Duchenne Muscular Dystrophy: A Practice Update

Duchenne Muscular Dystrophy (DMD) is an X-linked recessive disorder caused by a deficient or defective synthesis of dystrophin protein. DMD is the most common form of muscular dystrophy with an incidence of about 1 in 5000 live boys. Though primarily resulting in progressive muscle weakness, it affects various other organs as well. Heart, brain and smooth muscles are commonly involved, because of expression of dystrophin in these organs. The management of DMD requires a multidisciplinary liaison, anticipatory management and prevention of the complications. Consensus based international recommendation for management of DMD have been published in the year 2010, recognizing DMD as a multi-systemic and progressive disease. The proper management of a boy with DMD can improve ambulation, independence, quality of life and delay disease – related complications. A lot can be done to comfort affected children and their care givers even in a resource limited setting. This review discusses these options and also the current understanding of the disease.     

Clinical profile of pediatric somatoform disorders

OBJECTIVES: To study the prevalence, pattern, clinical and socio-demographic characteristics of somatoform disorders in children. METHODS: From Aug 2004 to July 2005, children up to 18 years with unexplained physical symptoms were evaluated prospectively using DSM-IV criteria. Detailed evaluation followed for those meeting criteria. RESULTS: The prevalence of Somatoform disorders was 0.59% and 0.78% among out-door and in-door patients respectively. Among 124 children (40 boys and 84 girls) meeting criteria, conversion disorder was the commonest (57.3%), followed by undifferentiated somatoform disorder (25.2%). Girls were significantly more represented among conversion disorder patients compared to other groups of somatoform disorders (78.9 vs. 52.8 %, P=0.002). In conversion disorder, 2/3rd patients presented within 3 months, whereas in other somatoform disorders, 2/3rd patients presented within 3 months after symptoms. Fainting attacks (52.1%) and ataxia (43.7%) in conversion disorder and pain abdomen (52.8%) and headache (52.8%) in other somatoform disorders, were the commonest symptoms. Stressors were identified in 73.4% and acute precipitating stressors were present in 14.4% children. Boys had significantly higher rates of poor inter-personal relations and communication problems within the family (72.5% vs. 41.7%, P=0.001), while girls had significantly higher rates of conflicts with the parents and other family members (21.4% vs. 5%, P=0.02). CONCLUSION: Somatoform disorders, particularly conversion disorder is commoner in girls. Important stressors are poor inter-personal relations and communication problems within the family in boys, and conflicts with family members among girls.     

Full Outline of Unresponsiveness score and the Glasgow Coma Scale in prediction of pediatric coma

BACKGROUND: This study was done to compare the admission Full Outline of Unresponsiveness (FOUR) score and Glasgow Coma Scale (GCS) as predictors of outcome in children with impaired consciousness.     

Clinical Utility of MRI Brain in Children with Non-traumatic Coma

Objectives

To determine characteristics that help identify children with acute encephalopathy who benefit from an MRI (magnetic resonance imaging) of the brain. The secondary objective was to determine the adverse events associated with the MRI procedure.

Methods

In this single center, prospective, observational study. Children (2 mo - 12 y) presenting with impaired consciousness were screened. Those with acute non-traumatic encephalopathy (Glasgow Coma Score of 12 or less) undergoing their first in-patient MRI brain were included. The decision regarding MRI brain was taken by the treating unit. The clinician taking care of the child was requested to categorize the information obtained from MRI into one of the following categories (as per definition): Contributory MRI [Diagnostic and/or Therapeutic, Suggestive or Additive and/or Prognostic (as per definitions)] OR Non-contributory MRI (If results of the MRI did not alter the management of the child in any manner).

Results

During the study period, 16,667 children presented to the pediatric emergency, of which 496 children were admitted with a diagnosis of acute encephalopathy and100 children were enrolled for this study. Ninety-two children had a febrile encephalopathy. Seventy-seven (77%, 95% CI 69–85%) children had an MRI that was contributory. In 64(78%) out of 82 children who underwent both CT and MRI, the MRI showed additional findings. Those with abnormal CT were significantly more likely to have a contributory MRI (65.6% vs. 22.2%, P = 0.001). There were 18 adverse events during the MRI procedure.

Conclusions

MRI contributes in management decisions in over three-fourth of children presenting with non-traumatic coma and should be the neuroimaging of choice in acute non-traumatic coma. There are no pre-MRI clues to identify which child is likely to benefit from the MRI. However, if CT detects an abnormality, MRI is likely to significantly add to the information, contributing directly to the management.

     

An Indian family with tyrosine hydroxylase deficiency

Background

Tyrosine Hydroxylase deficiency is a rare neurotransmitter disorder.

Case Characteristics

An Indian family with the disorder.

Observation

Phenotypic variation, elevated serum prolactin, genetic confirmation, and partial treatment-responsiveness.

Messages

Tyrosine Hydroxylase deficiency is a treatable inborn error of metabolism and serum prolactin assists in diagnosis.