=0.05, respectively).Detailed patient records available for 163 neonates showed that compared to neonates without ROP, the ROP group had increased mean time for oxygen therapy (118±115 versus 44±49 hours, P<0.001) and hospitalization duration (24±20 versus 10±8 days, P<0.001).

    Conclusion

    Neonates with GA of up to 35 weeks who had an unstable clinical course or any high-risk factor for developing ROP may need to be screened for the presence of ROP to prevent adverse outcomes. The obtained results showed that lower GA, lower BW, increased oxygen-therapy duration, and longer hospitalization duration are risk factors for developing ROP.

    Keywords: blindness, neonate, Oxygen therapy, Retinopathy of prematurity, Visual impairment
  • Simin Mouodi, Yadollah Pasha, Zahra Akbarian Rad, Mousa Ahmadpour, Mohsen Mohammadi, Zeinab Pahlavan, Maryam Nikpour, Nafiseh Yazarlou, Mohsen Haghshenas Mojaveri * Pages 70-74
    Background
    A limited number of studies described the clinical aspects of the new coronavirus outbreak in the infant population. This study was conducted to describe the clinical features and laboratory findings in infants younger than 2 months of age hospitalized with confirmed coronavirus disease 2019 (COVID-19) infection.
    Methods
    This observational retrospective cohort study included all infants aged <2 months, admitted to two pediatric state hospitals, north of Iran, between February 19, 2020, and January 1, 2021, with confirmed COVID-19 infection. The patients whose pharyngeal or rectal specimens examined for coronavirus disease using a real-time polymerase chain reaction (RT-PCR) assay was positive, were included in the research. All patients were followed until they were discharged from the hospital.
    Results
    Totally, 13 infants with an age range from 1 to 50 days have been recognized. More than one-third of the study patients (38.5%) have been hospitalized immediately after birth. Dyspnea and gastrointestinal symptoms were the most typical manifestations of the patients. One patient had positive RT-PCR results in cerebrospinal fluid examination
    Conclusion
    The median length of stay in the hospital was seven days. More than 90% of infants younger than 2 months of age hospitalized with confirmed COVID-19 infection are expected to be cured.
    Keywords: Coronavirus, Infant, Pandemics
  • Shahnaz Kohan, Ziba Raisi Dehkordi *, Maryam Rassouli, Elahe Zarean, Azadeh Malekian Pages 75-83
    Background
    Prenatal diagnosis of fetal anomalies leads to parental psychological stress and decision-making challenges to continue or terminate pregnancy. Continuing pregnancy despite fetal anomaly can cause confusion, anxiety and depression in parents, so it seems necessary to be aware of their needs and appropriately respond to them. This study was conducted to exploring experiences about Continuation Pregnancy despite fetal anomaly in the socio-cultural context of Iran.
    Methods
    Qualitative exploratory descriptive study, 35 participants including 15 pregnant women with Life-Limiting fetal anomaly diagnosis, 5 family members and 15 perinatal care providers were selected purposefully. Data were gathered by individual interview and were written, important phrases were coded, by grouping same codes, main and sub categories were extracted.
    Results
    In this study, 4 main categories, each with a number of subcategories were extracted. The main categories included: “mental health counseling, support parents to accept and cope with event, ethical consideration during end-of-life care of baby, providing perinatal palliative care)”.
    Conclusion
    The results showed that parents who forcibly or voluntarily continue pregnancy after a wearing of fetal anomalies, have extensive care needs during pregnancy and after birth that are not sufficiently met. Therefore, it seems that a comprehensive service package of perinatal palliative care appropriate for Iran socio- cultural context is necessary.
    Keywords: Fetal Anomaly, Palliative care, Prenatal diagnosis, Qualitative research
  • Ahmadshah Farhat, Reza Saeidi, Fatemeh Soltan Zegheibizadeh, Farideh Golhasani, Ashraf Mohammadzadeh * Pages 84-88
    Background
    The neonatal period is the riskiest time for child survival. Globally, 2.4 million children died in the first month of life in 2020, and there are approximately 6,700 newborn deaths every day. In this study, the authors have evaluated the causes of death among infants hospitalized in the Neonatal Intensive Care Unit (NICU) of Imam Reza Hospital, Mashhad, Iran, for five years, since 2015.
    Methods
    A cross-sectional study was conducted on all neonates who died in the NICU under study. Data were collected through one of the proposed questionnaires of the Ministry of Health and Medical Education (NOHME), known as the “Green Questionnaire for the Study of the Dead Infant”. The data were recorded regarding asphyxia, congenital anomalies, sepsis or infection, respiratory distress syndrome (RDS), disseminated intravascular coagulation, pneumothorax, seizures, and the date of death. The extracted data were categorized and analyzed by the SPSS software (version 16). Babies who died at more than 28 days of age were excluded.
    Results
    Totally, 501 out of 4,348 NICU admissions died (11.52%), 54.5% of whom were male and 45.5% female. The mean birth weight was 1,658±1,018 grams, and the mean gestational age was 32±6 weeks. Most of them were between days one to six. The most common causes of NICU-Mortality Rate (MR) were RDS, congenital heart disease, and congenital anomalies, in descending order. The hospital under study recently expanded to a referral center for congenital heart disease in the east of Iran, which affected the NICU-MR in the ward under study. After the omission of congenital heart disease, the NICU-MR was 10.1%.
    Conclusion
    The NICU-MR was 10.1-11.5% in this study. After RDS, the second cause of death was congenital heart disease. As it is a new division in the hospital under study, it is hoped to get better improvement in congenital heart disease management.
    Keywords: Etiology, Neonatal Intensive Care Unit, neonatal mortality rate, Newborns
  • Carlos Torres- Salinas *, Lozano-Moreno Daniel, Jesús-Terbullino Luz, Franco-Benites Magaly, Trujillo-Villa Ivette Pages 89-91
    Background

    Neonatal acute apendicitis in the newborn is an extremely rare surgical entity, its incidence is 0.04% to 0.2%, and it represents a diagnostic challenge in this group of patients. For this reason, it is not usual to suspect this pathology when we are facing an acute neonatal abdomen; mostly there is a delay in diagnosis and management. And although the literature shows a decrease in mortality, it is still around 28% in some reviews.

    Case report:

    We report a female neonate with complicated acute appendicitis, who at the beginning did not present evident symptoms and did not respond to medical management. On the sixth day, due to poor evolution, he was admitted to surgery with

    findings

    free meconium in the abdominal cavity with a 1-cm-diameter punch-type perforation in the distal ileum (4 cm from the ileus-caecal valve), which was crushed with phlegmonous cecal appendix; Cecum and omentum with abundant fibrin around.

    Conclusion

    The timely diagnosis of acute appendicitis in neonates continues to represent a challenge for neonatologists. Due to its low frequency but high lethality, it should be considered as a diagnostic option against a baby with an acute abdomen that does not show clinical findings of frequent pathologies in addition to an unusual clinical course.

    Keywords: neonatal appendicitis, Necrotizing Enterocolitis, peritonitis
  • Hanae Aouraghe *, Mohammed Radouani, Ilham Elouardighi, Asmaa Dibi, Amina Barkat Pages 92-94
    Background

    Pompe disease (P.D.), also known as Glycogen storage disease type II, is an autosomal recessive lysosomal storage disease caused by a deficiency of acid alpha-glucosidase (AAA) or maltase acid. This enzyme allows the hydrolysis of lysosomal glycogen. Patients with infantile-onset P.D. (IOPD) exhibit a nearly complete absence of AαGlu activity; moreover, they develop hypotonia and hypertrophic cardiomyopathy during infancy. Patients with IOPD eventually die of cardiorespiratory failure due to the accumulation of massive amounts of glycogen in their skeletal and heart muscles.

    Case report: 

    T.M. is a 4-month-old female infant, the second of two siblings, hospitalized at the Neonatology and Nutrition Center in Rabat, Morocco, for severe respiratory distress with generalized congenital hypotonia.

    Conclusion

    Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterized by the degeneration of alpha motor neurons within the spinal cord. The disease is linked to a mutation in the survival motor neuron (SMN)1 gene on chromosome 5 (5q13.2), which prevents the synthesis of SMN  protein. No case of association has been reported between these two diseases to date. We present a case of Pompe disease associated with spinal muscular atrophy.

    Keywords: SMN1, Glycogen storage disease type II, neonatal hypotonia
  • Tanya Kitova *, Borislav Kitov, Polina Angelova, Ecaterina Uchikova Pages 95-96