[Sturge-Weber syndrome: experience with 14 cases]. / Síndrome de Sturge-Weber: Experiencia en 14 casos.

OBJECTIVE: The objective of this study was to review the cases of Sturge-Weber syndrome (SWS) diagnosed and followed-up in our center over the last 25 year period in order to evaluate their clinical characteristics, evolution and therapeutical response. PATIENTS AND METHODS: A retrospective review of the records of patients diagnosed of SSW (facial nevus flammeus at least over the first branch of the trigeminal nerve and ipsilateral leptomeningeal angioma) was performed. RESULTS: Fifteen patients were found in our records, with one of them being excluded from the study due to the lack of follow-up. From the remaining 14, 11 had been diagnosed before the age of 18 months. Nevus flammeus was located on the right side in 8 cases, bilaterally in 3 and on the left side in the other 3 patients. Four cases had glaucoma, 3 of which had good evolution after trabeculotomy. Thirteen of the 14 patients had seizures, usually contralateral to the nevus flammeus. The main drugs used were phenytoin, phenobarbital, valproic acid and carbamazepine. Ten of the 13 patients treated had a good therapeutical response. The EEG was abnormal in 12 patients, two of them occurring during the follow-up period. The main abnormality found was an interhemispherical asymmetry. Nine patients developed hemiparesis. In reference to the neuroimaging. MR was better than CT in evaluating parenchymatous atrophy, which was present in all patients, and the abnormalities of the white and grey matters (9 and 8 patients, respectively). CONCLUSIONS: Early evaluation of newborns with nevus flammeus affecting the first branch of the trigeminal nerve must be done, including an MR with contrast and an ophthalmological exam.

Intrathecal chemotherapy-related myeloencephalopathy in a young child with acute lymphoblastic leukemia.

Since the mid-1960s intrathecal chemotherapy (methotrexate [MTX], cytarabine [Ara-C], or both, plus hydrocortisone) has constituted the standard approach to prophylaxis and treatment of central nervous system (CNS) leukemia and lymphoma. Intrathecal chemotherapy-related neurotoxicity has been described in a variable proportion of patients. At least 35 cases of subacute myeloencephalopathy with transient or permanent paraplegia/quadriplegia after intrathecal chemotherapy have been reported. Different factors have been cited: high cumulative MTX dose, meningeal leukemia, cranial irradiation, and preservatives in MTX and Ara-C. A direct toxic effect of the intrathecal chemotherapy seems the most likely mechanism. Early imaging studies are usually normal. We describe a nonfatal case of permanent flaccid quadriplegia after the fourth triple intrathecal chemotherapy in a 6-year-old girl with acute lymphoblastic leukemia and no evidence of meningeal involvement. Six months after intrathecal chemotherapy, CNS magnetic resonance imaging showed severe atrophy of spine, cerebellum, and cerebral hemispheres. The outcome of reported cases is diverse. No treatment has been shown to reverse neurotoxicity. Among the cases reported in the literature, complete recovery of neurologic deficits was observed in 9 patients, partial recovery with variable sequelae in 6, no recovery in 8, and 13 patients died from the initial oncologic disease or neurotoxicity progression.

[Outcome of hypertrophic pyloric stenosis after pyloromyotomy]. / Evolución de la estenosis hipertrófica de píloro tras la piloromiotomía.

Twenty four patients diagnosed and operated of hypertrophic pyloric stenosis were examined by ultrasonography at diagnostic and sequential after pyloromyotomy. We measured pyloric diameter, thickness and length of the muscle and we calculated the pyloric volume. The overall configuration of the pylorus is more important than specific pyloric dimensions for diagnosis. The pyloric volume is the most discriminating criterion. Sequential sonograms at one and four months showed that all measurements fell to normal levels within four weeks, except pyloric volume.