Brachial Plexus Birth Injury: A Single-Center Study.

Infants can sustain traction injury to brachial plexus nerves during birth, called brachial plexus birth injury (BPBI). While spontaneous recovery is possible, upper extremity weakness can linger. We report our experience at a brachial plexus clinic from a retrospective chart review of infants with BPBI from September 2017 to September 2019.

A novel variant in the dystonin gene causing hereditary sensory autonomic neuropathy type VI in a male infant: Case report and literature review.

The DST gene is located on chromosome 6p and encodes for a large protein. Alternative splicing of this protein produces the neuronal (a1-a3), muscular (b1-b3), and epithelial (e) isoforms. Hereditary sensory and autonomic neuropathy (HSAN) type VI is a rare autosomal recessive disorder due to mutations affecting the a2 isoform.

A Case of Mercury Toxicity Complicated by Acute Inflammatory Demyelinating Polyneuropathy.

A 13-year-old African American male presented with 2 months of subacute altered mental status, ptosis, areflexia, disordered gait, constipation, weight loss, abdominal and testicular pain, and hyperhidrosis. Initial workup at our facility was unrevealing until elevated serum mercury level was detected. Diagnosis of mercury toxicity was confirmed, and chelation therapy with succimer was started.

Atypical Presentation for Friedreich Ataxia in a Child.

The classic phenotype of Friedreich ataxia is characterized by dysarthria, progressive limb and trunk ataxia, loss of reflexes, and gait disturbance with the onset of disease before the second decade. Homozygous trinucleotide repeat expansion of GAA in the FXN gene is found in 98% of patients. Two-5% of all patients have a repeat expansion on one allele and a point mutation on the other allele.

The charges for seizures in the pediatric emergency room: a single center study.

Background: The direct charges for emergency department visits resulting from recurrent seizures are significant, and home intervention with abortive medications can be cost-saving. Over a 1-year period, we evaluated children with seizures who were seen in the emergency department, stabilized, and released. The information is necessary to assess the pharmacoeconomic advantages of at-home interventions for seizure emergencies.

An unusual cause of flaccid paralysis and coma: baclofen overdose.

Baclofen is a γ-aminobutyric acid (GABA) agonist that is commonly prescribed for the treatment of spasticity in children. The clinical indications for baclofen use in the pediatric population have increased in recent years. Prescribing baclofen mandates education regarding abrupt withdrawal and overdose because of the severe clinical reactions this can precipitate.

Apparent marked reduction in early antivenom reactions compared to historical controls: was it prophylaxis or method of administration?

Objective: Serious morbidity and mortality following snakebite injuries are common in tropical regions of the world. Although antivenom administration is clinically effective, it carries an important risk of early anaphylactic reactions, ranging from relatively benign nausea, vomiting, and urticaria to life-threatening angioedema, bronchospasm and hypotension. Currently, no adequately powered study has demonstrated significant benefit from the use of any prophylactic drug.