[Joubert syndrome and neurofibromatosis type 1]. / Síndrome de Joubert y neurofibromatosis de tipo 1.

TITLE: Síndrome de Joubert y neurofibromatosis de tipo 1.

Occurrence of Borrelia and Borreliella species in Ixodes ricinus collected from roe deer in northwestern Spain.

Ixodes ricinus, comprising the predominant tick species in Europe, can transmit important human pathogens, including Borreliella spp., the causal agent of Lyme borreliosis. One hundred and seventy five roe deer hunted in two areas (plateau and mountain) of Galicia (northwest Spain) were examined for the presence of ticks; all roe deer were infested by I. ricinus. Nymphs (n = 1000), males (n = 1449) and females (n = 1000) of I. ricinus were analysed in pools of up to 10 ticks to detect both Borreliella and Borrelia DNA. The average number of I. ricinus per roe deer was similar in both areas, regardless of the life stage; although the percentage of Borreliella and Borrelia positive pools was higher in ticks collected from roe deer hunted in the plateau area, no significant differences were detected. Sequence analysis at the flagellin gene allowed the identification of four Borreliella species (Borreliella afzelii, Borreliella garinii, Borreliella lusitaniae and Borreliella valaisiana) and Borrelia miyamotoi in adult males; only B. valaisiana and B. miyamotoi were detected in nymphs and all females were negative. All Borreliella and Borrelia species found in roe deer were previously identified in questing I. ricinus collected in the same study area, although the prevalence was lower in the present study. The analysis of male I. ricinus ticks collected from roe deer gives a good estimation of Borreliella diversity in questing ticks.

[Paravertebral pyomyositis in childhood following closed injury]. / Piomiositis paravertebral infantil en relación con traumatismo cerrado.

Pyomyositis is an acute bacterial infection that affects striated muscle and is generally accompanied by the formation of an abscess. In most cases, the microorganism involved is Staphylococcus aureus. Clinical findings are characterized by pain, swelling and muscular edema, together with variable general symptoms. Complications include arthritis, osteomyelitis and even septic shock with a mortality of 1.8%. We report the case of an 8-year-old boy who sustained a closed lumbar injury on banging his shoulder while he was playing on a trampoline and who developed paravertebral pyomyositis complicated by sepsis. S. aureus was isolated in the blood culture. The boy subsequently developed a perivertebral abscess and finally contiguous osteomyelitis in the L3 spinous process. The patient received treatment with vancomycin and metronidazole for 6 weeks followed by cloxacillin therapy for 2 weeks (a total of 8 weeks of intravenous antibiotic therapy). Physical examination 3 months after discharge revealed no abnormalities. The possibility of pyomyositis should be borne in mind, especially in children with fever, localized muscular pain and a history of accidental or sports injuries. Early diagnosis and treatment are important to reduce the risk of possibly fatal complications.

[Primary intraventricular hemorrhage as a result of a bleeding arteriovenous malformation]. / Hemorragia intraventricular primaria tras sangrado de malformación arteriovenosa.

Primary intraventricular hemorrhage is very rare in adults and is even more infrequent in children. We present a 15-year-old girl who presented to the hospital because of sudden severe headache, vomiting and fever. Neurological examination only showed neck stiffness. A brain computed tomography showed blood in the ventricular system. Conventional angiography revealed an arteriovenous malformation originating in the right pericallosal artery branches. Gamma-knife radiosurgery was performed without relevant complications. A follow-up cerebral angiography showed disappearance of the arteriovenous malformation. When a primary intraventricular hemorrhage is detected in a young patient it is mandatory to rule out an underlying lesion such an arteriovenous malformation. Treatment options include surgery, interventional radiology and radiosurgery, alone or in combination.

[Hypotonia and lethargy: initial manifestations of a new case of galactosemia]. / Hipotonía y letargia: manifestaciones iniciales de un nuevo caso de galactosemia.

INTRODUCTION: Galactosemia is a metabolic disease that is transmitted by autosomal recessive inheritance in which there is an enzymatic deficit that prevents the metabolism of galactose. Three enzymes could be involved, but the lack of galactose-1-phosphate uridyltransferase (GALT) is the most frequent. Incidence is two cases per 100,000 newborn infants. As a consequence of this enzymatic deficit, on ingesting milk the newborn infant will present a progressive neurological deterioration, cataracts and digestive tract and kidney disorders. An early diagnosis is essential so that galactose can be withdrawn from the diet as soon as possible, which in the newborn infant means discontinuing mother's milk and feeding with galactose-free milk. CASE REPORT: We report the case of a newborn female, the daughter of consanguineous parents (second cousins) from the gypsy ethnic group, who was diagnosed as suffering from galactosemia with a total GALT deficit. The patient was given normal milk for the first 10 days of her life and presented hypotonia, lethargy, jaundice, hepatomegaly, refusal to eat, low weight gain and a urinary infection caused by gram negative bacteria. Following diagnosis, galactose was withdrawn from the diet (she was given soy milk) and the physical exploration became progressively more normal. CONCLUSIONS: This is an extremely unusual pathology, but the patient's outcome is largely dependent on an early diagnosis and treatment.

Implications of upper respiratory tract infections and drugs in the clinical spectrum of Henoch-Schönlein purpura in children.

OBJECTIVE: To assess whether children with Henoch-Schonlein purpura (HSP) who had an upper respiratory tract infection (URTI) or received medication prior to the onset of the disease exhibited a different clinical spectrum of features and outcome from children without such a history. METHODS: Retrospective study of children (< or = 14 years old) with HSP diagnosed from 1980 through December 2001 at the single hospital for the Lugo region (Northwest Spain). Children with primary cutaneous vasculitis were classified as having HSP according to currently used criteria. Drugs or URTI were considered precipitating events if any new medication was taken or an URTI had occurred within a week prior to the onset of the vasculitis. A comparative analysis of clinical and laboratory features according to the presence or absence of URTI and drugs was conducted. RESULTS: Eighty-six children fulfilled the classification criteria for HSP. Eight of them were excluded from this analysis due to insufficient follow-up (less than 1 year post-diagnosis). An URTI and a history of drugs were reported to occur in 32/78 (41%) and 23/78 (30%) children respectively. No differences in the age at the onset of the disease, gender and seasonal incidence between children with or without URTI were observed. However, 23/32 (72%) children with URTI had hematuria with or without proteinuria, compared with only 18/46 (39%) children without history of URTI (p = 0.004). This higher incidence of renal manifestations in HSP with URTI was not associated with more severe nephritis or with a significantly higher frequency of renal sequelae or relapses of the disease. No statistically significant differences between children with or without a history of drugs were observed. CONCLUSION: Although in unselected children with HSP a history of URTI seems to be associated with a higher incidence of nephritis, it does not influence the outcome of the disease.