ABSTRACT
Traumatic abrasions on human extremities as a result of direct contact with sea, lake, river, or aquarium animals or from traumatic injuries sustained in seawater may develop into solitary or linear granulomatous lesions. One of the more common microbial etiologies for such infections is Mycobacterium marinum. An astute pediatrician, family physician, or nurse practitioner should have a high index of suspicion and obtain specific cultures to support the growth of Mycobacterium species. Mycobacterium marinum infections will not respond to antibiotics typically chosen to treat simple skin and soft tissue infections. Rather, M. marinum infections are best treated by prolonged antimicrobial treatment regimens for 3 to 6 months and, in some cases, may require polypharmacologic therapy. We present the case of a 6-year-old girl who suffered a traumatic abrasion on her right ankle in seawater. For 10 days, the skin infection morphed from cellulitis, papules, pustules, and eventually into sporotrichoid linear granuloma. After several failed antibiotic trials, M. marinum was eventually identified from the depth of her lesions. The patient improved after a 3-month course of clarithromycin. This case report is the first to include pictures demonstrating the clinical progression and resolution of M. marinum infection.
Subject(s)
Mycobacterium Infections, Nontuberculous/diagnosis , Mycobacterium marinum/isolation & purification , Skin Diseases, Infectious/diagnosis , Anti-Bacterial Agents/therapeutic use , Child , Female , Humans , Mycobacterium Infections, Nontuberculous/drug therapy , Mycobacterium Infections, Nontuberculous/etiology , Seawater/microbiology , Skin/injuries , Skin/microbiology , Skin Diseases, Infectious/drug therapy , Wounds and Injuries/microbiologyABSTRACT
D-Bifunctional protein deficiency, caused by recessive mutations in HSD17B4, is a severe disorder of peroxisomal fatty acid oxidation. Nonspecific clinical features may contribute to diagnostic challenges. We describe a newborn female with infantile-onset seizures and nonspecific mild dysmorphisms who underwent extensive genetic workup that resulted in the detection of a novel homozygous mutation (c.302+1_4delGTGA) in the HSD17B4 gene, consistent with a diagnosis of D-bifunctional protein deficiency. By comparing the standard clinical workup to diagnostic analysis performed through research-based whole-genome sequencing (WGS), which independently identified the causative mutation, we demonstrated the ability of genomic sequencing to serve as a timely and cost-effective diagnostic tool for the molecular diagnosis of apparent and occult newborn diseases. As genomic sequencing becomes more available and affordable, we anticipate that WGS and related omics technologies will eventually replace the traditional tiered approach to newborn diagnostic workup.
ABSTRACT
Inhaled corticosteroids (ICS) are drugs of choice for persistent asthma. Less than 500 µg/d of fluticasone are believed to be safe. We found 92 cases of adrenal suppression in PubMed; among these cases there were 13 children who took 500 µg/d or less of fluticasone. Adrenal insufficiency was diagnosed in a 7-year-old boy on 460 µg ICS for 16 months, with a diagnosis of chronic persistent asthma. A random cortisol was nondetectable as was an early morning cortisol. ICS have greatly improved the day-to-day lives of children with chronic persistent asthma. Parents of children younger than 12 years, who use at least 400 µg of inhaled fluticasone (or bioequivalent), must be given oral and written instructions about warning symptoms of hypocortisolism. Major stress such as surgery, gastrointestinal, bronchopulmonary, or other systemic infections, and heat stress may mandate a written plan of action for use by hospital physicians.
Subject(s)
Adrenal Cortex Hormones/administration & dosage , Adrenal Insufficiency/chemically induced , Androstadienes/administration & dosage , Anti-Asthmatic Agents/administration & dosage , Asthma/drug therapy , Administration, Inhalation , Adrenal Cortex Hormones/adverse effects , Adrenal Insufficiency/diagnosis , Adrenal Insufficiency/drug therapy , Albuterol/administration & dosage , Albuterol/analogs & derivatives , Androstadienes/adverse effects , Anti-Asthmatic Agents/adverse effects , Child , Drug Combinations , Fluticasone , Fluticasone-Salmeterol Drug Combination , Humans , Hydrocortisone/blood , Male , Off-Label UseABSTRACT
Previous studies of the accuracy of rapid in-office tests for group A Streptococcus had disparate results, ranging from a sensitivity of 70% to more than 90%. The sensitivity and specificity of 3 commercially available Strep A tests were determined in 2 private pediatric office settings. Acceava Strep A, Genzyme OSOM Strep A, and the Quidel QuickVue Strep A tests were the representative rapid tests for detection of Streptococcus pyogenes. Overnight culture on standard 5% sheep blood agar was the reference standard for this study. All 3 Clinical Laboratory Improvement Amendments-waived tests had sensitivities and specificities that exceeded 95%.
Subject(s)
Antigens, Bacterial/analysis , Bacteriological Techniques/methods , Colony Count, Microbial/methods , Pharyngitis/microbiology , Streptococcal Infections/diagnosis , Streptococcus pyogenes/isolation & purification , Child , Culture Media/chemistry , Humans , Sensitivity and Specificity , Streptococcal Infections/microbiology , Streptococcus pyogenes/immunologyABSTRACT
Previous studies of the accuracy of rapid in-office tests for group A Streptococcus had disparate results, ranging from sensitivity of 70% to more than 90%. The sensitivity and specificity of 3 commercially available Strep A tests were determined in 2 private pediatric office settings. Acceava Strep A, Genzyme OSOM Strep A, and the Quidel QuickVue Strep A tests were the representative rapid tests for detection of Streptococcus pyogenes. Overnight culture on standard 5% sheep blood agar was the reference standard for this study. All 3 CLIA (Clinical Laboratory Improvement Amendments)-waived tests had sensitivities and specificities that exceeded 95%.
Subject(s)
Bacteriological Techniques/methods , Colony Count, Microbial/methods , Culture Media/chemistry , Streptococcal Infections/diagnosis , Streptococcal Infections/microbiology , Streptococcus pyogenes/isolation & purification , Antigens, Bacterial/isolation & purification , Child , Female , Humans , Male , Sensitivity and Specificity , Streptococcus pyogenes/immunologyABSTRACT
The adoption of foreign-born children by U.S. families is an increasingly common occurrence, having tripled in the past 15 years. The demographic features of international adoption have changed dramatically over the same time period. Today's foreign-born adoptees originate from a myriad of nations and cultures and present challenging medical and social problems to the practitioners faced with caring for these children and advising their adoptive families. Military families, cosmopolitan and often stationed overseas, adopt a large proportion of these children from foreign lands. Consequently, military health care providers require a familiarity with the special needs of international adoptees and the unique aspects of international adoption, as practiced by military families. We previously reported on this topic more than a decade ago. Much has changed since then, prompting this update.
Subject(s)
Adoption/legislation & jurisprudence , Family , Internationality , Mass Screening/standards , Military Medicine/standards , Military Personnel/legislation & jurisprudence , Child , Child, Preschool , Communicable Diseases/diagnosis , Foster Home Care , Humans , Medical Records , Needs Assessment , Physical Examination , Prognosis , Public Policy , United StatesABSTRACT
We report four fatal cases of amebic encephalitis in children caused by the free-living pathogenic ameba Balamuthia mandrillaris. The clinical course ranged from subacute to fulminant. Provisional diagnoses were made either shortly before death or postmortem by an indirect immunofluorescent antibody test. Although the four cases occurred in different geographic locations, their common features may have diagnostic value for recognizing future cases of amebic encephalitis. The cases occurred in children 2 to 7.5 years old who were ostensibly immunocompetent and of Hispanic ethnicity. Three of the four children developed hydrocephalus during their illness. Increased awareness and timely diagnosis of this disease entity might lead to earlier intervention with improved outcome.
