ABSTRACT
INTRODUCTION: Nemalinic myopathy (NM) is a non progressive congenital disorder of skeletal muscle, characterized by rod like formations present in muscle fibres, whilst congenital multiple arthrogryposis (CMA) is a syndrome characterized by contractures and articular rigidity which may be due to many causes, including NM. CLINICAL CASE: A boy of 0 h of premature life, with CMA was assessed on the suspicion of neuromuscular disease with normal preliminary studies. Muscle biopsy eventually showed the typical rod like formations of NM. The clinical course was unsatisfactory and he died at the age of five months from respiratory problems. CONCLUSIONS: Diagnosis of NM requires a high index of suspicion and muscle biopsy. At the present time genetic counselling cannot be given after a sporadic case.
Subject(s)
Arthrogryposis/complications , Myopathies, Nemaline/complications , Biopsy , Humans , Infant, Newborn , Magnetic Resonance Imaging , Male , Muscle, Skeletal/pathology , Severity of Illness IndexABSTRACT
OBJECTIVE: The objective of this study was to evaluate the findings of 99mTc-DMSA renal scintigraphy in children with their first acute febrile urinary tract infection in relation with several clinical-biological parameters and other imaging studies and a long-term follow up. MATERIAL AND METHODS: 103 children between 1 month and 10 years old with their first acute febrile urinary tract infection were studied by means of clinical and laboratory assessment, renal ultrasonography and 99mTc DMSA renal scintigraphy in the acute illness period. Patients were divided into two groups, those under 2 years old (n = 63) and those over 2 years old (n = 40). RESULTS: Cortical scintigraphy showed renal changes in 56 patients (54,5%). Children over 2 years of age had a higher incidence of renal lesions than younger children (39,7% vs. 77,5%). Ultrasonography measuring renal volume showed a simple concordance with scintigraphy in 64% of the patients. Reflux was demonstrated in 23 patients (22,3%) without differences between patients with normal or abnormal cortical scintigraphy. After having studied the factors that were associated independently to the pathological results in the scintigraphy through a logistical multivariant regression, it was observed that the child's age, the elevation of the PCR and the alterations of the renal volume were significant according to statistics and also associated to a larger amount of pathological DMSA scintigraphy. CONCLUSIONS: DMSA scintigraphy associated with other diagnostic methods can improve the sensitivity and specificity to establish renal damage stage. During the follow-up the acute lesions disappeared or improved in all cases and the chronic lesions have not been modificated.
Subject(s)
Radiopharmaceuticals , Technetium Tc 99m Dimercaptosuccinic Acid , Urinary Tract Infections/diagnostic imaging , Child , Child, Preschool , Female , Fever/etiology , Humans , Infant , Male , Radionuclide ImagingABSTRACT
Objetivo: Evaluar los hallazgos de la gammagrafía renal (DMSA) en niños con una primera infección del tracto urinario (ITU) febril en relación con diversos parámetros clínico-biológicos y otros estudios de imagen y seguimiento a largo plazo. Material y métodos: En un grupo de 103 pacientes (con edades comprendidas entre un mes y 10 años) con una primera ITU febril, se han evaluado parámetros clínicos, analíticos y pruebas de imagen en la fase aguda de la enfermedad. Los pacientes se dividieron en dos grupos de edad, menores (n = 63) y mayores de 2 años (n = 40). Resultados: La gammagrafía fue patológica en el 54,5 por ciento del grupo total, en el 39,7 por ciento en menores de 2 años y en el 79,5 por ciento de los mayores de 2 años. En la ecografía con medición del volumen renal se detectó una concordancia simple con la gammagrafía en el 64 por ciento de los casos. La cistografía objetivó un reflujo en el 22,3 por ciento de los pacientes, sin encontrar diferencias estadísticamente significativas entre los que presentaron un DMSA normal o patológico. Al estudiar los factores que se asociaron de forma independiente a un resultado patológico en el DMSA mediante un análisis multivariante de regresión logística, se observó que la edad del niño, la elevación de la proteína C reactiva (PCR) y la alteración del volumen renal resultaron asociarse de forma estadísticamente significativa a una mayor presencia de DMSA patológico. Conclusiones: El DMSA combinado con otras pruebas diagnósticas puede mejorar la sensibilidad y especificidad para establecer el grado de afectación renal. Durante el seguimiento, las lesiones agudas desaparecen o mejoran en todos los casos y las crónicas no se modifican (AU)
