Biomedical subjects

E López-Laso

Publications and source records attributed to E López-Laso.

8 recordsLinked to original sources

PubMed2005

[Möbius syndrome and an apparently life-threatening event].

Möbius syndrome is characterized by congenital facial weakness with impairment of ocular abduction. A subgroup of these patients have associated apneas because of involvement of brainstem respiratory centers located slightly lateral to the abducens nuclei. We report a 7-month old infant admitted to the pediatric intensive care unit because of an episode of cyanosis, hypotonia and unresponsiveness. The patient then became respirator dependent afterwards. On examination, facial diplegia, impairment of ocular abduction and hypotonia were evident. Magnetic resonance imaging (MRI) revealed abnormal signal intensity in brainstem tegmentum. At the age of 11 months he was discharged but required a home ventilator. He died 5 months later due to an infection. Möbius syndrome is associated with central respiratory dysfunction. The finding of abnormal signal intensity in brainstem tegmentum on MRI is a possible predictor of apnea in these patients.

Apnea↗

PubMed2002

[Osteosarcoma and brain metastasis].

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.

Brain Neoplasms↗

PubMed2000

[Dermatomyositis in childhood].

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.

Adolescent↗

PubMed2000

[Neurocutaneous melanosis].

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.

Fatal Outcome↗

PubMed1999

B cell non-Hodgkin's lymphoma in a girl with the DiGeorge anomaly.

The DiGeorge anomaly (DGA) is occasionally associated with cellular immunodeficiency. We report a female infant diagnosed with complete DGA, who developed fatal, high grade, non-Hodgkin's lymphoma that expressed Epstein-Barr virus (EBV). Non-Hodgkin's lymphoma should be considered in children with DGA.

DiGeorge Syndrome↗

PubMedDate not supplied

[Vascular malformations of the central nervous system in children].

OBJECTIVE: To present the experience of vascular malformations (VM) of the central nervous system (CNS) in children obtained in our centre. Since these lesions do not often present clinically in childhood, there are few series described in the literature. PATIENTS AND METHODS: We made a retrospective review of the clinical histories of patients with VM of the CNS shown on MR, angiography and/or morbid anatomy, who were aged 15 years or under. Patients with Sturge-Weber or Von Hippel-Lindau syndromes were excluded. RESULTS: We describe 32 patients with VM of the CNS. Twenty four had arteriovenous malformations (AVM), 5 had cavernous malformations (CM), 2 had malformations of Galeno's vein (MGV) and one patient had a congenital fusiform arterial aneurysm. Twenty two children (68%) presented clinically with hemorrhages. This was the form of presentation in 20 patients with AVM. In 4 of the 5 patients with CM the first sign was epileptic crisis. The two patients with MGV presented with macrocephaly, in one neonate it was associated with heart failure and in on older baby with hydrocephaly. The patient with a congenital arterial aneurysm presented with paroxystic episodes of facial pain. CONCLUSIONS: The AVM are the VM which most frequently cause symptoms in childhood.

Adolescent↗

PubMedDate not supplied

[Spinal tumors in infancy. A report of 48 cases].

INTRODUCTION: Spinal tumours in infancy are an infrequent oncological disorder. The clinical features, usually of insidious onset, are alterations in gait and a painful spine. OBJECTIVE: To analyze the different histological types of spinal tumours seen in infancy and their form of presentation in our series. PATIENTS AND METHODS: We reviewed the clinical histories of 48 patients with intraspinal tumours, aged under 15 years, whose reports of histological diagnosis had been sent to our centre. RESULTS: Of the patients studied, 17 were girls (35.4%) and 31 boys (64.6%) with an average age of 7.7 years. The histological diagnoses made most frequently were astrocytomas (22.9%) and lipomas (18.8%) followed by metastases (12.5%), ependymomas (8.3%) and Edwing's sarcoma (8.3%). The clinical features were present prior to diagnosis for between 1 and 6 months in 13 patients, and for less than one month in 9 patients. The presenting symptoms were alterations in gait and back pain in most patients. Exploratory tests were related to the involvement of long vias and second motor-neurone lesions. The main topographical findings were: in the axial plane the lesions were extradural (23 patients) and in the sagittal plane there was dorsal involvement (34 patients). CONCLUSIONS: Insidious, progressive alterations in gait together with continuous, nocturnal back pain are valuable data when a serious spinal disorder is to be suspected. Early diagnosis should be based on neuroimaging tests, essentially MR, in the patients in whom spinal cord involvement is considered.

Adolescent↗

PubMedDate not supplied

[Acute cerebrovascular accident associated with drepanocytosis complicated by pneumococcal meningitis in two children].

INTRODUCTION: Between 6% and 17% of the patients with drepanocytosis will have an acute cerebrovascular accident (ACVA). Precipitating factors have been described including bacterial meningitis, upper respiratory tract obstruction, dehydration, intense exercise, postoperatively, and hypoxia due to altitude. CLINICAL CASES: We report two Negro children with drepanocytosis who, at the ages of 8 and 20 months, had pneumococcal meningitis complicated by an ACVA. The 20 month old boy had been previously diagnosed as having drepanocytosis; the 8 month old girl was diagnosed when she was admitted to hospital with meningitis. In both cases the clinical features of the ACVA were focal epileptic seizures followed by hemiplegia. On cranial CT and MR regions of focal ischaemia of the hemisphere were observed. The boy of 20 months made an excellent recovery with no long term sequelae. The 8 month old girl had severe permanent sequelae: hemiparesia, blindness, mental deficiency and epileptic encephalopathy. CONCLUSIONS: We present two Negro children with drepanocytosis who had ischemic ACVAs, a common complication of the disease, during the course of pneumococcal meningitis but with very different clinical courses. Recent increases in immigration will mean that previously rare illnesses will be more commonly seen in our environment, and should be considered in the differential diagnosis.

Anemia, Hemolytic↗