Manifestaciones osteoarticulares en tres hermanos con enfermedad de Wilson / Osteoarthropathy in three siblings with Wilson's disease

Las alteraciones osteoarticulares son una de las manifestaciones menos frecuentes en la enfermedad de Wilson. Su presentación es muy variable en forma de osteoporosis, osteomalacia, cambios inflamatorios de pequeñas articulaciones, artrosis en edades tempranas, osteocondrosis espinal, fracturas y calcificaciones heterotópicas. El objetivo de este trabajo es presentar las diferentes manifestaciones osteoarticulares observadas en 3 hermanos con enfermedad de Wilson que se manifestó en edades muy tempranas con una gravísima afección neurológica. Con el tratamiento farmacológico y un intenso programa de rehabilitación integral se estabilizaron. Durante la evolución, los 3 pacientes presentaron fracturas de cúbito y radio, tras traumatismo de baja energía; múltiples calcificaciones heterotópicas, algunas de ellas asintomáticas; procesos inflamatorios en forma de sinovitis de cadera y disminución de la densidad mineral ósea (DMO). La etiología de estas manifestaciones todavía está poco esclarecida, aunque lo más aceptado es la alteración del metabolismo fosfocálcico (AU)

[Osteoarthropathy in three siblings with Wilson's disease]. / Manifestaciones osteoarticulares en tres hermanos con enfermedad de Wilson.

Osteoarthropathies are one of the less usual manifestations of Wilson's disease. They appear in different forms such as osteoporosis (the most frequent), inflammatory changes in small joints, osteomalacia, osteoarthritis in younger ages, spine osteochondritis, fractures and heterotopic ossification. This article describes the different osteoarthropathies in three children: two brothers and one sister with Wilson's disease that first manifested in early childhood with severe neurological signs. After drug treatment and an intense rehabilitation program, the clinical signs stabilized. During the course of the disease, all three children presented fractures of the ulna and radius after low energy trauma, several heterotopic ossifications, some of which were asymptomatic, and inflammatory processes such as hip synovitis and reduction in mineral bone density. The etiology of this kind of manifestation is not yet clear, although the most widely accepted explanation is alteration in calcium and phosphate metabolism.

Rapid detection of multidrug-resistant Mycobacterium tuberculosis using the mycobacteria growth indicator tube (MGIT) system.

The emergence of multidrug-resistant strains of Mycobacterium tuberculosis has increased the need for rapid drug susceptibility tests, which are needed for adequate patient treatment. The objective of the present study was to evaluate the mycobacteria growth indicator tube (MGIT) system to detect multidrug-resistant M. tuberculosis strains. The MGIT system was compared with two standard methods (proportion and resistance ratio methods). One hundred clinical M. tuberculosis isolates [25 susceptible to isoniazid (INH) and rifampicin (RIF), 20 resistant to INH, 30 resistant to INH-RIF, and 25 resistant to INH-RIF and other drugs] obtained in the State of S o Paulo were tested for INH and RIF susceptibility. Full agreement among the tests was found for all sensitive and all INH-resistant strains. For RIF-resistant strains results among the tests agreed for 53 (96.4%) of 55 isolates. Results were obtained within 6 days (range, 5 to 8 days), 28 days and 12 days when using MGIT, the proportion method and the resistance ratio methods, respectively. The MGIT system presented an overall agreement of 96% when compared with two standard methods. These data show that the MGIT system is rapid, sensitive and efficient for the early detection of multidrug-resistant M. tuberculosis.

Rapid detection of multidrug-resistant Mycobacterium tuberculosis using the mycobacteria growth indicator tube (MGIT) system

The emergence of multidrug-resistant strains of Mycobacterium tuberculosis has increased the need for rapid drug susceptibility tests, which are needed for adequate patient treatment. The objective of the present study was to evaluate the mycobacteria growth indicator tube (MGIT) system to detect multidrug-resistant M. tuberculosis strains. The MGIT system was compared with two standard methods (proportion and resistance ratio methods). One hundred clinical M. tuberculosis isolates [25 susceptible to isoniazid (INH) and rifampicin (RIF), 20 resistant to INH, 30 resistant to INH-RIF, and 25 resistant to INH-RIF and other drugs] obtained in the State of Säo Paulo were tested for INH and RIF susceptibility. Full agreement among the tests was found for all sensitive and all INH-resistant strains. For RIF-resistant strains results among the tests agreed for 53 (96.4 percent) of 55 isolates. Results were obtained within 6 days (range, 5 to 8 days), 28 days and 12 days when using MGIT, the proportion method and the resistance ratio methods, respectively. The MGIT system presented an overall agreement of 96 percent when compared with two standard methods. These data show that the MGIT system is rapid, sensitive and efficient for the early detection of multidrug-resistant M. tuberculosis

[Varicella induced rhabdomyolysis]. / Rabdomiólisis por varicela.

Primary varicella-zoster infection is very common during childhood and few patients develop complications. The most frequent complications are bacterial infection of the lesions, laryngitis and varicella pneumonia. In the nervous system it can produce encephalitis and especially cerebellitis. We describe a case of primary varicella-zoster induced rhabdomyolysis in a 5-year-old girl with mental retardation, microcephalia and mild diplegia who, in the context of varicella infection, presented extreme muscular weakness and prostration. Blood and urine tests showed high creatine phosphokinase concentrations and myoglobinuria. The patient received aggressive intravenous hydration. Evolution was favorable with no renal failure. Rhabdomyolysis can produce life-threatening complications such as renal failure, intravascular disseminated coagulation and hyperkaliemia. The disease can be precipitated by alcohol ingestion, compression injury and generalized seizures. Infectious etiology is less common. Few reports have been published on primary varicella-zoster induced rhabdomyolysis but, because creatine phosphokinase concentrations are not routinely performed in varicella infection, very mild cases might have been under-diagnosed. Despite its rarity, this disease should be considered in cases of infection, since early treatment with hyperhydration can prevent complications.

Rabdomiólisis por varicela / Primary varicella-zoster induced rhabdomyolysis

La primoinfección por virus de la varicela-zoster (VVZ) es muy frecuente durante la infancia y en pocos casos cursa con complicaciones. Las más frecuentes son la sobreinfección de las lesiones, la laringitis y la neumonía varicelosas y como complicaciones neurológicas la encefalitis con especial predominio de cerebelitis. Se describe un caso de rabdomiólisis como complicación de la varicela. Se trataba de una niña de 5 años de edad con retraso mental, microcefalia y diplejía leve que, en el contexto de una primoinfección con varicela, presentó debilidad muscular extrema y postración. Se practicaron determinaciones analíticas sanguíneas y de orina que mostraron hipercreatinfosfatemia y mioglobinuria. Se realizó sueroterapia inmediata y el cuadro mejoró progresivamente, sin signos de insuficiencia renal aguda. La rabdomiólisis puede presentar complicaciones importantes, que no se dieron en nuestra paciente, como insuficiencia renal aguda, coagulación intravascular diseminada (CID) e hiperpotasemia. Suele deberse a intoxicación etílica, traumatismo o crisis generalizadas, siendo otra causa menos frecuente las infecciones. La rabdomiólisis por virus de la varicela-zoster es rara, poco descrita en la bibliografía, aunque en grado leve puede pasar desapercibida ya que no se determinan las concentraciones de creatinfosfocinasa de manera sistemática. A pesar de su rareza, es importante tenerla en cuenta en el contexto de una infección ya que el abordaje terapéutico precoz con sueroterapia abundante evita complicaciones (AU)

[Headache in a short-stay unit. A retrospective study of 140 cases]. / Cefalea en una unidad de estancia corta. Estudio retrospectivo de 140 casos.

OBJECTIVE: Our objective was to study those patients that warranted admission to our Short-Stay Unit (Observation Unit) with an incoming diagnosis of headache so as to determine the characteristics of the headache, analyze complementary explorations and their use and to establish the causes of the problem. PATIENTS AND METHODS: A retrospective review of the clinical history of patients admitted for headache between 1992 and 1997 was done, recording specific data according to pre-set objectives. RESULTS: One hundred forty patients were admitted with headache (2% of total admittance to the Unit. Sixty-one percent were males. Seventy cases were between 11 and 15 years old. The most frequent accompanying symptoms were vomiting (61%), fever (31%) and various concurrent infections (21%). Seventy-two cases (51%) presented an evolution of less than 24 hours before admittance. Frontal headache was the most common localization, 30.6% of the patients were awaken by the pain and 32% calmed with analgesics. CAT scan/70%) and skull X-ray (59%) were the most used complementary explorations. Ten CAT scans and 3 X-rays showed anomalies. Evolution was favorable in most cases. The most frequent diagnoses were headache associated with infections (31%), tension headaches (29%) and migraine (21%). Fourteen percent were non-specific headaches. A central nervous system tumor was diagnosed in 6 patients, where 5 showed papilledema on initial exploration. CONCLUSIONS: Headache, especially in adolescents, is a common cause of consultations to the emergency room. When not accompanied by other symptoms it is not usually precluding a severe disease. In an emergency room exploration, a complete neurological exam must be undergone, including retinal exam, leaving further complementary exams for those cases where the patient history suggests an organic alteration.

[Metachromatic leukodystrophy. Late juvenile form. Review of 6 cases]. / Leucodistrofia metacromática. Forma infantil tardía. Revisíon de seis observaciones.

Six cases of late infantile metachromatic leucodystrophy are presented. Behavioral changes and walking disturbances are the initial symptoms which tend to occur around 18 months of age. Slowing of nerve velocity conductions is a constant finding. Two out of six observations had normal CSF protein levels throughout their disease. Diagnosis was confirmed by sural nerve biopsy in two cases and by leucocyte arylsulfatase A measurement in the four remaining patients. Studies for carrier detection were performed in 4 of the 5 affected families.