Review Article

Ullrich Congenital Muscular Dystrophy

Goknur Haliloglu, Haluk Topaloglu

Iranian Journal of Child Neurology, Vol. 5 No. 3 (2011), , Page 1-13


Ullrich congenital muscular dystrophy is a rather severe type of congenital

muscular dystrophy with early onset features related to motor development.

In general it is inherited in autosomal recessive principles, however in the

Western world mostly seen with de novo dominant mutations in the collagen

VI genes. Milder form of the condition is the Bethlem myopathy. There may be

overlap forms in the clinic resembling the Ehler-Danlos syndrome. There has

been some radical efforts for cure especially through the apoptosis cascades.

Key words: Ullrich congenital muscular dystrophy, collgen VI genes, Bethlem

myopathy, autophagy.

Research Article


Prolonged and uncontrolled refractory status epilepticus (SE) is a life-threatening medical emergency in children (1,2,3). There is no consensus on the optimal therapy for refractory status epilepticus (1). The aim of this study was to develop a new method for treating patients with refractory status epilepticus.

Materials & Methods

Ten children with refractory status epilepticus in Mofid Hospital, who did not respond to 10 μg/kg per min of intravenous midazolam, had their dose of midazolam increased to 30 μg/kg per min. All children were monitored for the development of side effects.


Ten children with no response to low-dose midazolam were given a higher dose of midazolam, and 5 (50%) children had a good response. These patients had significantly different response to high-dose midazolam.

One patient in the high-dose midazolam group was intubated and required mechanical ventilation. The duration of stay in the hospital and PICU and on mechanical ventilation in patients with no response to low-dose midazolam following with other drugs was longer than in the high-dose midazolam group.

No death occurred in high dose midazolam group.


High-midazolam dose drip infusion is a safe and effective protocol for refractory status epilepticus in children.


Refractory status epilepticus; midazolam; mortality; childhood

The Efficacy and Safety of Tizanidine in Treating Spasticity in Children with Cerebral Palsy

Ali Nikkhah, Mahmoud Mohammadi, Mahmoud Reza Ashrafi, Gholamreza Zamani

Iranian Journal of Child Neurology, Vol. 5 No. 3 (2011), , Page 19-22


Spastic cerebral palsy (CP) is one of the most difficult and disabling conditions that requires medical attention and treatment. The aim of this study was to assess the efficacy and safety of oral tizanidine in treating spasticity in children with spastic CP.

Materials & Methods

Sixty children with spastic cerebral palsy were enrolled in a double-blind, placebo-controlled, randomized clinical trial. These patients were randomly assigned to receive tizanidine or a matching placebo. Sample normalization was not performed either before or after the study in these two separate groups. Nevertheless, no significant statistical difference was found between the two concerned groups in terms of age, sex, or type of spasticity. Each patient received the treatment for 2 weeks between May 2010 and February 2011.


Thirty-one boys and 29 girls with a mean age of 7.3 ± 3.4 years were evaluated. Our study revealed that spasticity was reduced in 50% of the patients receivingthe drug tizanidine compared to only 6.7% of the patients receiving the placebo. Additionally, 66.7% of patients reported less pain on the affected side receivingtizanidine (group A) compared to 13.3% of patients receiving the placebo (group B). No serious side effects were reported in this study.


Tizanidine is effective and safe in decreasing the spastic hypertonia associated with cerebral palsy in children.

Keywords: Tizanidine; spasticity; cerebral palsy; children    


Critical illness polyneuropathy and myopathy (CIPNM) is a major complication of severe critical illness. Previous studies have suggested that many risk factors such as sepsis, multiorgan failure, and neuromuscular blocking agents play a role in CIPNM pathogenesis. The aim of this study was to evaluate possible risk factors in the development of CIPNM in a pediatric intensive care unit (PICU). 

Materials & Methods

In this observational study, we recruited 57 patients admitted in the PICU of the Tabriz Pediatric Hospital. CIPNM was diagnosed in 13 (22.8%) patients on the basis of the clinical and electrodiagnostic findings. Different variables such as age, sex, the pediatric risk of mortality (PRISM) score, duration of mechanical ventilation and PICU stay, accompanying pathologic conditions, medications, and in-hospital outcome were compared between the CIPNM and non-CIPNM groups.


Compared to the non-CIPNM patients, the CIPNM patients showed significantly more frequent sepsis (6.8% vs. 38.5%, odds ratio [OR] = 8.5, 95% confidence interval [CI] = 1.7-43.1) and multiorgan dysfunction (43.2% vs. 76.9%, OR = 4.4, 95% CI = 1.1-18.2). Midazolam was administered more frequently in the non-CIPNM group than in the CIPNM group (88.6% vs. 53.8%, OR =0.2, 95% CI = 0.0-0.6). There was no significant difference between the 2 groups withrespect to parameters such as age, sex, PRISM score, duration of mechanical ventilation and PICU stay, other accompanying pathologic conditions, and other medications. The mortality rate was 4.5% in the non-CIPNM group and 15.4% in the CIPNM group.In the multivariable analysis, sepsis and midazolam administration were the only significant contributors to the development of CIPNM.


Sepsis is an independent risk factor for the development of CIPNM. However, midazolam administration seems to be an independent protective factor against CIPNM.
Keywords: Critical illness polyneuropathy and Myopathy; pediatric intensive care unit; risk factors    

The Frequency of Urinary Tract Infection among Children with Febrile Convulsion

Ali Akbar Momen, Seyyed Mehdi Monajemzadeh, Maryam Gholamian

Iranian Journal of Child Neurology, Vol. 5 No. 3 (2011), , Page 29-32

This study was conducted to determine the frequency of urinary tract infection(UTI) among children with febrile convulsion (FC).
Materials & Methods
We analyzed the hospital records of 137 children who had been admitted to thepediatric ward from March 2004 to February 2007 because of FC. Informationsuch as age, sex, developmental status, type of FC, family history of seizure,urine sampling method, and the results of antibiograms were recorded.
The age distribution of 137 patients (82 boys, 55 girls) was as follows: 1-6 monthsof age, 1 infant (0.7%); 6-12 months, 21 infants (15.3%); 1-3 years, 75 (54.8%);3-5 years, 30 (21.9%); and more than 5 years, 10 (7.3%). Three out of the 82boys and 6 out of the 55 girls had UTI (3.7% vs. 10.9%, total, 6.6%). The agedistribution of these 9 patients was as follows: 1-6 months, 1 patient (11.1%);7-12 months, 5 (55.6%); and 1-3 years, 3 (33.3%). The relative incidence of UTIwas 6.6%. The most common organisms causing infections were Escherichiacoli in 8 and Proteus spp., in 1 patient (88.8% vs. 11.1%). Simple FC was seenin all 9 patients with UTI.
In this study, the relative frequency of UTI among children with FC was 6.6%and this frequency was higher that the incidence of UTI in girls and boys(3-5% and 1%, respectively). Therefore, we recommend that UTI should beconsidered as an important cause of FC in children.

Keywords: Febrile convulsion; urinary tract infection; children    

Major Congenital Metabolic Disorders in the First 12 years of Life in 79,100 Consecutively Born Children in Qazvin Province

Abolfazl Movafagh, Fatemeh Saffari, Ghesmat Mohamadzadeh, Marjan Shakiba

Iranian Journal of Child Neurology, Vol. 5 No. 3 (2011), , Page 33-36

Deficient enzyme activity may cause congenital metabolic defects. These defectsare inherited in an autosomal recessive, autosomal dominant, and X-linkedpatterns. This study was aimed at investigating the occurrence of metabolicdiseases in Qazvin Province.
Materials & Methods
This cross-sectional study was performed on 79,100 children aged 12 years orless between 2000 and 2010. Clinical manifestations, laboratory findings, and allother essential information were assessed to precisely diagnose the metabolicdiseases. The sorted information on congenital metabolic defects of the patients,information included in a checklist, and data were analyzed usnig SPSS.
A total of 57 metabolic disorders were recorded. The difference in the prevalenceof metabolic disorders between male (29 cases) and female (28 cases) wasnot statistically significant. The most frequent congenital metabolic disorderamong our patients was phenylketonuria (PKU; 5 per 1,000 cases), and the leastcommon disorder was galactosemia (3 per 1,000 cases).
Timely detection and management of congenital metabolic disorders canhelp save the affected children. Prenatal screening programs, molecular genetherapy, and counseling for consanguineous marriage can play important rolesin reducing the rate of metabolic disorders in this province.
Keywords: Congenital metabolic disorders; prevalence; population; Qazvin    

Case Report

The Relationship between Osteogenesis Imperfecta and Spinal Muscular Atrophy

Babak Soltani, Abdollah Karimi, Alireza Fahimzad, Mahshid Talebian

Iranian Journal of Child Neurology, Vol. 5 No. 3 (2011), , Page 37-39

ObjectiveA 4-month-old female with osteogenesis imperfecta (OI) type II was admitted in PICU of our center due to severe respiratory distress and fever with a diagnosis of severe pneumonia, and mechanical ventilation was initiated. Due to severe hypotonia, NCV and EMG were performed, and spinal muscular atrophy (SMA) type I was diagnosed.
Keywords: Osteogenesis imperfecta; spinal muscular atrophy; hypotonia

A Case Report of Camptomelic Dysplasia

Zia Islami, Hosein Ataii Nakhaei, Razieh Fallah

Iranian Journal of Child Neurology, Vol. 5 No. 3 (2011), , Page 41-44

Camptomelic Dysplasia (CMD) is a rare autosomal dominant congenital dwarfism characterized by shortness and bowing of long bones (camptomelia) and other severe skeletal and extra skeletal malformations. CMD is generally considered to be lethal and the majority of cases die in the neonatal period due to respiratory insufficiency.We hereunder report a term male neonate with characteristic clinical and radiological findings of CMD, hydrocephaly, no sex reversal, and a negative family history of skeletal problems who was born to non-consanguineous  healthy parents and was admitted to Shahid Sadoughi Hospital, Yazd, Iran,immediately after birth due to respiratory distress.The patient required continuous mechanical ventilation support and all attempts to reduce respiratory support failed and the patient died on the 21th day of his life. Camptomelic Dysplasia is a terrible experience for parents; thus, prenatal diagnosis of CMD by ultrasound is essential and mandatory for a better therapeutic intervention.Key words: Camptomelic dysplasia; dwarfism/congenital; bowing of longbones; sex-reversal