A Rare Case of Wolfram Syndrome

A 15-year-old boy was referred because of bilateral hydroureteronephrosis. He had poorly controlled diabetes mellitus since he was 4 years old. He had polyuria and polydipsia. On water deprivation test, he developed hypernatremia along with increased levels of BUN and creatinine. He also had hypertension that was effectively managed with losartan. Bilateral optic atrophy was detected on ophthalmoscopic examination. It seems that this boy is a rare case of Wolfram syndrome.Keywords: Diabetes Insipidus; Diabetes Mellitus; Wolfram Syndrome; DIDMOAD; Deafness; Optic Atrophy

Testicular Feminization in two Siblings; Is This the Same Mutation?

Objective: Complete form of androgen insensitivity was first described by Morris and Mahesh in 1960s. This X-linked trait occurs in one of 20,000 to 64,000 male births. Androgen receptor gene is located on the short arm of the X chromosome. 200 mutations are known at this locus. External genital tract is phenotypically feminine with short blind vagina. Uterus, often Fallopian tubes, Mϋllerian and Wolffian remnants are absent. End organ insensitivity leads to sparse pubic and axillary hair. Patients often present as adolescent girls with primary amenorrhea and bilateral inguinal hernia. Case Report: Third offspring of a first cousin marriage was assessed in routine neonatal examination a few hours after birth. Systemic physical examination was normal, external genital tract had normal female appearance. There was a bilateral direct inguinal hernia containing ovoid masses. Karyotype was 46XY. The first offspring was 15 years old and raised as female, with history of bilateral orchiectomy and herniorrhaphy in early infancy. Recent laparoscopy showed that uterus was absent. Karyotype was 46XY. Other sibling was a normal male with 46XY karyotype and coincidental idiopathic nephrocalcinosis. May be these are same mutations on the same gene locus. DNA analysis and sequencing will clear this dilemma. Conclusion: Ocurrence of androgen insensitivity has been reported in literature for 3 decades. In the recent decade, authors achieved the ability to clarify the mutations completely. DNA sequencing and assessing 5 alpha reductase activity in genital skin fibroblasts in these two siblings is strongly recommended

Design and implementation of a children vaccination reminder system based on short message service

Background: Most problems related to quality of care and patient safety are related to human negligence. One of the causes of these problems is forgetting to do something. This problem can be avoided with information technology in many cases. Some forgotten are very important. Among these is failure to comply with vaccination schedule by parents that can result in inappropriate outcomes. In this study, we developed and evaluated a SMS reminder system for regular and timely vaccination of children. Methods: In this developmental-applied research, firstly, a child vaccination reminder system was designed and implemented to help parents reduce the forgetfulness. This system based on the child's vaccination history and the date of birth, offer time and type of future vaccines. Then the parents of 27 children, that their vaccination was between 22 June and 21 August 2015, referred to Children's Medical Center, were sent text messages by using this system. We evaluated the accuracy of the system logic by using some scenarios. In addition, we evaluated parents' satisfaction with the system using a questionnaire. Results: In all cases but one, the system proposed the type and date of future children vaccines correctly. All the parents who have received text messages had good perception and satisfaction on the majority of questions (total mean score of 4.15 out of 5). Most parents (4.92 out of 5) stated that using the system to remind their visit for child immunization was helpful and willing to offer the system to their friends and other families. Conclusion: Using the short message system is beneficial for parents to remind their children’s vaccination time and increases their satisfaction. So, it can be considered as an important and essential tool in providing healthcare services. SMS is an easy, cheap and effective way to improve the quality of care services

Apparent Life-Threatening Events in Neonatal Period: Clinical Manifestations and Diagnostic Challenges in a Pediatric Referral Center

Objective: Apparent Life-Threatening Events (ALTEs) is an episode that is frightening to the observer and is characterized by some combination of apnea, color change, altered muscle tone, choking, and gagging. This study was designed to evaluate and follow up neonates who presented with clinical manifestation of an ALTE in a year. Methods: In this prospective observational study, all of the neonates with episode of ALTE who were admitted to the Children's Medical Center (CMC) in Tehran, from June 15th 2010 to May 14th 2011 were enrolled in the study. Data from patients consisting of history, physical examinations, and paraclinical findings were recorded in a checklist and all followed up 3 to 6 months after discharge. Findings: During the study period 18 neonates were admitted due to ALTE episode(s) with mean age of 15±13 days. Nine (50%) neonates had previous attacks of ALTE. The most frequent complaint was cyanosis in 12 (67%) and apnea in 8 (44%) patients. In 10 (56%) the event lasted less than one minute, 13 (72%) were awake, 17 (95%) in supine position and 13 (72%) on their parent's lap. Primary antagonistic impression on admission was sepsis in 11 (61%) and concomitant seizure in 5 (28%). The most common final diagnosis according to repeated physical examinations, result of paraclinical investigations and follow up was sepsis 4 (22%) and aspiration 9 (50%). ALTE recurred in none of the neonates during follow up. Conclusion The rate of ALTE seems to be higher than in this study owing to high incidence of recurrent ALTE. Although most of these attacks regress spontaneously, more attention should be paid for the underlying diseases

Apparent Life-Threatening Events in Neonatal Period: Clinical Manifestations and Diagnostic Challenges in a Pediatric Referral Center

Objective: Apparent Life-Threatening Events (ALTEs) is an episode that is frightening to the observer and is characterized by some combination of apnea, color change, altered muscle tone, choking, and gagging. This study was designed to evaluate and follow up neonates who presented with clinical manifestation of an ALTE in a year. Methods: In this prospective observational study, all of the neonates with episode of ALTE who were admitted to the Children's Medical Center (CMC) in Tehran, from June 15th 2010 to May 14th 2011 were enrolled in the study. Data from patients consisting of history, physical examinations, and paraclinical findings were recorded in a checklist and all followed up 3 to 6 months after discharge. Findings: During the study period 18 neonates were admitted due to ALTE episode(s) with mean age of 15±13 days. Nine (50%) neonates had previous attacks of ALTE. The most frequent complaint was cyanosis in 12 (67%) and apnea in 8 (44%) patients. In 10 (56%) the event lasted less than one minute, 13 (72%) were awake, 17 (95%) in supine position and 13 (72%) on their parent's lap. Primary antagonistic impression on admission was sepsis in 11 (61%) and concomitant seizure in 5 (28%). The most common final diagnosis according to repeated physical examinations, result of paraclinical investigations and follow up was sepsis 4 (22%) and aspiration 9 (50%). ALTE recurred in none of the neonates during follow up. Conclusion The rate of ALTE seems to be higher than in this study owing to high incidence of recurrent ALTE. Although most of these attacks regress spontaneously, more attention should be paid for the underlying diseases

Clinical and Paraclinical Screening for Celiac Disease in Children with Intractable Epilepsy

Background. Celiac disease is the inflammatory entropy caused by hypersensitivity to gluten, which occurs in susceptible individuals. Some studies have suggested a link between celiac disease and epilepsy in children. Our aim was to screen for clinical and paraclinical features of celiac disease in children with intractable epilepsy. Methods. This was a cross-sectional study. Children aged 2 to 18 years with refractory epilepsy that referred to the pediatric neurology clinic within one year (2018–2019) were enrolled. Demographic and clinical characteristics of patients, especially clinical manifestations of celiac disease, were recorded in a questionnaire. A venous blood sample was sent to determine the total IgA, anti-tTG (IgA), and anti-endomysial antibody (IgA). Endoscopy was performed in cases where the celiac serological test was positive. Results. Seventy children with idiopathic drug-resistant epilepsy (44 boys) were evaluated. The height-for-age index was 49.2% and the weight-for-age index was 38.2% less than normal. Constipation (48.6%), anorexia (25.7%), and abdominal pain (21.4%) were the most common gastrointestinal symptoms. Celiac serological tests were negative in all children. Therefore, endoscopy and bowel biopsy were not performed in any case. Conclusion. Celiac disease was not found in any patient with intractable epilepsy. Gastrointestinal symptoms and growth disorders in this group may be related to the underlying disease or medications and not to celiac disease