The purpose of this study was the association between urinary disorder (UD), spastic hypertonia and assistive device with falling. In this analytical cross sectional study, 140 participants with Expanded Disability Status Scale (EDSS) score below 7; aged 20 to 55 years were divided into two groups according to their reports of falls in the past 6 months. Participants selected from Tehran outpatient clinics by convenient sampling. The presence or absence of UD, fall history and using assistive device was recorded by self-report. In addition, spastic hypertonia was assessed by Ashworth scale in knee extensors and ankle plantar flexors muscles for lower extremities. Finally, we used Mann whitney, chi-square test and Spearman correlation coefficient for analyzing. We found more UD, spastic hypertonia and using assistive device in MS with history of falling compared with MS without history of falls (P < 0.05). Additionally, the direct and significant relationship existed between UD, spastic hypertonia and using assistive device with falls. MS people with history of falls that have UD, spastic hypertonia and using assistive device are in risk of falling than MS patients without history of falling.

The survival of premature infants has improved in the recent era due to advances in perinatal and neonatal healthcare practices. These infants are at risk of neuro-sensorimotor impairment, as well as learning and behavioral disorders. A longitudinal follow-up study was planned over 6 months at a High-Risk Clinic, Civil Hospital, Ahmedabad, India, to conduct the neurological examination and hearing assessment of premature infants born with gestational age less than 32 weeks. Infants who were born preterm at <32 weeks of gestational age and those attending the high-risk clinic at 3, 6, 9, and 12 months of corrected gestational age were enrolled in the study. These infants were assessed for tone via the Amiel-Tison method and hearing impairment via BERA. During the study period, 69 infants were included with a mean gestational age of 30.4±1.2 weeks. On the assessment of tone, at 3 months of corrected age, 3 and 1 infants had hypertonia and hypotonia, respectively. At 6 months of corrected age, 4 and 3 infants had hypertonia and hypotonia, respectively. Moreover, 1 and 2 infants had hypertonia and hypotonia at 9 months of corrected age, respectively, and 1 infant had hypertonia at 12 months of corrected age. Out of 69 enrolled infants, 5 (7%) infants had hearing loss at 3 months of corrected gestational age, whereas 64 (93%) infants had normal hearing assessment via BERA at the corrected gestational age of 3 months. Preterm infants are at very high risk of neurodevelopmental impairment and need frequent follow-up visits and early intervention.

The complications associated with spastic cerebral palsy can affect the physical ability and quality of life of individuals suffering from this motor disorder. The aim of this study was to assess the relationship between quality of life and hypertonia in adults with spastic cerebral palsy. In an analytical cross sectional study, 70 subjects with the diagnosis of spastic cerebral palsy from three Ra’ad Rehabilitation Goodwill complexes in Tehran and Karaj cities took part in this study through convenient sampling. The severity of spasticity and contracture of the knee flexors were measured by Modified Tardieu Scale. Also the quality of life was assessed through World Health Organization quality of life-BREF questionnaire. To analyze data, Pearson and spearman correlation coefficient were used. Participants of this study were 42.90% male, 57.10% female with mean age 26.24±5 years. No correlation existed between quality of life with knee flexor muscles spasticity. However, psychological and environmental domains showed low correlations with knee extension range (respectively r=0.26 and r=0.28; P<0.05). The influences of the mechanical component of hypertonia (contracture) on the quality of life are more prominent than neural factors such as spasticity.

There are some controversies about the value of modified Ashworth Scale (MAS) for assessing spasticity. The goal of this study was to investigate if there is any correlation between scores obtained from MAS for wrist spasticity and electrophysiological recordings as the objective measure of spasticity. In this cross-sectional study, 34 stroke patients were employed. Wrist spasticity was clinically measured by means of MAS. Also, an electromyogram (EMG) machine was used to elicit Hmax and Mmax from the flexor carpi radialis muscle. Spearman’s correlation coefficient test was used to investigate potential correlation between clinically and electrophysiologically measures of spasticity. The observed relation between MAS and EMG recordings was not statistically significant (rho=0.183 P>0.05). Our findings suggest that MAS may be a useful tool for grading hypertonia, but it is not a valid measure of spasticity in selected patients.

Canavan disease is an autosomal recessive leukodystrophy due to accumulation of N-acetyl aspartic acid (NAA) in brain، cerebrospinal fluid (CSF)، and urine characterized by early onset developmental delay، initial hypotonia progressing to hypertonia، sleep disturbance and macrocephaly. Brain magnetic resonance imaging (MRI) shows white-matter changes. The best method for diagnosis is determined NAA in the urine. We report a 30-month-old boy manifesting his symptoms when he was 6 months old. Brain MRI showed high signal intensity in T2 images. High-performance liquid chromatography (HPLC) and electroencephalography (EEG) were normal. His symptoms were generalized tonic-clonic seizures at the age of 22 months and spasticity، hypotonia، macrocephaly، joint stiffness، and sleep disturbance at the age of 30 months. The patient was diagnosed by assessing NAA level in urine.

Progressive encephalopathy with or without lipodystrophy is a rare autosomal recessive childhood-onset seipin-associated neurodegenerative syndrome, leading to developmental regression of motor and cognitive skills. In this study, we introduce a patient with developmental regression and autism. The causative mutation was found by exome sequencing.
The proband showed a generalized hypertonia and regression of all developmental milestones. Based on the advantages of next-generation sequencing (NGS), whole exome sequencing (WES) was requested. The functional significance of variants was evaluated by NGS-specific prediction servers. Sanger sequencing was used for segregation analysis in the family.
There was no specific sign in the clinical and paraclinical investigations of the patient to establish a conclusive clinical diagnosis. WES detected a known homozygous nonsense mutation in BSCL2 (NM 001122955.3:c. 985C>T; p.Arg329*). The variant is segregating in the pedigree with an autosomal recessive pattern.
Exome sequencing is a robust method for identifying the candidate gene variants in Mendelian traits.

In neonates with more than one clinical abnormality, we always look for a unifying diagnosis that explains the entire clinical presentation. In rare instances, two conditions can co-exist. Here we report a neonate born out of consanguineousmarriage presenting at 48 hours of life with microcephaly, encephalopathy, hypertonia. He had excessive weight loss,persistent hyperkalaemia, shock and 17- hydroxyprogesterone was elevated. Steroids were started for adrenal insufficiency. Magnetic resonance imaging (MRI) of the brain revealed T2 hyperintensity of cerebral white matter and cerebral atrophy. Clinical exome sequencing (CES) revealed a pathogenic homozygous missense variation of CYP21A2 gene responsible for congenital adrenal hyperplasia and also a homozygous missense variant of unknown significance (VUS) of VARS gene implicated in Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy (NDMSCA). Baby was neurologically abnormal at discharge. In the setting of consanguinity, there is a possibility of two genetic conditions. Clinical exome sequencing is useful in demystifying the diagnosis in complex clinical presentation.

Chronic anal fissure is the most common cause of anal pain associated with internal anal sphincter hypertonia. Reduction of hypertonocity is a special treatment for fissure healing. For this purpose chronic anal fissures were conventionally treated by anal dilatation or by lateral sphincterotomy. However, both of these methods may cause a degree of incontinence in some patients. The uptake of medical therapies that create a reversible chemical sphincterotomy has recently become widespread. The aim of this prospective clinical trial study was to assess the effectiveness of nifedipine in healing anal fissure, a calcium channel blocker that reduces sphincter pressure. A single-blind randomized comparative trial was setup to compare traditional treatment with stool softeners and 2% lidocaine cream against 0.5% nifedipine cream for 4 weeks. 110 patients were included in this study, 60 patients in the nifedipine group and 50 patients in the control group and the therapeutic outcome and side effects were recorded. Healing had occurred in 70% of patients in the nifedipine group and in 12% of patients in the control group after 4 weeks treatment (P < 0.005). Recurrence of symptoms occurred in four of healed patients in the nifedipine group and three patients in the control group in two months. The final result of nifedipine application after 12 months follow up was recurrence in 11 patients (26.19%). Mild headache occurred in four patients (6.6%) of the nifedipine group. Patients in the nifedipine group showed significant healing and relief from pain compared with patients in the control group. Recurrence rate with nifedipine use in spite of control of predisposing factors such as constipation was significant. Another finding was low complication rate with this treatment.

ObjectiveSpastic 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 & MethodsSixty 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.ResultsThirty-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.ConclusionTizanidine is effective and safe in decreasing the spastic hypertonia associated with cerebral palsy in children.

HIV has infected 4.4 million children worldwide and has resulted in 3.2 million deaths. The progression of vertically acquired HIV infection appears to have a trimodal distribution. Approximately, 15% of children have rapidly progressive type of disease, while the remainders have either a chronic progressive course or an infectious pattern typical of that in adults. Mean survival is about 10 years. Children can be asymptomatic for many years, and the appearance of an opportunistic infection in a 10-year-old child in whom AIDS is subsequently diagnosed is not rare. Neurologic findings in an infected child are: Motor delay, hypotonia, hypertonia, and/or pyramidal tract signs which may indicate progressive HIV encephalopathy or opportunisic infection of the CNS. Our case was an 8-year old boy presented with fever, vomiting, and loss of consciousness.The patient was a known case of HIV infection due to mother’s infection in perinatal period and was on treatment from 3 years before his referral. He was presented to our hospital for the fever which had started one month earlier and refractory vomiting. The patient got in coma on the chest examination; tachypnea, crackles and heart murmur were auscultated. In neurologic examination, anisocoria, right-sided hemiparesis, increased deep tendon reflexes in the right side and extensor plantar reflex, Kernig and Brudzinski signs were detected. Eventually, the patient died after 46 days of hospitalization in pediatric intensive care unit because of full sepsis..