[Reticulocyte haemoglobin content in the diagnosis of iron deficiency]. / Contenido de hemoglobina reticulocitaria para el diagnóstico de la ferropenia.

INTRODUCTION: The detection of iron deficiency is essential in order to start early treatment to prevent long-term systemic complications of iron deficiency anaemia. Reticulocyte haemoglobin content (CHr) has been shown to be a helpful indicator for detecting iron deficiency before the development of anaemia. The objectives of this study were to evaluate the efficiency of CHr in the assessment of iron deficiency with or without anaemia and to determine the cut-off value with the best diagnostic yield. STUDY DESIGN: A descriptive cross-sectional study was carried out on an urban population of both sexes aged 6 months to 14 years. The study protocol included a questionnaire and taking a venous blood sample for a complete blood cell count with CHr and biochemical indicators of iron status. RESULTS: Samples were obtained for 237 children. A CHr cut-off value of 25 pg had an overall sensitivity of 90.7% and specificity of 80.1% for the diagnosis of iron deficiency with or without anaemia. The value of CHr was below 25 pg in the diagnostic groups with iron deficiency and iron deficiency anaemia, and above this value in the diagnostic groups with non-iron deficient anaemia or normal. CONCLUSIONS: CHr is a useful hematological marker to identify iron deficiency and iron deficiency anaemia in childhood. A CHr value of 25 pg showed the best performance to identify iron deficiency with or without anaemia.

[Review of haematology and biochemistry parameters to identify iron deficiency]. / Revisión de los parámetros hematológicos y bioquímicos para identificar la ferropenia.

INTRODUCTION: There has been a continuous improvement in the methods to detect iron deficiency, a common condition in children, in the last decades or so, but it is still difficult to establish which parameters should be included in a diagnostic panel for iron deficiency and iron deficiency anaemia. The objectives of this study were to evaluate the diagnostic efficiency of commonly used haematological and biochemical markers, as well as the reticulocyte haemoglobin content (CHr) in the diagnosis of iron deficiency with or without anaemia. STUDY DESIGN: A descriptive cross-sectional study was carried out on an urban population of both sexes aged 6 months to 14 years. A complete blood cell count with CHr was obtained. Biochemical markers of iron metabolism, transferrin saturation, serum iron, ferritin and total iron binding capacity were also measured. RESULTS: Samples were obtained for 237 children. A multiple stepwise logistic regression analysis identified CHr and iron serum as the only parameters independently associated to iron deficiency (P<0.05). CHr was the strongest predictor of iron deficiency and iron deficiency anaemia. CONCLUSIONS: Our study indicates that the measurement of CHr may be a reliable method to assess deficiencies in tissue iron supply. CHr together with a complete blood count may provide an alternative to the traditional biochemical panel for the diagnosis of iron deficiency in children.

[Infection-triggered familial or recurrent acute necrotizing encephalopathy]. / Encefalopatía aguda necrosante familiar o recurrente desencadenada por infecciones.

Acute necrotizing encephalopathy (ANE) presents in children after common viral infections. Most cases of ANE are non-familial and non-recurrent and have been mainly reported in Asian patients, although ANE affects children worldwide. Recently, missense mutations in the gene encoding the nuclear pore protein Ran Binding Protein 2 (RANBP2) have been found in several families with familial or recurrent cases of ANE. We describe a Spanish family with familial and recurrent ANE without mutations in RANBP2. Mutations in RANBP2 are not the sole susceptibility alleles for familial or recurrent ANE.

[Infant botulism]. / Botulismo del lactante.

We report a case of botulism in a 40 day old infant. The patient presented a descending flaccid paralysis requiring mechanical ventilation for 12 days. She is the first European patient treated with Human Botulism Immune Globulin. A few weeks later a second case of infant botulism was detected in our geographical region in Southern Spain. We emphasise the importance of an early diagnosis and treatment with Human Botulism Immune Globulin to decrease morbidity.

[Dermatomyositis in childhood]. / Dermatomiositis en la infancia.

AIM: The aim of this study is to review the presenting signs and symptoms, laboratory findings and therapeutic regimens of juvenile dermatomyositis in a tertiary hospital. METHODS: We reviewed retrospectively the available medical records of patients who met the clinicopathologic criteria of Bohan and Peter for definite juvenile dermatomyositis. They were followed between 1986 and july 1999 at the pediatric rheumatology section at our institution. RESULTS: The patient population included 3 male and 6 female patients. The mean age at diagnosis was 7 years. Clinical features demanding medical attention at the hospital were: muscle weakness and pain, with associated general symptoms in 4 cases; isolated muscle weakness in 2 cases; muscle weakness associated to general symptoms in 1 case; and monoarthritis in another case. One patient presented initially only with cutaneous rash. Three patients developed calcinosis. Serum CPK and LDH levels were elevated in 8 patients, aldolase in 7 and aminotransferases in 6. Autoantibodies were undetectable in all the patients. Electomyography demonstrated myopatic or mixed pattern in the 5 patients it was practiced. Muscle biopsy showed features of inflammatory myopathy in all the cases. Seven patients were treated exclusively with steroids and 2 patients with steroids, methotrexate and intravenous gammaglobuline. Actually, 6 patients are asymptomatic, 2 have mild muscle weakness, and 1 has died. CONCLUSIONS: The results of our review agree with other series reported. Juvenile dermatomyositis suspicious should be made upon muscle weakness and general symptoms. Treatment with steroids should be started promptly.

[Osteosarcoma and brain metastasis]. / Osteosarcoma y metástasis cerebral.

INTRODUCTION: Since the advent of multimodal therapy, survival among patients with osteosarcoma in general and among those with aggressive tumors has improved. Consequently, the pattern of relapse is also changing. Brain metastasis is considered to be a rare event in osteosarcoma, although recent reports suggest that the incidence of this complication may be increasing. CASE REPORT: We report two girls with osteoblastic osteosarcoma of the femur with poor response to preoperative chemotherapy. Both patients developed brain metastasis concurrent with or after the development of lung metastasis. Clinical manifestations of brain metastasis were symptoms of intracranial hypertension in one patient, and a complex partial seizure in the other. DISCUSSION: We advocate periodic neurologic examination and neuroradiologic screening for the early detection of brain involvement in patients whose disease recurs within 1 year of diagnosis, in those with metastasis at diagnosis and in those with a poor histologic response to preoperative chemotherapy.

[Neurocutaneous melanosis]. / Melanosis neurocutánea.

Neurocutaneous melanosis (NCM) is a rare congenital syndrome characterized by large or multiple congenital melanocytic nevi and excessive proliferation of melanotic cells in the leptomeninges. We report the case of a girl with a giant hairy nevus and numerous small nevi since birth. Within the first 2 years of life she developed clinical features of increased intracranial pressure and West s syndrome. At 2 years of age she presented a right facial palsy and myelopathy. Brain and spinal magnetic resonance imaging demonstrated meningeal infiltration. Diagnosis of NCM was established by a detailed cytologic analyses of the cerebrospinal fluid that revealed melanocytic cells. She received palliative treatment. The girl died 2 months after. Patients with large or multiple congenital melanocytic nevi should be carefully followed up with clinical examination and neuroimaging to detect NCM. At present there is no curative treatment. The association of NCM and West s syndrome has not been previously described.