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Familial glucocorticoid deficiency is caused by variants in the MC2R and MRAP genes. We report an Iranian patient with congenital glucocorticoid deficiency and cholestasis due to pathogenic variants in the MC2R gene. This is the first documented case of a patient with conditions. Clinical evaluations and lab assessments were conducted on a six‐month‐old male infant. Next‐generation sequencing identified the genetic causes of the disease, and Sanger sequencing confirmed the variants through segregation analysis. The clinical presentation included prolonged jaundice, progressive skin hyperpigmentation, seizures, fever, and a large umbilical hernia. Two variants in the MC2R gene, c.560delT and c.676G > C, were detected and classified as pathogenic and likely pathogenic, respectively. The cooccurrence of cholestasis and glucocorticoid deficiency illustrates the clinical heterogeneity caused by MC2R variants. The prevalence of c.560delT and c.676G > C between Iranian populations suggests these variants may be common. The high frequency of c.560delT could be attributed to a founder effect. [ABSTRACT FROM AUTHOR]

Pseudotumor cerebri syndrome (PTCS) is an uncommon disease in children. On-time diagnosis and treatment can prevent irreversible visual loss. Although headache is the most common complaint of children with this syndrome, the present case report reported a child with neck rigidity and torticollis, declined by the reduction of intracranial pressure. Despite the importance of torticollis and neck rigidity presented in various significant neurological disorders in need of thorough investigations, in the case of unexplained symptoms of those disorders, it is recommended to consider fundoscopic examinations for PTCS to prevent its vital complications. [ABSTRACT FROM AUTHOR]

Objective Some previous studies have reported the improved survival of very-low-birth-weight (VLBW) neonates with no disabilities. However, 16% of these neonates have developmental disorders. Considering the lack of research on the developmental status of five-year-old VLBW children and the importance of early detection and treatment, in this study, we aimed to assess the developmental status of five-year-old VLBW children. Materials & Methods This historical cohort study was conducted on five-year-old children. The participants were divided into VLBW and normal-birth-weight (NBW) groups. Data were gathered using the Ages and Stages Questionnaire (ASQ). This questionnaire consisted of five developmental domains, including communication, gross motor, fine motor, problem-solving, and personal/social skills. Data were reported by measuring descriptive statistics, including mean, standard deviation, number, and percentage, and analyzed by Mann-Whitney U test and independent t-test in SPSS version 22. Results A total of 106 five-year-old children, including two groups of VLBW and NBW, participated in this study. The results of Mann-Whitney U test showed a significant difference between the groups regarding the scores of communication (P=0.002), gross motor (P<0.001), fine motor (P<0.001), and problem-solving (P<0.001) skills. However, no significant difference was found between the groups regarding the personal/social developmental status (P=0.559). Conclusion According to the results, a higher risk of developmental delay was observed in VLBW infants as compared to NBW neonates; therefore, it is recommended to perform developmental screening tests for timely detection of high-risk children and early diagnostic and therapeutic interventions. [ABSTRACT FROM AUTHOR]

Objectives The current study aimed to assess the need for emergency neuroimaging in children with first CFC. Materials & methods This is an analytic cross-sectional study conducted on children aged 6-60 months with first CFC. Data were gathered by a form that evaluates age, sex, imaging type, body temperature, the duration of fever before convulsion, the duration and frequency of convulsion, and family history of FC. Data were analyzed via the Fisher Exact Test in SPSS version 19. Results A total of 111 patients participated in this study with first CFC and mean age of 21.18±11.83 months. Regarding the type of CFC, the results showed that the highest and lowest frequencies belonged to multiple and multiple focal prolonged FC, respectively. Upper respiratory infection was the most common diagnosis. Also, 2 non-significant abnormal neuroimaging results were noted. Conclusion Performing emergency neuroimaging in patients with first CFC was not mandatory in the absence of developmental disorders, abnormal neurologic examination, underlying neurological disorder, and head trauma. This is an important result in our country due to the lack of access to neuroimaging modalities in many hospitals, and the irradiation risk in childhood and its high cost. [ABSTRACT FROM AUTHOR]

Telemedicine which is defined as the provision of healthcare services by a physician at a distance, is a method that provides it in many general and specialized field of medicine even in rural areas. COVID-19 is a singular disorder with an incompletely defined medical course, mainly for youngsters and susceptible populations. In 5% of COVID-19, severe diseases which needs intensive care unit has been reported. As it spreads rapidly and regarding it contagious feature even by healthcare facilities, new models of care are needed to decreases the probability of face-to-face contact between patients and caregivers. The integration of eHealth for patients with COVID- 19 is indicated as a global emergency to reduce virus transmission. [ABSTRACT FROM AUTHOR]

In the past 3 decades, ultrasonography has gifted internal organs visualization to physicians to have a better detection of various diseases. Previously performed solely by radiologists as a method with high feasibility and accuracy, recently ultrasonography is being recommended and used by many other physicians in practice. Ultrasonography not only can be used to diagnose and manage kidney diseases, but also is an essential tool in nephrology for the guidance of invasive procedures. This method of bedside ultrasonography by physicians in real time is called point-of-care ultrasonography (POCUS). Given the limitations of collecting information by routine physical examination in kidney diseases and the simplicity of performing ultrasonography to examine kidney location, architecture, and restricted pathologies, nephrologists that have been lagging in this area, should join the spectrum of clinicians using the POCUS to provide safe and rapid diagnosis of common renal abnormalities. Although physicians may imagine POCUS as a difficult tool to use and there has been an initial resistance and reluctance to use ultrasonography by nonradiologists, investigations have shown that learning and doing POCUS was possible even for undergraduate medical students during a short course. According to the collected evidence in the field of POCUS in different branches of medicine, it seems that it should be added to nephrology examination room in the near future. [ABSTRACT FROM AUTHOR]

Is Infantile Colic an Early Life Expression of Childhood Migraine? M Tabrizi et al. Iran J Child Neurol 11 (3), 37-41. Summer 2017. more Get Full Text: Opens in new window Free PMC article OBJECTIVE: Migraine is the mosyndrome and infantile colic is a common cause of infantile cry. The pathogenesis of migraine and colic has not been well established and different factors may cause them. There is an association between infantile colic and the occurrence of childhood migraine. We aimed to assess whether infantile colic could be noted as an early life expression of childhood migraine or not. MATERIALS & METHODS: This retrospective case-control study was conducted on 5-15-year-old childrenin Rasht, Iran during 2015-2016. Forty-one cases were children with migraine with or without aura. Overall, 123 Control participants were children with the same age referred to the pediatric clinic for routine care. Data were gathered by a checklist including age, sex, birth weight, family history of migraine, the occurrence of colic and type of feeding during infancy. Data were reported by descriptive statistics and analyzed by Fisher exact test using SPSS ver. 19. RESULTS: Overall, 164 children with the mean age of 8.36± 2.53 yr were enrolled. Seventeen (41.46%) children with migraine vs. 44 (35.7%) children in control group had the positive history of infantile colic and Fisher exact test noted significant relation between migraine and colic. Thirty-three children with infantile colic (46.57%) had the positive family history of migraine, which was significantly higher than 27 children without colic (29.7%). There was a significant relation between infantile feeding and migraine. CONCLUSION: There is a probable relation between colic and migraine, therefore, migraine and colic as 2 pain syndromes may have a common pathophysiology and further investigations on this common pathophysiology is justified. [ABSTRACT FROM AUTHOR]

OBJECTIVE: Infantile spasms is diagnosed late even by expert pediatricians. Late diagnosis (later than 3 weeks) can have a negative effect on the long-term prognosis. We aimed to investigate infantile spasms treated with intravenous methylprednisolone pulse. MATERIALS & METHODS: In this case series study, 20 infants with infantile spasms in 17-Shahrivar Hospital, Rasht, Iran were enrolled. Drugs were administered based on Mytinger protocol that included 3 days of methylprednisolone pulse and 56 days of oral prednisolone. The control of spasms and the omission of hypsarrhythmia in infants follow-up were the primary and secondary outcomes, respectively. Remission was indicated if the caregivers mentioned no spasms or >50% decrease regarding drug initiation for at least 5 consecutive days and the electroencephalography during sleep period noted the omission of hypsarrhythmia. RESULTS: Eleven female (55%) and 9 male (45%) patients with the mean age of 4.95±1.39 months were enrolled. Mean rapid remission was noted as 4.41±1.50 days. Twelve patients (60%) noted early remission. seizure was controlled in 3(15%) patients completely after 24 months. Five (25%) occasional seizures were noted controlled by routine anticonvulsant drugs after 24 months and 12 (60%) no response was mentioned. Most of the patients (65%) had cryptogenic etiology for infantile spasms. Uncontrolled seizure was mentioned after initial remission. CONCLUSION: Methyl prednisolone is an appropriate drug based on easy administering, low cost, and its accessibility. [ABSTRACT FROM AUTHOR]