A Japanese female, floppy since birth, died at the age of 1 year and 10 months. Fasciculation of the tongue, neurogenic patterns on an electromyograph, and an empty posterior fossa on a cranial computerized tomogram suggested a motor neuron disorder resembling Werdnig-Hoffmann disease with cerebellar hypoplasia. Autopsy revealed a very small cerebellum and brain stem. The cerebellar cortex showed thin molecular and granular layers with total absence of Purkinje cells. Degeneration of the motor neurons with central chromatolysis, a change typical of Werdnig-Hoffmann disease, was noted throughout the anterior horn of the spinal cord as well as in the motor nuclei of the brain stem. The clinical features and pathological findings of this case were almost identical with those first detected and described by Norman in 1961. Six similar autopsy cases have been reported since the original description. In addition to pontocerebellar hypoplasia, the presence of severe mental retardation and a probable autosomal recessive inheritance make the disease a distinct entity, which we have called Norman's disease.
IntroductionStaphylococcus epidermidis is currently the most frequent pathogen of opportunistic and nosocomial infections worldwide. Most cases of Staphylococcus epidermidis infections are associated with indwelling medical devices and/or immunocompromised conditions. Community-acquired urinary tract infections are rare, particularly among pediatric populations, and clinicians often do not consider Staphylococcus epidermidis as a uropathogen.Case presentationA previously healthy Japanese boy developed pyelonephritis caused by Enterococcus faecalis at 10 months of age. Subsequently, he was diagnosed with severe bilateral vesicoureteral reflux (right side grade V, left side grade III), and was administered trimethoprim/sulfamethoxazole as the prophylaxis. At 18 months of age, he presented with fever. Gram staining of urine obtained through catheterization revealed gram-positive cocci. We suspected pyelonephritis caused by enterococci, and administered oral fluoroquinolone empirically. The fever promptly resolved, and eventually, methicillin-resistant Staphylococcus epidermidis was detected at significant levels in the urine. Thus, our final diagnosis was pyelonephritis caused by community-acquired methicillin-resistant Staphylococcus epidermidis.ConclusionsOur case indicated that even immunocompetent children without a urinary catheter can develop Staphylococcus epidermidis pyelonephritis. Staphylococcus epidermidis can be underdiagnosed or misdiagnosed as sample contamination in community-acquired urinary tract infections. Therefore, when Gram staining of appropriately obtained urine samples reveals gram-positive cocci, clinicians should take into consideration not only the possibility of enterococci but also staphylococci, including Staphylococcus epidermidis, particularly in children with urinary abnormalities and/or those receiving continuous antibiotic prophylaxis.
Autoimmune neutropenia of infancy is characterized by minor intercurrent infections despite severe neutropenia; severe bacterial infections are uncommon. An infant developed recurrent urinary tract infections at 9 and 11 months of age. The identified uropathogens were Escherichia coli and Enterococcus faecalis, respectively. Empirical treatment with carbapenems, as broad-spectrum antibiotics, promptly resolved the infection without sequelae. Febrile neutropenic children with cancer and autoimmune neutropenia can develop urinary tract infections; therefore, in such infants, urine culture should be obtained through catheterization. In febrile neutropenic infants with no apparent fever source, cephalosporin monotherapy should not be selected empirically because Enterococci can be the involved pathogens.
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